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# IntraBio

IntraBio is a leader in discovering, developing, and commercializing novel therapies and treatments for rare and neurodegenerative diseases with high unmet medical needs

## Sitemaps

- [XML Sitemap](https://intrabio.com/sitemap.xml): Contains all public & indexable URLs for this website.

## Posts

- [IntraBio Announces Positive Pivotal Trial Results of Levacetylleucine for the Treatment of Ataxia-Telangiectasia](https://intrabio.com/news/intrabio-announces-positive-pivotal-trial-results-of-levacetylleucine-for-the-treatment-of-ataxia-telangiectasia/) - Phase III trial successfully achieved its primary endpoint and key secondary endpoints with high statistical significance Levacetylleucine demonstrated clinically meaningful improvements in neurological signs, symptoms, and functioning in pediatric and adult patients with Ataxia-Telangiectasia Favorable safety and tolerability, consistent with the established safety profile of levacetylleucine Regulatory submissions planned in the US, Europe, and other
- [IntraBio Receives European Commission Approval of AQNEURSA® for the Treatment of Niemann-Pick Type C Disease](https://intrabio.com/news/intrabio-receives-european-commission-approval-of-aqneursa-for-the-treatment-of-niemann-pick-type-c-disease/) - AUSTIN, Texas--(BUSINESS WIRE)--IntraBio Inc. today announced that the European Commission granted marketing authorization to AQNEURSA® (levacetylleucine) for the treatment of neurological manifestations of Niemann-Pick Type C (NPC) disease, following a positive opinion from the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA). AQNEURSA® is approved in the European Union for use
- [IntraBio Announces U.S. FDA Approval of AQNEURSA for the Treatment of Niemann-Pick Disease Type C](https://intrabio.com/news/intrabio-announces-u-s-fda-approval-of-aqneursa-for-the-treatment-of-niemann-pick-disease-type-c/) - AQNEURSA™ (ak-nur-sah) is the only FDA-approved stand-alone therapy for the treatment of Niemann-Pick disease type C (NPC) Approval follows positive Phase III data demonstrating significant improvements in neurological symptoms and functional benefits that could be seen within 12 weeks in adult and pediatric NPC patients AQNEURSA provides a long-awaited approved treatment option for patients and
- [Positive Pivotal Trial Results of IB1001 for the Treatment of Niemann-Pick Disease Type C](https://intrabio.com/news/intrabio-announces-positive-pivotal-trial-results-of-ib1001-for-the-treatment-of-niemann-pick-disease-type-c/) - IntraBio Announces Positive Pivotal Trial Results of IB1001 for the Treatment of Niemann-Pick Disease Type C Phase 3 trial met the primary endpoint and key secondary endpoints showing high statistical significance IB1001 showed a clinically meaningful improvement in symptoms, functioning, quality of life, and cognition in both pediatric and adult patients with NPC IB1001 was
- [US FDA Acceptance of NDA for IB1001 for NPC](https://intrabio.com/news/intrabio-announces-u-s-fda-accepts-new-drug-application-for-ib1001-for-the-treatment-of-niemann-pick-disease-type-c/) - IntraBio Announces U.S. FDA Accepts New Drug Application for IB1001 for the Treatment of Niemann-Pick disease Type C IntraBio’s IB1001 New Drug Application was accepted and granted priority review PDUFA date set for September 24th, 2024 Application based on positive results of the IB1001-301 Phase 3 Pivotal Trial which was recently published in the New
- [IntraBio Reaches Target Enrollment for IB1001 NPC Pivotal Clinical Trial](https://intrabio.com/news/intrabio-reaches-target-enrollment-for-ib1001-npc-pivotal-clinical-trial/) - IntraBio’s pivotal trial for Niemann-Pick disease type C enrolls 100% of target patients IntraBio plans to “over enroll” trial by over 125% and complete recruitment December 2022 IntraBio’s pivotal trial data readout expected Q2 2023 IntraBio Reaches Target Enrollment for IB1001 NPC Pivotal Clinical Trial OXFORD, UK / November 22, 2022 / IntraBio Inc announced
- [IntraBio Completes Recruitment for IB1001 NPC Pivotal Clinical Trial](https://intrabio.com/news/intrabio-completes-recruitment-for-ib1001-npc-pivotal-clinical-trial/) - IntraBio’s pivotal trial for Niemann-Pick disease type C has completed recruitment IntraBio’s pivotal trial data readout expected Q2 2023 IntraBio Completes Recruitment for IB1001 NPC Pivotal Clinical Trial OXFORD, UK / December 08, 2022 / IntraBio Inc announced today that it has completed recruitment for its Pivotal Trial, Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type
- [INTRABIO REPORTS FURTHER DETAIL ON POSITIVE DATA FROM IB1001 MULTINATIONAL CLINICAL TRIAL FOR THE TREATMENT OF GM2 GANGLIOSIDOSIS (TAY-SACHS AND SANDHOFF DISEASE)](https://intrabio.com/news/650/) - First positive clinical trial for GM2 Gangliosidosis – IB1001 demonstrated a statistically significant and clinically meaningful change in both the primary and secondary endpoints Significant improvement in gait, fine motor skills, speech, cognition, overall functioning, and quality of life reported IB1001 rapidly improved both motor and cognitive symptoms in 6-weeks, consistent with its pharmacological action
- [IntraBio Reports Statistically Significant and Clinically Meaningful Improvements in the Use of IB1001 For Treatment of GM2 Gangliosidosis](https://intrabio.com/news/intrabio-reports-statistically-significant-and-clinically-meaningful-improvements-in-the-use-of-ib1001-for-treatment-of-gm2-gangliosidosis/) - IntraBio Inc announced positive data from its multinational clinical trial of IB1001 for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease). IB1001 demonstrated a statistically significant and clinically meaningful improvement in symptoms, functioning, and quality of life in both the primary and secondary endpoints for pediatric and adult patients with GM2 Gangliosidosis. The trial
- [IntraBio Scientific Founder Fran Platt elected to The Royal Society](https://intrabio.com/news/intrabio-scientific-founder-fran-platt-elected-to-the-royal-society/) - We are delighted to announce today that IntraBio’s Co-Founding Scientist Professor Frances Platt has been elected a Fellow of The Royal Society. Professor Platt joins 52 distinguished scientists who were honoured today with their election for their exceptional contributions to science. Professor Platt is a Professor of Biochemistry and Pharmacology and the Head of the
- [IntraBio Reports Further Detail on Positive Data from IB1001 Multinational Clinical Trial for the Treatment of Niemann-Pick disease Type C](https://intrabio.com/news/intrabio-reports-further-detail-on-positive-data-from-ib1001-multinational-clinical-trial-for-the-treatment-of-niemann-pick-disease-type-c/) - IntraBio Reports Further Detail on Positive Data from IB1001 Multinational Clinical Trial for the Treatment of Niemann-Pick disease Type C IB1001 demonstrated a statistically significant and clinically meaningful change in both the primary and secondary endpoints Significant improvement in gait, fine motor skills, speech, cognition, overall functioning, and quality of life reported IB1001 rapidly improved
- [IntraBio Reports Positive Data from IB1001 Multinational Clinical Trial for the Treatment of Niemann-Pick disease Type C](https://intrabio.com/news/intrabio-reports-positive-data-from-ib1001-multinational-clinical-trial-for-the-treatment-of-niemann-pick-disease-type-c/) - IntraBio Reports Positive Data from IB1001 Multinational Clinical Trial for the Treatment of Niemann-Pick disease Type C Positive results reported from IntraBio’s multinational clinical trial with IB1001 for treatment of Niemann-Pick disease Type C (NPC) Statistically significant and clinically meaningful improvement demonstrated in both the primary and topline secondary endpoints IntraBio is developing IB1001 for
- [Professor Michael Strupp Receives The 2020 Galenus-von-pergamon Award](https://intrabio.com/news/professor-michael-strupp-receives-the-2020-galenus-von-pergamon-award/) - OXFORD, UK -- IntraBio Inc announced today that their Chief Clinician and Co-Founding Scientist Professor Michael Strupp MD, FRCP, FAAN, FANA, FEAN received the 2020 “Galenus-von-Pergamon” Basic Research Award for his groundbreaking work on a new therapeutic principle for lysosomal storage disorders (LSDs). The Basic Research Galenus-von-Pergamon Award is granted to an individual or team
- [IntraBio Fast Track Designation for GM2 Gangliosidosis](https://intrabio.com/news/intrabio-fast-track-designation-for-gm2-gangliosidosis/) - IntraBio Inc. is pleased to share that the US Food and Drug Administration (FDA) has granted Fast Track designation to its lead compound (IB1001) for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease). IB1001 (N-acetyl-L-leucine) is currently being investigated for the symptomatic, and disease-modifying, neuroprotective treatment of GM2 in a multinational clinical trial (IB1001-202).
- [IntraBio Fast Track Designation for Niemman-Pick Disease type C](https://intrabio.com/news/intrabio-fast-track-designation-for-niemman-pick-disease-type-c/) - IntraBio Inc. is pleased to share that the US Food and Drug Administration (FDA) has granted Fast Track designation to its lead compound (IB1001) for the treatment of Niemann-Pick disease Type C (NPC). IB1001 (N-acetyl-L-leucine) is currently being investigated for the symptomatic, and disease-modifying, neuroprotective treatment of NPC in a multinational clinical trial (IB1001-201). In
- [INTRABIO NEUROPROTECTION AND DISEASE MODIFICATION FOR GM2 GANGLIOSIDOSIS](https://intrabio.com/news/intrabio-neuroprotection-and-disease-modification-for-gm2-gangliosidosis/) - IntraBio Inc. is pleased to announce that the Extension Phase for the IB1001-202 Clinical Trial has been accepted in the United States, as well as in European countries in which the trial is being conducted, including Germany, Spain, and the UK. IB1001-202 is a multinational, clinical trial that investigates IB1001 (N-acetyl-L-leucine) for the treatment of
- [IB1001-202 (GM2): FEB. 2020 RECRUITMENT UPDATE](https://intrabio.com/news/ib1001-202-gm2-feb-2020-recruitment-update/) - IntraBio Ltd. is pleased to share that the IB1001-202 clinical trial has screened over two-thirds (2/3) the target number of patients. The study, which investigates N-acetyl-L-leucine (IB1001) for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease), will enroll a total of approximately 30 patients across all international sites. Since recruitment commenced, twenty-three (23) patients
- [IntraBio Announces Clinical Results for Treatment of Dementia](https://intrabio.com/news/intrabio-announces-clinical-results-for-treatment-of-dementia/) - IntraBio Inc. is pleased to share results for its lead compound series (IB1000s) for the treatment of dementia, including positive clinical results from compassionate-use studies in patients with Lewy Body Dementia and Fronto-Temporal Dementia, and from pre-clinical studies in Alzheimer's Disease. Recent compassionate-use studies with IB1000s in patients with Lewy Body Dementia and Fronto-Temporal Dementia
- [IntraBio Completes NPC Clinical Trial Enrollment](https://intrabio.com/news/intrabio-completes-npc-clinical-trial-enrollment/) - IntraBio Inc is pleased to share that it has completed enrollment for its IB1001-201 Clinical Trial. IB1001-201 investigates N-Acetyl-L-Leucine (IB1001) for both the symptomatic, and long-term, neuroprotective effect of treatment of Niemann-Pick disease Type C (NPC). Recruitment for IB1001-201 commenced in September 2019 and has since enrolled patients across multinational trial sites in the
- [IntraBio Neuroprotection and Disease Modification for Niemann-Pick C Extension Phase Approved in Europe](https://intrabio.com/news/intrabio-neuroprotection-and-disease-modification-for-niemann-pick-c-extension-phase-approved-in-europe/) - IntraBio Inc is pleased to share that the Extension Phase for the IB1001-201 Clinical Trial has been approved in all European countries where the trial is being conducted. IB1001-201 is a multinational, clinical trial that investigates N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease Type C (NPC). In Europe, IB1001-201 is being conducted in centers
- [Clinical Trial IB1001-203: US Recruitment](https://intrabio.com/news/clinical-trial-ib1001-203-us-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-203, “Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in the United States. IB1001-203 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for the treatment of Ataxia-Telangiectasia (A-T). The trial
- [Clinical Trial IB1001-203: UK Recruitment](https://intrabio.com/news/clinical-trial-ib1001-203-uk-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-203, “Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in the United Kingdom. IB1001-203 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for the treatment of Ataxia-Telangiectasia (A-T). The
- [IB1001-201 (NPC): NOV. 2019 RECRUITMENT UPDATE](https://intrabio.com/news/ib1001-201-npc-nov-2019-recruitment-update/) - IntraBio Ltd. is pleased to share that the IB1001-201 clinical trial has screened two-thirds (2/3) the target number of patients. The study, which investigates N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease Type C (NPC), will enroll a total of approximately 30 patients across all international sites. Since recruitment commenced in September 2019, twenty (20)
- [Clinical Trial IB1001-202: Spain Recruitment](https://intrabio.com/news/clinical-trial-ib1001-202-spain-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-202, “Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in Spain. IB1001-202 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for treatment of GM2 Gangliosidosis (Tay-Sachs
- [Clinical Trial IB1001-201: Spain Recruitment](https://intrabio.com/news/clinical-trial-ib1001-201-spain-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-201, “Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in Spain. IB1001-201 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for treatment of Niemann-Pick Disease type
- [Clinical Trial IB1001-201: Slovakia Recruitment](https://intrabio.com/news/clinical-trial-ib1001-201-slovakia-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-201, “Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in Slovakia at Comenius University in Bratislava. IB1001-201 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for
- [Clinical Trial IB1001-202: German Recruitment](https://intrabio.com/news/clinical-trial-ib1001-202-german-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-202, “Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in Germany. IB1001-202 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for treatment of GM2 Gangliosidosis
- [Clinical Trial IB1001-201: German Recruitment](https://intrabio.com/news/clinical-trial-ib1001-201-german-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-201, “Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in Germany. IB1001-201 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for treatment of Niemann-Pick Disease type
- [Clinical Trial IB1001-202: UK Recruitment](https://intrabio.com/news/clinical-trial-ib1001-202-uk-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-202, “Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in the United Kingdom. IB1001-202 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for treatment of
- [Clinical Trial IB1001-201: US Recruitment](https://intrabio.com/news/clinical-trial-ib1001-201-us-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-201, “Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for US recruitment at the Mayo Clinic. “IntraBio’s IB1001-201 trial is open for recruitment in the United States,” said Mallory Factor, Chairman, IntraBio, “US patients
- [Clinical Trial IB1001-201: UK Recruitment](https://intrabio.com/news/clinical-trial-ib1001-201-uk-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-201, “Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease (NPC): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment in the United Kingdom. IB1001-201 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for treatment of Niemann-Pick
- [Clinical Trial IB1001-202: US Recruitment](https://intrabio.com/news/clinical-trial-ib1001-202-us-recruitment/) - IntraBio Inc. is pleased to confirm that the Clinical Trial IB1001-202, “Effects of N-Acetyl-L-Leucine on GM2 Gangliosidosis (Tay-Sachs and Sandhoff): A multinational, multi-center, open-label, rater-blinded Phase II study” is open for recruitment at all planned United States trial centers. IB1001-202 is a multinational study that investigates the effects of the novel drug IB1001 (N-Acetyl-L-Leucine) for
- [IntraBio Investigational New Drug Application Approved by the FDA for the Treatment of Niemann-Pick Disease Type C](https://intrabio.com/news/intrabio-investigational-new-drug-application-approved-by-the-fda-for-the-treatment-of-niemann-pick-disease-type-c/) - IntraBio Inc. today announced that the US Food and Drug Administration (FDA) has approved its Investigational New Drug (IND) Application for Clinical Trial IB1001-201 with its lead compound (IB1001) for the treatment of Niemann-Pick disease Type C (NPC). The IND approval of IB1001-201 allows IntraBio to move forward with the trial at U.S. clinical sites. In addition
- [IntraBio Investigational New Drug Application Approved by the FDA for the Treatment of Tay-Sachs and Sandhoff Disease](https://intrabio.com/news/intrabio-investigational-new-drug-application-approved-by-the-fda-for-the-treatment-of-tay-sachs-and-sandhoff-disease/) - IntraBio Inc. is pleased to announce that the US Food and Drug Administration (FDA) has approved its Investigational New Drug (IND) Application for Clinical Trial IB1001-202 involving its lead compound (IB1001) for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease). The IND approval of IB1001-202 allows IntraBio to move forward with the trial at U.S. clinical
- [INTRABIO RECEIVES FDA ORPHAN DRUG DESIGNATIONS FOR IB1000S FOR ATAXIA-TELANGIECTASIA](https://intrabio.com/news/intrabio-receives-fda-orphan-drug-designations-for-ib1000s-for-ataxia-telangiectasia/) - IntraBio Inc today announced that the US Food and Drug Administration has granted Orphan Drug Designation to IB1000s for the treatment of Ataxia-Telangiectasia (A-T). A-T, alternatively known as Louis-Barr disease, refers to an autosomal-recessive cerebellar ataxia disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. Mutations in the ATM gene cause progressive degeneration to the
- [US Senate Congressional Hearing for Expediting Treatments for Rare, Fatal Diseases](https://intrabio.com/news/us-senate-congressional-hearing-for-expediting-treatments-for-rare-fatal-diseases/) - IntraBio is pleased to share an exciting media advisory shared by US Senator Rand Paul’s office regarding a US Senate Congressional Hearing that will be by the Children and Families Subcommittee of the Senate Health, Education, Labor, and Pensions Committee on the 3rd of October at 2:30 PM Eastern Time. The hearing will discuss the
- [INTRABIO RECEIVES FDA RARE PEDIATRIC DISEASE DESIGNATION FOR IB1000S FOR GM2 GANGLIOSIDOSES](https://intrabio.com/news/intrabio-receives-fda-rare-pediatric-disease-designation-for-ib1000s-for-gm2-gangliosidoses/) - IntraBio Inc is pleased to announce that the US Food and Drug Administration has granted a Rare Pediatric Disease Designation for their lead compound series, IB1000s, for the treatment of GM2 Gangliosidoses (Tay-Sachs and Sandhoff diseases). GM2 Gangliosidosis affects an estimated 1:200,000 -320,000 live births and is caused by mutations in the HEXA gene, which disrupt
- [INTRABIO RECEIVES FDA & EMA ORPHAN DRUG DESIGNATIONS FOR IB1000S FOR SPINOCEREBELLAR ATAXIAS](https://intrabio.com/news/intrabio-receives-fda-and-ema-orphan-drug-designation-for-ib1000s-f-spinocerebellar-ataxias/) - IntraBio Inc is pleased to announce that it has been granted orphan designation by the US Food and Drug Administration, and orphan medicinal drug designation by the European Commission, for its lead drug series, IB1000s, for the treatment of Spinocerebellar Ataxias, of which there are currently over 40 known subtypes. Spinocerebellar Ataxias (SCAs) refers to
- [INTRABIO RECEIVES FDA ORPHAN DESIGNATION FOR URSODEOXYCHOLIC ACID TREATMENT OF NIEMANN-PICK DISEASES](https://intrabio.com/news/intrabio-receives-fda-orphan-designation-for-ursodeoxycholic-acid-treatment-of-niemann-pick-diseases/) - IntraBio Inc today announced that the US Food and Drug Administration has granted Orphan Drug Designation to Ursodeoxycholic Acid (UDCA) for the treatment of Niemann-Pick disease type C. Niemann-Pick Disease Type C affects 1:100,000 live births, and is most commonly caused by dysfunction of the NPC1 protein leading to the accumulation of lipids in lysosomes,
- [INTRABIO RECEIVES FDA RARE PEDIATRIC DISEASE DESIGNATION FOR IB1000S FOR NIEMANN-PICK DISEASE TYPE C](https://intrabio.com/news/ntrabio-receives-fda-rare-pediatric-disease-designation-for-ib1000s-for-niemann-pick-disease-type-c/) - IntraBio Inc is pleased to announce that the US Food and Drug Administration has granted a Rare Pediatric Disease Designation for their lead compound series, IB1000s, for the treatment of Niemann-Pick disease type C. Niemann-Pick Disease Type C (NPC) is a rare, devastating, neurovisceral autosomal-recessive inherited metabolic, lysosomal storage disorder (LSD) that predominantly affects pediatric
- [INTRABIO RECEIVES FDA ORPHAN DRUG DESIGNATION FOR IB1000S FOR GM2 GANGLIOSIDOSES](https://intrabio.com/news/intrabio-receives-fda-orphan-drug-designation-for-gm2-gangliosidoses/) - IntraBio Inc has announced that it has been granted orphan designation by the US Food and Drug Administration for its lead drug series, IB1000s, for therapeutic use in the rare lysosomal storage disorders GM2 Gangliosidoses (Sandhoff and Tay-Sachs Disease). GM2 Gangliosidosis affects an estimated 1:200,000 -320,000 live births and is caused by mutations in the HEXA
- [INTRABIO RECEIVES FDA ORPHAN DRUG DESIGNATION FOR IB1000S FOR NIEMANN-PICK DISEASE TYPE C](https://intrabio.com/news/intrabio-receives-fda-orphan-drug-designation-for-ib1000s-for-npc/) - IntraBio Inc has announced that it has been granted orphan designation by the US Food and Drug Administration for its lead drug series, IB1000s, for therapeutic use in the rare lysosomal storage disorders Niemann-Pick disease type C. Niemann-Pick Disease Type C affects 1:100,000 live births and is most commonly caused by dysfunction of the NPC1
- [INTRABIO RECEIVES EMA ORPHAN MEDICINAL DRUG DESIGNATION FOR IB1000S FOR GM2 GANGLIOSIDOSES](https://intrabio.com/news/intrabio-receives-ema-orphan-medicinal-drug-designation-for-gm2-gangliosidoses/) - IntraBio Ltd is pleased to announce that it has been granted orphan medicinal drug designation by the European Commission for its lead drug series, IB1000s, for therapeutic use in the rare lysosomal storage disorders GM2 Gangliosidoses (Sandhoff and Tay-Sachs Disease). GM2 Gangliosidosis affects an estimated 1:200,000 -320,000 live births and is caused by mutations in the
- [INTRABIO RECEIVES EMA ORPHAN DESIGNATION FOR URSODEOXYCHOLIC ACID TREATMENT OF NIEMANN-PICK DISEASES](https://intrabio.com/news/intrabio-receives-orphan-designation-for-ursodeoxycholic-acid-treatment-of-niemann-pick-diseases/) - IntraBio Ltd, a clinical stage biopharmacuetical company developing treatments for rare lysosomal storage disorders and neurodegenerative diseases, today announced that the European Commission has granted Orphan Drug Designation (EU/3/17/1878) to Ursodeoxycholic Acid (UDCA) for the treatment of Niemann-Pick disease (NPC) Type A, B, and C. “We are pleased to receive orphan designation for UDCA, which
- [INTRABIO RECEIVES EMA ORPHAN DESIGNATION FOR IB1000s FOR NIEMANN-PICK DISEASE TPYE C](https://intrabio.com/news/intrabio-receives-orphan-designation-for-potential-new-treatment-for-rare-genetic-diseases/) - IntraBio Ltd has announced that it has been granted orphan designation (EU/3/17/1848) by the European Commission on its amino acid analogue-based drug product (IB 1000), for therapeutic use in the rare lysosomal storage disorders Niemann-Pick disease type C and also disease Types A & B. IntraBio, with its collaborators, have completed multiple observational clinical studies

## Pages

- [Home](https://intrabio.com/) - IntraBio is a leader in discovering, developing, and commercializing novel therapies and treatments for rare and neurodegenerative diseases with high unmet medical needs.
- [Virtual Patent Marking](https://intrabio.com/patents/) - This page is intended to serve as notice under 35 U.S.C. § 287(a)The following list of product(s) and patent(s) may not be inclusive. For example, a product listed here may be covered by patent(s) in the United States that are not listed. The following U.S. patents apply to IntraBio Inc’s product, AQNEURSA®: 10,905,670,11,400,067,11,471,434,11,660,279,11,793,782,11,998,518,12,144,792,12,329,733,12,433,862,12,433,863,12,458,614,12,667,550,12,697,396,12,715,839 and other
- [State Compliance](https://intrabio.com/state-compliance/) - California Declaration
- [Our Team](https://intrabio.com/our-team/) - Board of Directors Mallory Factor, ChairmanFull bio above Elizabeth Factor, Chief Admin OfficerFull bio above Christopher YegenInvestor and Philanthropist Dr. Ali KhanDean of Public Health School, University of Nebraska Medical School. Former Director of Office of Health Emergency Preparedness at CDC
- [Our Products](https://intrabio.com/our-products/) - Committed to Advancing Treatments for Rare Neurological Diseases IntraBio’s mission is to develop innovative therapies for rare and complex neurological disorders with significant unmet medical need, driven by a commitment to patients and the communities we serve.
- [Expanded Access Policy](https://intrabio.com/expanded-access-policy/) - IntraBio is dedicated to finding and developing groundbreaking therapies for rare and common neurodegenerative diseases. Our approach is rooted in an unwavering dedication to patients and families affected by these devastating diseases, and to address the huge unmet medical needs of the patient communities. Our Commitment to Clinical ResearchIntraBio is committed to delivering innovative novel
- [Privacy Policy](https://intrabio.com/privacy-policy/) - I. Introduction IntraBio Inc. and its group companies (“Company”) process personal data relating to patients, healthcare professionals, vendors, job applicants, employees, and others. “Personal Data” means information that can identify you directly or indirectly. “Processing” means any action involving Personal Data, such as collecting, storing, using, or sharing it. As part of our mission to
- [Pipeline](https://intrabio.com/pipeline/) - IntraBio’s platform technology results from decades of research and over $350 million of investments from organizations worldwide. Our pipeline has broad applicability to be developed as novel treatments for rare (“orphan”) and common neurological disorders.
- [Cookies Policy](https://intrabio.com/cookies-policy/) - When you visit our web site, it may store or retrieve information on your browser, mostly in the form of cookies. You can find out more about cookies and how to control them in the information below. Cookies are small text files that are placed on your computer or other Web-accessing devices by our websites.
- [Scientific Presentations](https://intrabio.com/publications/scientific-presentations/)
- [Lead Program](https://intrabio.com/our-lead-program/) - IB1001 IB1001 is an orally administered, modified amino acid (N-Acetyl-L-Leucine). Its safety and tolerability profile has been studied extensively in clinical trials. Given the urgent, unmet medical need, IB1001 is being developed for orphan indications where there are no FDA-approved therapies: GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) and Ataxia-Telangiectasia. This development is based on existing pre-clinical
- [Contact](https://intrabio.com/contact/) - IntraBio Please use our contact form to connect with the IntraBio team or send an email to info@intrabio.com. 201 W 5th StreetSuite 1100Austin, TX 78701United States of America +1 (833) 677-2565 To report SUSPECTED ADVERSE REACTIONS, contact IntraBio Inc. at 1-833-306-9677 or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch (http://www.fda.gov/medwatch).
- [Purchase Order Terms and Conditions](https://intrabio.com/purchase-order-terms-and-conditions/) - 1. General. These terms and conditions (the “Terms”) govern Provider’s performance, for the benefit of IntraBio Inc (“Client”), of services (the “Services”) or provision of goods (“Goods”) described in the attached Quotation (the Quotation, together with these Terms executed by Provider and Client, form the “Agreement”). Client may at any time, by written order, make
- [Niemann-Pick Disease Type C (NPC) ](https://intrabio.com/disease-information/niemannpickdiseasetypec/) - Niemann-Pick disease Type C (NPC) is a rare genetic disorder, occurring in approximately 1 in 100,000 live births. It is an autosomal recessive, lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes. These mutations lead to lysosomal and mitochondrial dysfunction, resulting in progressive neurodegeneration. Clinical Symptoms NPC is a heterogenous disease
- [What We Do](https://intrabio.com/our-mission/) - IntraBio is a biopharmaceutical company focused on discovering, developing, and commercializing therapies for neurodegenerative diseases with high unmet medical needs​ Our clinical programs leverage the expertise of our scientific founders from the University of Oxford and University of Munich, the preeminent experts and pioneers in discovering and developing small molecule drugs that modulate lysosomal function and intracellular
- [Mechanism of Action](https://intrabio.com/mechanism-of-action/)
- [Non-clinical Studies](https://intrabio.com/publications/ib1000-series/non-clinical-studies/)
- [Clinical Studies](https://intrabio.com/publications/ib1000-series/clinical-studies/)
- [GM2 Gangliosidosis](https://intrabio.com/disease-information/gm2-gangliosidosis/) - GM2 Ganglioisosis (Tay-Sachs and Sandhoff disease) is a rare autosomal recessive disorder that affects an estimated 1-9:100,000 people and are caused by mutations in the HEXA gene, which disrupts the activity of the enzyme beta-hexosaminidase A, preventing the enzyme from breaking down GM2 gangliosides. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which
- [Ataxia-Telangiectasia](https://intrabio.com/disease-information/ataxia-telangiectasia/) - Ataxia-Telangiectasia (A-T), alternatively known as Louis-Barr disease, refers to an autosomal-recessive cerebellar ataxia disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T is a rare inherited disorder that affects an estimated 1:40,000 – 100,000 people worldwide. Mutations in the ATM gene cause progressive degeneration to the cerebellum, central nervous system (CNS), and
- [Disease Information](https://intrabio.com/disease-information/) - Ataxia-TelangiectasiaAtaxia-Telangiectasia (A-T), alternatively known as Louis-Barr disease, refers to an autosomal-recessive cerebellar ataxia disorder caused by mutations in the ataxia telangiectasia mutated (ATM) gene. A-T is a rare inherited disorder that affects an estimated 1:40,000 – 100,000 people worldwide. Mutations in the ATM gene cause progressive degeneration to the cerebellum, central nervous system (CNS), and
- [Clinical Trials](https://intrabio.com/clinical-trials/) - IB1001 CLINICAL TRIALS IntraBio is developing its lead compound IB1001 (N-acetyl-L-leucine) for the treatment of rare and common neurological disorders. Information on active clinical programs is listed below.Niemann-Pick disease type C (NPC) IntraBio has conducted two multinational clinical trials with IB1001 for NPC (positive Phase IIb and Phase III studies). IB1001-301 – Effects of N-Acetyl-L-Leucine on Niemann-Pick
- [Ethics Policy](https://intrabio.com/ethics-policy/) - Policy goes here
- [IB1000 Series](https://intrabio.com/publications/ib1000-series/)
- [News](https://intrabio.com/publications/news/)
- [Other](https://intrabio.com/publications/other/)
- [Publications](https://intrabio.com/publications/)

## Teams

- [Cass Fields](https://intrabio.com/our-team/cass-fields/) - Cass Fields is Vice President of External Affairs and Marketing at IntraBio Inc. At IntraBio, she leads the company's communications, marketing, brand, strategic partnerships, and patient advocacy functions across North America and Europe, overseeing engagement with patient communities, scientific researchers, healthcare professionals, industry partners, and regulators on matters related to the development and commercialization of
- [Taylor Fields](https://intrabio.com/our-team/taylor-fields/) - Taylor Fields is Chief Product Development Officer & President Product Development of IntraBio Inc. Prior to joining IntraBio, she obtained her master’s degree at the University of Oxford in systems design. At IntraBio, she leads all efforts related to the discovery, development, and approval of IntraBio’s novel treatment and therapies. She is principally responsible for
- [Stephen Hahn](https://intrabio.com/our-team/steve-hahn/) - Stephen Hahn is a senior advisor to IntraBio and the former Commissioner of the US Food and Drug Administration (FDA). Before becoming commissioner, he was an oncologist serving as chief medical executive of the MD Anderson Cancer Center.
- [Prof. Michael Strupp MD FRCP FANA FEAN](https://intrabio.com/our-team/prof-michael-strupp/) - Professor Michael Strupp, MD, FRCP, FANA, FEAN is a Scientific Founder for IntraBio Inc. Professor Strupp is a Professor at the University of Munich, Germany in the Department of Neurology and German Centre for Vertigo and Balance Disorders. His expertise is in therapy for vestibular, ocular motor, and cerebellar disorders. Professor Strupp’s research has demonstrated
- [Prof. Mallory Factor KCN](https://intrabio.com/our-team/prof-mallory-factor-kcng/) - Professor Mallory Factor KCN is the Founder, President and CEO of IntraBio Inc. A serial entrepreneur, Professor Factor has successfully launched, developed and/or invested in numerous early-stage companies over his 30-year career, including two medical devices startups which resulted in an IPO and a successful trade sale, respectively. Professor Factor has had an extensive career
- [Mark Lubkeman](https://intrabio.com/our-team/mark-lubkeman/) - Mark Lubkeman was IntraBio’s Chief Operating Officer. In that role, he was responsible for the planning and execution of our successful 2024 US AQNEURSA launch. His responsibilities spanned across the Commercial and Operations value chain, including building our US team and guiding our ex-US team. Before his role as COO, Mark was a Managing Director and
- [Marc C. Patterson, MD, FRACP, FAAN, FANA](https://intrabio.com/our-team/marc-c-patterson-md-fracp-faan-fana/) - Marc C. Patterson, M.D., is the US Chief Medical Officer of IntraBio Inc. He was appointed as Professor of Neurology, Pediatrics and Medical Genetics at Mayo Clinic from 2009 through 2024. He became Emeritus Professor in January, 2025. Dr Patterson served as Director of the Child Neurology Training Program at Mayo (2008-2016), and Chair of
- [Ian Rosen](https://intrabio.com/our-team/ian-rosen/) - Ian Rosen is Chief Business Officer of IntraBio Inc. Ian brings entrepreneurial, investment and finance experience, building businesses in investment management, renewable energy and storage and sustainable property development, most notably as a founder of Temporis, a leading UK and Irish sustainability-driven group. Prior to Temporis, he worked for more than 15 years in investment
- [Dr. Ian Billington](https://intrabio.com/our-team/dr-ian-billington/) - Dr. Ian Billington is the Intellectual Property Manager of IntraBio Inc. Dr. Billington brings nearly 25 years of experience in pharma consulting and finance, especially in the areas of structuring highly sophisticated instruments and using complex legal and corporate entities for risk mitigation, and is responsible for IntraBio’s overall intellectual property efforts and regulatory strategy.
- [Sir Jonathan Symonds](https://intrabio.com/our-team/sir-jonathan-symonds/) - Sir Jonathan Symonds is a Senior Advisor to IntraBio Inc. Sir Jonathan is the Chair of GSK plc. He has extensive life sciences, international finance, and governance experience. He served as an Independent Non-Executive Director of HSBC Holdings plc from April 2014 and as Chairman of the Group Audit Committee from 1 September 2014 and Deputy
- [Dave McLennan](https://intrabio.com/our-team/dave-mclennan/) - David McLennan is the Vice President of Finance of Intrabio Inc. He has over 17 years of experience, including nine in the biotech industry for public and private companies. He has a broad skill set and knowledge base encompassing SEC filings, financings, product licensing, M&A, full-scope accounting and finance activities, general and administrative operations, early drug discovery, clinical
- [Jim Meyers](https://intrabio.com/our-team/jim-meyers/) - Jim Meyers is the President and Chief Executive Officer of IntraBio Inc. He is an accomplished commercial leader and brings more than thirty years of experience within the biotechnology industry. Twenty-two of those thirty years were spent at Gilead Sciences, most recently serving as Executive Vice President of Worldwide Commercial Operations and Chief Commercial Officer,
- [Elizabeth Factor](https://intrabio.com/our-team/elizabeth-factor/) - Elizabeth Factor is the Chief Administrative Officer and Member of the Board of Directors of IntraBio Inc. As a former Director and Audit Committee Member for the United Nations Development Corporation, a Private Member of the New York State Financial Control Board, and as a Commissioner and Executive Committee Member of the South Carolina Arts
- [Jason Brueschke](https://intrabio.com/our-team/jason-brueschke/) - Jason Brueschke is Special Advisor of Investor Relations of IntraBio Inc. Mr. Brueschke has over 25 years of experience working in finance, law and start-ups. Prior to joining IntraBio, he worked for nearly eight years as a senior equity analyst focusing on high-growth sectors at Discovery Capital Management, a dual-strategy Macro + Equity Long/Short hedge
- [Prof. Antony Galione FRS FMedSci](https://intrabio.com/our-team/prof-antony-galione-frs-fmedsci/) - Professor Antony Galione FRS FMedSci is a Scientific Founder and Consultant of IntraBio Inc. In 2016, Professor Galione was elected a Fellow of The Royal Society for his groundbreaking work on calcium signalling. Professor Galione is a Statutory Professor of Pharmacology at the University of Oxford, and former department head. Professor Galione has received the
- [Prof. Frances Platt FRS FMedSci](https://intrabio.com/our-team/prof-frances-platt-frs-fmedsci/) - Professor Platt is a Scientific Founder and Consultant of IntraBio Inc. She is the Head of the Department, and Professor of Biochemistry and Pharmacology in the Department of Pharmacology at the University of Oxford, and her research focusses on the biology and pathobiology of glycosphingolipids and lysosomal storage disorders. Previously, Professor Platt’s research led to
- [Prof. Grant Churchill](https://intrabio.com/our-team/prof-grant-churchill/) - Professor Grant Churchill is a Scientific Founder and Consultant for IntraBio Inc. Professor Churchill is Tutorial Fellow in Medicine at the University of Oxford (New College) and Professor in Chemical Pharmacology in the Department of Pharmacology. His main research has been guided by the unifying concept that small molecules can be designed and synthesized to
- [Prof. Wolfgang Oertel MD PhD](https://intrabio.com/our-team/prof-wolfgang-oertel-md-phd/) - Professor Wolfgang Oertel is a Scientific Consultant to IntraBio Inc. Professor Oertel is a professor of neurology at Philipps University of Marburg (Germany). He served as chairman of the department from 1996 to 2014. Since 2014, he has held the distinguished Hertie Senior Research Professorship. Professor Oertel’s research focuses on the pathogenesis, diagnosis, imaging, and
- [Alex Gorsky](https://intrabio.com/our-team/alex-gorsky/) - Alex Gorsky is the former Chairman and Chief Executive Officer at Johnson & Johnson.Mr. Gorsky began his Johnson & Johnson career as a sales representative with Janssen Pharmaceutica in 1988. Over the next 15 years, he advanced through positions of increasing responsibility in sales, marketing and management including assignments in the U.S., Europe, Africa and
- [Stephen Aselage](https://intrabio.com/our-team/stephen-aselage/) - Stephen Aselage is a Senior Advisor to IntraBio Inc. Mr. Aselage most recently served as Chief Executive Officer of Travere Therapeutics, a biopharmaceutical company specializing in identifying, developing, and delivering life-changing therapies to people living with rare diseases, which he joined in 2012. He has more than 40 years of experience in the biopharmaceutical industry,

## Publications

- [N-acetyl-l-leucine lowers pS129-synuclein and improves synaptic function in models of Parkinson's disease](https://intrabio.com/our-publication/n-acetyl-l-leucine-lowers-ps129-synuclein-and-improves-synaptic-function-in-models-of-parkinsons-disease/)
- [Acetyl-Leucine Improves Cerebellar Dysarthria in MSA-C](https://intrabio.com/our-publication/acetyl-leucine-improves-cerebellar-dysarthria-in-msa-c/)
- ["How to save a marriage": treatment of REM sleep behavior disorder (RBD) with acetyl-leucine in a patient with Parkinson's disease](https://intrabio.com/our-publication/how-to-save-a-marriage-treatment-of-rem-sleep-behavior-disorder-rbd-with-acetyl-leucine-in-a-patient-with-parkinsons-disease/)
- [Therapeutic potential of acetyl-DL-leucine and its L-enantiomer in posterior fossa syndrome: Mechanistic insights](https://intrabio.com/our-publication/therapeutic-potential-of-acetyl-dl-leucine-and-its-l-enantiomer-in-posterior-fossa-syndrome-mechanistic-insights/)
- [Stereospecific rapid activation of Transcription Factor EB (TFEB) by Levacetylleucine (NALL)](https://intrabio.com/our-publication/stereospecific-rapid-activation-of-transcription-factor-eb-tfeb-by-levacetylleucine-nall/)
- [N-Acetyl-l-Leucine (NALL) rescues inter-organelle communication in Niemann-Pick disease type-C patient cells](https://intrabio.com/our-publication/n-acetyl-l-leucine-nall-rescues-inter-organelle-communication-in-niemann-pick-disease-type-c-patient-cells/)
- [Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C](https://intrabio.com/our-publication/disease-modifying-neuroprotective-effect-of-n-acetyl-l-leucine-in-adult-and-pediatric-patients-with-niemann-pick-disease-type-c/) - Disease-Modifying, Neuroprotective Effect of N-Acetyl-L-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C
- [Tourette syndrome: effects of acetyl-leucine in two individuals](https://intrabio.com/our-publication/tourette-syndrome-effects-of-acetyl-leucine-in-two-individuals/) - Tourette syndrome: effects of acetyl‐leucine in two individuals
- [Trends in Pharmacological Sciences Drug of the Month: Levacetylleucine (N-acetyl-L-leucine) for Niemann-Pick disease type C](https://intrabio.com/our-publication/trends-in-pharmacological-sciences-drug-of-the-month-levacetylleucine-n-acetyl-l-leucine-for-niemann-pick-disease-type-c/) - By targeting multiple pathways implicated in NPC, including energy metabolism, neuronal excitability, and autophagy regulation, NALL may help improve motor coordination, balance, as well as other central manifestations of NPC.
- [Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease](https://intrabio.com/our-publication/myeloid-cell-specific-loss-of-npc1-in-mice-recapitulates-microgliosis-and-neurodegeneration-in-patients-with-niemann-pick-type-c-disease/)
- [N-Acetyl-leucine in progressive CACNA1A ataxia: A case series](https://intrabio.com/our-publication/n-acetyl-leucine-in-progressive-cacna1a-ataxia-a-case-series/) - In all children treated with NAL, NAL resulted in rapid improvement of ataxia, (gait, balance, fine motor and speech - mean SARA improvement at first follow-up: 3.25 points). Improvement was sustained up to 3 years (mean long-term SARA improvement: 5.13 points). SCAFI and CGI-I showed similar improvement. NAL was well-tolerated, without adverse reactions.
- [Acetyl-DL-leucine in two individuals with REM sleep behavior disorder improves symptoms, reverses loss of striatal dopamine-transporter binding and stabilizes pathological metabolic brain pattern-case reports](https://intrabio.com/our-publication/acetyl-dl-leucine-in-two-individuals-with-rem-sleep-behavior-disorder-improves-symptoms-reverses-loss-of-striatal-dopamine-transporter-binding-and-stabilizes-pathological-metabolic-brain-pattern-case/) - Treatment with acetyl-leucine led to a marked decline in the clinical severity of the RBD phenotype (disappearance of aggressive dream content, reduction of dream enactment); a stabilization or reversal of the slow, progressive decline of specific striatal DAT-SPECT binding ratios; and a stabilization or reversal of the expression of the PDRP, an indicator of the
- [ORMDL MISLOCALIZATION BY IMPAIRED AUTOPHAGY IN NIEMANN-PICK TYPE C DISEASE LEADS TO INCREASED DE NOVO SPHINGOLIPID BIOSYNTHESIS](https://intrabio.com/our-publication/ormdl-mislocalization-by-impaired-autophagy-in-niemann-pick-type-c-disease-leads-to-increased-de-novo-sphingolipid-biosynthesis/) - Restoration of autophagic flux with N-acetyl-L-leucine in NPC1 deleted cells decreases ORMDL accumulation in autophagosomes and reduces accumulation of sphingolipids and their de novo biosynthesis. his work uncovered a previously unknown link between sphingolipid accumulation, ORMDL and autophagic defects present in NCP1 disease, in addition to providing further evidence and mechanistic insight for the beneficial
- [IB1001 Pivotal Trial Published in NEJM](https://intrabio.com/our-publication/trial-of-n-acetyl-l-leucine-in-niemann-pick-disease-type-c/) - In this double-blind, placebo-controlled, crossover trial, we randomly assigned patients 4 years of age or older with genetically confirmed Niemann–Pick disease type C in a 1:1 ratio to receive N-acetyl-L-leucine (NALL) for 12 weeks, followed by placebo for 12 weeks, or to receive placebo for 12 weeks, followed by NALL for 12 weeks. NALL met
- [EXPRESSION OF CA2+-PERMEABLE TWO-PORE CHANNELS (TPC) RESCUES NAADP-SIGNALLING IN TPC-DEFICIENT CELLS.](https://intrabio.com/our-publication/expression-of-ca2-permeable-two-pore-channels-tpc-rescues-naadp-signalling-in-tpc-deficient-cells/) - Recent paper showing that Two-Pore Channels are integral components of the NAADP-sensitive Ca2+ release mechanism in the endolysosomal system.Embo J. 34, 1743-58 (2015).
- [SPHINGOLIPID LYSOSOMAL STORAGE DISORDERS.](https://intrabio.com/our-publication/sphingolipid-lysosomal-storage-disorders/) - A recent review of the mechanisms underlying lysosomal storage diseases.Nature 510, 68-75 (2014).
- [IDENTIFICATION OF A CHEMICAL PROBE FOR NAADP BY VIRTUAL SCREENING.](https://intrabio.com/our-publication/identification-of-a-chemical-probe-for-naadp-by-virtual-screening/) - A paper outlining the use of in silico drug discovery software to generate a selective inhibitor of NAADP/Two-Pore Channel-mediated calcium signalling.Nat. Chem. Biol. 5, 220-226 (2009).
- [MOLECULAR MECHANISMS OF ENDOLYSOSOMAL CA2+ SIGNALLING IN HEALTH AND DISEASE.](https://intrabio.com/our-publication/molecular-mechanisms-of-endolysosomal-ca2-signalling-in-health-and-disease/) - A review outlining the concept of the endolysosomal system as a regulated calcium store.Biochem. J. 439, 349-374 (2011).
- [A PRIMER OF NAADP-MEDIATED CA2+-SIGNALLING: FROM SEA URCHIN EGGS TO MAMMALIAN CELLS](https://intrabio.com/our-publication/a-primer-of-naadp-mediated-ca2-signalling-from-sea-urchin-eggs-to-mammalian-cells/) - A review highlighting the pathophysiology of the NAADP-TPC-lysosomal calcium signalling mechanism in various cells and organs.Cell Calcium 58, 27-47 (2014).
- [NIEMANN-PICK DISEASE TYPE C1 IS A SPHINGOSINE STORAGE DISEASE THAT CAUSES DEREGULATION OF LYSOSOMAL CALCIUM](https://intrabio.com/our-publication/niemann-pick-disease-type-c1-is-a-sphingosine-storage-disease-that-causes-deregulation-of-lysosomal-calcium/) - Defines the rare lysosomal storage disease Niemann-Pick type C as the first human disease resulting from endolysosomal calcium dysfunction, and demonstrates that correction of cellular calcium homeostasis can improve disease symptoms.Nature Medicine 14, 1247-1255 (2008).
- [GAIT ATAXIA IN HUMANS: VESTIBULAR AND CEREBELLAR CONTROL OF DYNAMIC STABILITY](https://intrabio.com/our-publication/gait-ataxia-in-humans-vestibular-and-cerebellar-control-of-dynamic-stability/) - Journal of Neurology. 264 (2017).
- [A (14)C-LEUCINE ABSORPTION, DISTRIBUTION, METABOLISM AND EXCRETION (ADME) STUDY IN ADULT SPRAGUE-DAWLEY RAT REVEALS Β-HYDROXY-Β-METHYLBUTYRATE AS A METABOLITE.](https://intrabio.com/our-publication/a-14c-leucine-absorption-distribution-metabolism-and-excretion-adme-study-in-adult-sprague-dawley-rat-reveals-β-hydroxy-β-methylbutyrate-as-a-metabolite/) - Amino Acids. 2015 May;47(5):917-24. doi: 10.1007/s00726-015-1920-6. Epub 2015 Jan 25. PMID: 25618754.
- [N-ACETYL-L-LEUCINE PROTECTS MPTP-TREATED PARKINSON’S DISEASE MOUSE MODELS BY SUPPRESSING DESULFOBACTEROTA VIA THE GUT-BRAIN AXIS](https://intrabio.com/our-publication/n-acetyl-l-leucine-protects-mptp-treated-parkinsons-disease-mouse-models-by-suppressing-desulfobacterota-via-the-gut-brain-axis/) - Orally administration of N-acetyl-L-leucine alleviated motor impairments and dopamine neuronal deficits in an animal model of Parkinson’s disease. The findings are consistent with the neuroprotective effects of N-acetyl-L-leucine in several other neurodegenerative disorders.
- [EFFICIENT NEUROPROTECTIVE RESCUE OF SACSIN-RELATED DISEASE PHENOTYPES IN ZEBRAFISH](https://intrabio.com/our-publication/efficient-neuroprotective-rescue-of-sacsin-related-disease-phenotypes-in-zebrafish/) - The fish model of Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (Sacs−/− larvae) was treated with Acetyl-DL-leucine. Acetyl-DL- leucine improved locomotor and biochemical phenotypes in disorder by mediating significant rescue of the molecular functions altered by sacsin loss, demonstrating the neuroprotective effect of the treatment. International Journal of Molecular Sciences.
- [ACETYLATION TURNS LEUCINE INTO A DRUG BY MEMBRANE TRANSPORTER SWITCHING](https://intrabio.com/our-publication/acetylation-turns-leucine-into-a-drug-by-membrane-transporter-switching/) - Small changes to molecules can have profound effects on their pharmacological activity as exemplified by the addition of the two‐carbon acetyl group to make drugs more effective by enhancing their pharmacokinetic or pharmacodynamic properties. Here we show that acetylation of leucine switches its uptake into cells from the l‐type amino acid transporter (LAT1) used by
- [ACETYLATION OF L-LEUCINE SWITCHES ITS CARRIER FROM THE L-AMINO ACID TRANSPORTER (LAT) TO ORGANIC ANION TRANSPORTERS (OAT)](https://intrabio.com/our-publication/acetylation-of-l-leucine-switches-its-carrier-from-the-l-amino-acid-transporter-lat-to-organic-anion-transporters-oat/) - N-acetylation removes a charge from the nitrogen at physiological pH and N-acetyl-L-leucine is an anion that is then a substrate for the organic anion transporters. We examined N-acetyl-L-leucine uptake in human embryonic kidney cells overexpression candidate organic anion transporters (OAT) and pharmacological inhibitors. We found that N-acetyl-L-leucine is a translocated substrate for OAT1 and OAT3
- [ACETYL-LEUCINE SLOWS DISEASE PROGRESSION IN LYSOSOMAL STORAGE DISORDERS](https://intrabio.com/our-publication/acetyl-leucine-slows-disease-progression-in-lysosomal-storage-disorders/) - Acetyl-leucine improved symptoms of ataxia in particular in mice models and patients with the lysosomal storage disorders (LSD), Niemann-Pick disease type C and GM2 Gangliosidosis. When N-acetyl-DL-leucine and N-acetyl-L-leucine were administered pre-symptomatically to Npc1-/- mice, both treatments delayed disease progression and extended life span, whereas ADL did not. These data are consistent with ALL being
- [BENEFICIAL EFFECTS OF ACETYL-DL-LEUCINE (ADLL) IN A MOUSE MODEL OF SANDHOFF DISEASE](https://intrabio.com/our-publication/beneficial-effects-of-acetyl-dl-leucine-adll-in-a-mouse-model-of-sandhoff-disease/) - In Vivo studies with Acetyl-leucine significantly slowed disease progression and improved motor function in the GM2 gangliosidoses Sandhoff mouse model (Hexb-/-), supportive of the symptomatic and disease-modifying potential of treatment for patients with GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease).
- [EFFECTS OF N-ACETYL-LEUCINE AND ITS ENANTIOMERS IN NIEMANN-PICK DISEASE TYPE C CELLS](https://intrabio.com/our-publication/effects-of-n-acetyl-leucine-and-its-enantiomers-in-niemann-pick-disease-type-c-cells/) - N-Acetyl-DL-Leucine and N-Acetyl-L-Leucine reduced the relative lysosomal volume in NPC1-/- Chinese Hamster Ovary cells in a dose-dependent manner. N-Acetyl-L-Leucine was most effective at reducing relative lysosomal volumes in fibroblasts derived from NPC patients with severe disease (***p
- [SANDHOFF DISEASE: IMPROVEMENT OF GAIT BY ACETYL-DL-LEUCINE: A CASE REPORT](https://intrabio.com/our-publication/sandhoff-disease-improvement-of-gait-by-acetyl-dl-leucine-a-case-report/) - Observational case-series: symptomatic and disease-modifying treatment effect with Acetyl-Leucine in a Juvenile Sandhoff patient.
- [EFFICACY AND SAFETY OF N-ACETYL-L-LEUCINE IN NIEMANN-PICK DISEASE TYPE](https://intrabio.com/our-publication/efficacy-and-safety-of-n-acetyl-l-leucine-in-niemann-pick-disease-type/) - The IB1001-201 clinical trial with N-acetyl-L-leucine (IB1001) met its primary and secondary endpoints and demonstrated a statistically significant and clear clinically meaningful improvement in symptoms, functioning, and quality of life for pediatric and adult patients with NPC. IB1001 was well-tolerated and no drug-related serious adverse events were reported, demonstrating a favorable risk-benefit profile for the
- [EFFICACY AND SAFETY OF N-ACETYL-L-LEUCINE IN CHILDREN AND ADULTS WITH GM2 GANGLIOSIDOSES](https://intrabio.com/our-publication/efficacy-and-safety-of-n-acetyl-l-leucine-in-children-and-adults-with-gm2-gangliosidoses/) - The IB1001-202 clinical trial with N-acetyl-L-leucine (IB1001) met its primary and secondary endpoints and demonstrated a statistically significant and clear clinically meaningful improvement in symptoms, functioning, and quality of life for pediatric and adult patients with GM2 Gangliosidosis (Tay-Sachs and Sandhoff). IB1001 was well-tolerated and no drug-related serious adverse events were reported, demonstrating a favorable
- [EFFECTS OF ACETYL-DL-LEUCINE ON ATAXIA AND DOWNBEAT-NYSTAGMUS IN SIX PATIENTS WITH ATAXIA TELANGIECTASIA](https://intrabio.com/our-publication/effects-of-acetyl-dl-leucine-on-ataxia-and-downbeat-nystagmus-in-six-patients-with-ataxia-telangiectasia/) - N-acetyl-leucine improved ataxia and ocular stability in 6 patients with Ataxia-Telangiectasia after 1-month treatment.
- [THE EFFECT OF N-ACETYL-DL-LEUCINE ON NEUROLOGICAL SYMPTOMS IN A PATIENT WITH ATAXIA-TELANGIECTASIA: A CASE STUDY](https://intrabio.com/our-publication/the-effect-of-n-acetyl-dl-leucine-on-neurological-symptoms-in-a-patient-with-ataxia-telangiectasia-a-case-study/) - Treatment with N-acetyl-DL-leucine for 16 weeks in a 9-year-old patient with Ataxia-Telangiectasia was well tolerated and significantly improved ataxia symptoms and quality of life measures. Cerebellum.
- [ACETYL-DL-LEUCINE IN COMBINATION WITH MEMANTINE IMPROVES ACQUIRED PENDULAR NYSTAGMUS CAUSED BY MULTIPLE SCLEROSIS: A CASE REPORT](https://intrabio.com/our-publication/acetyl-dl-leucine-in-combination-with-memantine-improves-acquired-pendular-nystagmus-caused-by-multiple-sclerosis-a-case-report/) - The combination of Acetyl-leucine and memantine significantly improved oscillopsia, nystagmus, stance and gait in a patient with secondary progressive Multiple Sclerosis. The patient has remained on treatment for over 5 years, with sustained benefit. No side effects have been reported.
- [N-ACETYL-L-LEUCINE FOR NIEMANN-PICK TYPE C: A MULTINATIONAL DOUBLE-BLIND RANDOMIZED PLACEBO-CONTROLLED CROSSOVER STUDY](https://intrabio.com/our-publication/n-acetyl-l-leucine-for-niemann-pick-type-c-a-multinational-double-blind-randomized-placebo-controlled-crossover-study/) - This multinational double-blind randomized placebo-controlled crossover phase III study will enroll patients with a genetically confirmed diagnosis of NPC patients aged 4 years and older across 16 trial sites. Patients are assessed during a baseline period and then randomized (1:1) to one of two treatment sequences: IB1001 followed by placebo or vice versa. Each sequence
- [N-ACETYL-L-LEUCINE AND NEURODEGENERATIVE DISEASE](https://intrabio.com/our-publication/n-acetyl-l-leucine-and-neurodegenerative-disease/) - This editorial describes the science behind a study of N-acetyl-l-leucine to treat a specific lysosomal storage disorder, Niemann–Pick disease type C. N Engl J Med 2024; 390:467-470
- [UPDATE ON THE PHARMACOTHERAPY OF CEREBELLAR AND CENTRAL VESTIBULAR DISORDERS.](https://intrabio.com/our-publication/update-on-the-pharmacotherapy-of-cerebellar-and-central-vestibular-disorders/) - Journal of Neurology 263 (2016).
- [UNEXPECTED DIFFERENCES IN THE PHARMACOKINETICS OF N-ACETYL DL-LEUCINE ENANTIOMERS AFTER ORAL DOSING AND THEIR CLINICAL RELEVANCE](https://intrabio.com/our-publication/unexpected-differences-in-the-pharmacokinetics-of-n-acetyl-dl-leucine-enantiomers-after-oral-dosing-and-their-clinical-relevance/) - PLOS ONE, 2020: 15(2)
- [N‐ACETYL‐L‐LEUCINE IMPROVES FUNCTIONAL RECOVERY AND ATTENUATES CORTICAL CELL DEATH AND NEUROINFLAMMATION AFTER TRAUMATIC BRAIN INJURY IN MICE](https://intrabio.com/our-publication/n‐acetyl‐l‐leucine-improves-functional-recovery-and-attenuates-cortical-cell-death-and-neuroinflammation-after-traumatic-brain-injury-in-mice/) - Scientific Reports, 2021. https://rdcu.be/cjEGa Treatment with N-acetyl-L-leucine is expected to be beneficial in restricting neuronal death and hence improving neurological function after Traumatic Brain Injury (TBI) and is a promising, novel, neuroprotective drug candidate for the treatment of TBI.

## Scientific Presentations

- [Long-term (30 Months) Outcomes of N-acetyl-L-leucine in Adults and Children with Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/long-term-30-months-outcomes-of-n-acetyl-l-leucine-in-adults-and-children-with-niemann-pick-disease-type-c/)
- [Results from the Global Phase 3 Clinical Trial (IB1001-303) Evaluating Levacetylleucine in Ataxia-Telangiectasia](https://intrabio.com/news/presentation/results-from-the-global-phase-3-clinical-trial-ib1001-303-evaluating-levacetylleucine-in-ataxia-telangiectasia/)
- [Measuring Functional Abilities and Assistance Level in Niemann-Pick disease type C, GM2 gangliosidoses, and Ataxia](https://intrabio.com/news/presentation/measuring-functional-abilities-and-assistance-level-in-niemann-pick-disease-type-c-gm2-gangliosidoses-and-ataxia/)
- [Results from the Global Phase 3 Trial (IB1001-303) Evaluating Levacetylleucine in Children and Adults with Ataxia-Telangiectasia](https://intrabio.com/news/presentation/results-from-the-global-phase-3-trial-ib1001-303-evaluating-levacetylleucine-in-children-and-adults-with-ataxia-telangiectasia/)
- [Long-Term 30-Month Findings of N-acetyl-L-leucine for Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/long-term-30-month-findings-of-n-acetyl-l-leucine-for-niemann-pick-disease-type-c/)
- [Expanded Access Program of Levacetylleucine in Ataxia-Telangiectasia](https://intrabio.com/news/presentation/expanded-access-program-of-levacetylleucine-in-ataxia-telangiectasia/)
- [Long-Term Findings of N-Acetyl-L-Leucine for Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/long-term-findings-of-n-acetyl-l-leucine-for-niemann-pick-disease-type-c/)
- [Subdomain Analysis of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale Evaluating the Long-Term Effects of N-Acetyl-L-Leucine in Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/subdomain-analysis-of-the-5-domain-niemann-pick-disease-type-c-clinical-severity-scale-evaluating-the-long-term-effects-of-n-acetyl-l-leucine-in-niemann-pick-disease-type-c/)
- [SARA Subgroup Analysis Based on Disease Duration in a Phase 2 Trial Evaluating N-Acetyl-L-Leucine in GM2 Gangliosidoses](https://intrabio.com/news/presentation/sara-subgroup-analysis-based-on-disease-duration-in-a-phase-2-trial-evaluating-n-acetyl-l-leucine-in-gm2-gangliosidoses/)
- [Subgroup Evaluation of Adults and Children with Niemann-Pick Disease Type C in the Phase 3 (IB1001-301) Extension Phase Assessing N-Acetyl-L-Leucine](https://intrabio.com/news/presentation/subgroup-evaluation-of-adults-and-children-with-niemann-pick-disease-type-c-in-the-phase-3-ib1001-301-extension-phase-assessing-n-acetyl-l-leucine/)
- [The Functional Independence Measure for Children (WeeFIM®) in Niemann-Pick Disease Type C Receiving Levacetylleucine](https://intrabio.com/news/presentation/the-functional-independence-measure-for-children-weefim-in-niemann-pick-disease-type-c-receiving-levacetylleucine/)
- [N-Acetyl-L-Leucine for Ataxia-Telangiectasia: A Multinational, Double-Blind, Randomized, Placebo-Controlled, Crossover Study](https://intrabio.com/news/presentation/n-acetyl-l-leucine-for-ataxia-telangiectasia-a-multinational-double-blind-randomized-placebo-controlled-crossover-study/)
- [Subgroup Analysis by Phenotype in a Phase III, Randomized, Placebo-Controlled Crossover Trial with Levacetylleucine (IB1001) for Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/subgroup-analysis-by-phenotype-in-a-phase-iii-randomized-placebo-controlled-crossover-trial-with-levacetylleucine-ib1001-for-niemann-pick-disease-type-c/)
- [Subgroup Analysis of Pediatric Patients in a Phase III, Randomized, Placebo-Controlled Crossover Trial with Levacetylleucine (IB1001) for Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/subgroup-analysis-of-pediatric-patients-in-a-phase-iii-randomized-placebo-controlled-crossover-trial-with-levacetylleucine-ib1001-for-niemann-pick-disease-type-c/)
- [Long-Term 24-Month Findings of N-acetyl-L-leucine for Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/long-term-24-month-findings-of-n-acetyl-l-leucine-for-niemann-pick-disease-type-c-2/)
- [Long-Term 52-Week Findings on N-Acetyl-L-Leucine for GM2 Gangliosidoses](https://intrabio.com/news/presentation/long-term-52-week-findings-on-n-acetyl-l-leucine-for-gm2-gangliosidoses/)
- [SCAFI Subtest and SARA Eight-Item Subgroup Analysis of N-Acetyl-L-Leucine in Phase II, Randomized, Rater-Blinded Crossover Trial for GM2 Gangliosidoses](https://intrabio.com/news/presentation/scafi-subtest-and-sara-eight-item-subgroup-analysis-of-n-acetyl-l-leucine-in-phase-ii-randomized-rater-blinded-crossover-trial-for-gm2-gangliosidoses/)
- [Long-Term 52-Week Findings on N-Acetyl-L-Leucine for GM2 Gangliosidoses (Tay-Sachs and Sandhoff Disease)](https://intrabio.com/news/presentation/long-term-52-week-findings-on-n-acetyl-l-leucine-for-gm2-gangliosidoses-tay-sachs-and-sandhoff-disease/)
- [Long-Term 24-Month Findings of N-acetyl-L-leucine for Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/long-term-24-month-findings-of-n-acetyl-l-leucine-for-niemann-pick-disease-type-c/)
- [SARA Eight-Item Subgroup Analysis of N-Acetyl-L-Leucine for Niemann-Pick Disease Type C](https://intrabio.com/news/presentation/sara-eight-item-subgroup-analysis-of-n-acetyl-l-leucine-for-niemann-pick-disease-type-c/)
- [Subgroup and Subdomain Analysis of Patients in a Phase III, Randomized, Placebo-Controlled Crossover Trial with Levacetylleucine (IB1001) for Niemann-Pick Disease Type C With Long Term Follow-Up](https://intrabio.com/news/presentation/subgroup-and-subdomain-analysis-of-patients-in-a-phase-iii-randomized-placebo-controlled-crossover-trial-with-levacetylleucine-ib1001-for-niemann-pick-disease-type-c-with-long-term-follow-up/)

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