Niemann-Pick Disease, Type CPhase 3NCT05163288
A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
A Phase 3 study testing N-Acetyl-L-Leucine in people with Niemann-Pick Disease, Type C, run by IntraBio Inc at 14 sites in 8 countries.
Trial summary
A pivotal, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Niemann Pick disease type C (NPC). Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Niemann-Pick Disease, Type C
- What is being tested?
- N-Acetyl-L-Leucine
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 53 participants
- Where
- 14 sitesin 8 countries
- Study dates
- 30 Jun 2022to Dec 2030
- Phase
- Phase 3
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Written informed consent signed by the patient and/or their legal representative/ parent/ impartial witness
- Male or female aged ≥4 years with a confirmed genetic diagnosis of NPC at the time of signing informed consent.
- Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive (sexually abstinent for 14 days prior to the first dose and confirm to continue through 28 days after the last dose) or using one of the following highly effective contraceptives (i.e. results in <1% failure rate when used consistently and correctly) 14 days prior to the first dose continuing through 28 days after the last dose:
- intrauterine device (IUD);
- surgical sterilization of the partner (vasectomy for 6 months minimum);
- combined (estrogen or progestogen containing) hormonal contraception associated with the inhibition of ovulation (either oral, intravaginal, or transdermal);
Show all 25Show fewer
- progestogen only hormonal contraception associated with the inhibition of ovulation (either oral, injectable, or implantable);
- intrauterine hormone releasing system (IUS);
- bilateral tubal occlusion.
- Females of non-childbearing potential who have undergone one of the following sterilization procedures at least 6 months prior to the first dose:
- hysteroscopic sterilization;
- bilateral tubal ligation or bilateral salpingectomy;
- hysterectomy;
- bilateral oophorectomy; OR be postmenopausal with amenorrhea for at least 1 year prior to the first dose and follicle stimulating hormone (FSH) serum levels consistent with postmenopausal status. FSH analysis for postmenopausal women will be done at screening. FSH levels should be in the postmenopausal range as determined by the central laboratory.
- Non-vasectomized male patient agrees to use a condom with spermicide or abstain from sexual intercourse during the study until 90 days beyond the last dose of study medication and the female partner agrees to comply with inclusion criteria 3 or 4.
- For a vasectomized male who has had his vasectomy 6 months or more prior to study start, it is required that they use a condom during sexual intercourse. A male who has been vasectomized less than 6 months prior to study start must follow the same restrictions as a non-vasectomized male.
- If male, patient agrees not to donate sperm from the first dose until 90 days after their last dose.
- Patients must fall within:
- A SARA score of 7 ≤ X ≤ 34 points (out of 40) AND b) Either: i. Within the 2-7 range (0-8 range) of the Gait subtest of the SARA scale OR ii. Be able to perform the 9-Hole Peg Test with Dominant Hand (9HPT-D) (SCAFI subtest) in 20 ≤ X ≤150 seconds.
- Weight ≥15 kg at screening.
- Patients are willing to disclose their existing medications/therapies for (the symptoms) of NPC including those on the prohibited medication list. Non-prohibited medications/therapies (authorized medicines for NPC [e.g. miglustat], speech therapy, and physiotherapy) are permitted provided:
- The Investigator does not believe the medication/therapy will interfere with the study protocol/results
- Patients have been on a stable dose/duration and type of therapy for at least 42 days before Visit 1 (Baseline 1)
- Patients are willing to maintain a stable dose/do not change their therapy throughout the duration of the study.
- An understanding of the implications of study participation, provided in the written patient information and informed consent by patients or their legal representative/parent, and demonstrates a willingness to comply with instructions and attend required study visits (for children this criterion will also be assessed in parents or appointed guardians).
Who cannot join
- Patients who are unable to consistently Patients who have any known hypersensitivity or history of hypersensitivity to:
- Acetyl-Leucine (DL-, L-, D-) or derivatives.
- Excipients the IB1001 sachet (namely isomalt, hypromellose, and strawberry flavour).
- Excipients the placebo sachet (namely isomalt, hypromellose, strawberry flavour, citric acid, microcrystalline cellulose, lactose, denatonium benzoate).
- Simultaneous participation in another clinical study or participation in any clinical study involving administration of an investigational medicinal product (IMP; 'study drug') for at least 42 days prior to Visit 1. At the discretion of the investigator, Medical Monitor, and Sponsor, the washout period for specific IMPs may be longer based on the pharmacological activity and pharmacokinetics of the drug.
- Patients with a physical, cognitive, or psychiatric condition which, at the investigator's discretion and in consultation with the Medical Monitor and Sponsor (as applicable), may put the patient at risk, may confound the study results, or may interfere with the patient's participation in the clinical study, i.e. reliably perform study assessments.
Show all 16Show fewer
- Known or persistent use, misuse, or dependency of medication, drugs, or alcohol.
- Current or planned pregnancy or women who are breastfeeding.
- Patients with severe vision or hearing impairment (that is not corrected by glasses or hearing aids) that, at the investigator's discretion, interferes with their ability to perform study assessments.
- Patients who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and/or nerves that by themselves affects patient's mobility and, at the investigator's discretion, interferes with their ability to perform study assessments.
- Patients unwilling and/or not able to undergo a 42 day period from any of the following prohibited medication prior to Visit 1 (Baseline 1) and remain without prohibited medication through Visit 6.
- N-Acetyl-DL-Leucine (e.g. Tanganil®);
- N-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-301 trial);
- Sulfasalazine;
- Rosuvastatin.
- -
Trial locations and contacts
14 sites in 8 countries. Contact the study team or a site near you to ask about taking part.
14 sites in 8 countries
Germany5 sites, 1 recruiting
- Active, not recruiting
University of Giessen
Giessen, 35389
- Completed
University of Hamburg
Hamburg, 20246
- Active, not recruiting
SphinCS - Institute of Clinical Science in Lysosomal Storage Disorders
Höchheim, 65239
- Not yet recruiting
Ludwig Maximilian University of Munich
München, 80539
Susanne Schneider-Pils, MD, +49 (0)89 4400 7677, susanne.schneider@med.uni-muenchen.de
Susanne Schneider-Pils, MD
- Active, not recruiting
University Hospital Münster
Münster, 48149
United Kingdom3 sites
- Active, not recruiting
Great Ormond Street Hospital
London, WC1N 3JH
- Active, not recruiting
Royal Free London NHS Foundation Trust
London
- Active, not recruiting
Royal Manchester Children's Hospital
Manchester, M13 9WL
Australia1 site
- Active, not recruiting
The Royal Melbourne Hospital
Parkville, Victoria, 3050
Czechia1 site
- Active, not recruiting
First Faculty of Medicine, Charles University Hospital Prague
Prague, 128 08
Netherlands1 site, 1 recruiting
- Recruiting
Amsterdam UMC
Amsterdam, 1105
Marion Brands, MD, m.m.brands@amsterdamumc.nl
Marion Brands, MD
Slovakia1 site
- Active, not recruiting
Comenius University in Bratislva
Bratislava, 833 40
Switzerland1 site
- Active, not recruiting
University Hospital Bern Inselspital
Bern, 3010
About this study
Official title: Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study
A pivotal, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Niemann Pick disease type C (NPC). The objective of this study is to evaluate the safety, tolerability and efficacy of N-acetyl-L-leucine (IB1001) compared to standard of care.
Following this randomized, double-blind, placebo-controlled "Parent Study", an extension phase is conducted for (1) patients who completed the "Parent Study" and (2) patients who are enrolled directly into the Extension Phase. Currently, the Extension Phase provides patients with 3 years of open-label treatment.
Read the detailed description
This is a multinational, randomized, placebo-controlled, double-blinded, cross-over Phase III study that will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) versus Placebo for the treatment of Niemann-Pick type C disease (NPC).
Patients will be assessed during three study periods: a baseline period (approximately 2-weeks), after which they will be randomized (1:1) to receive treatment with IB1001 or Placebo for approximately 12-weeks during the first intervention period ("Period I"). Following Period I, patients will crossover to receive the opposite treatment (IB1001 or Placebo) for approximately 12-weeks during a second intervention period ("Period II).
Patients will be assessed twice during each study period. Patients who have participated in the study may be offered the opportunity to roll over into an Extension Phase, which is planned to allow patients to have further access to IB1001.
- Conditions
- Niemann-Pick Disease, Type C
- Being tested
- N-Acetyl-L-Leucine, Placebo
- Medical subject headings
- Niemann-Pick Disease, Type C
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
N-Acetyl-L-LeucineDrug
Also called IB1001
N-Acetyl-L-Leucine is a modified amino-acid ester that is orally administered (granules for suspension in a sachet)
PlaceboOther
Matching Placebo Sachet
| Study group | Role | What they receive |
|---|---|---|
| N-acetyl-L-leucine (IB1001) | Experimental | Oral administration (granule in a sachet for suspension in water, orange juice, or almond milk). Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day); patients <13 will receive weight-tiered doses. Receives: Drug: N-Acetyl-L-Leucine |
| Placebo comparator | Placebo comparator | Oral administration (granule in a sachet for suspension in water, orange juice, or almond milk). Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day); patients <13 will receive weight-tiered doses. Receives: Other: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Scale for the Assessment and Rating of Ataxia (all jurisdictions except US)
Measured: End of Period I (week 12) vs. End of Period 2 (week 24)
Modified Scale for the Assessment and Rating of Ataxia (US only)
Measured: End of Period I (week 12) vs. End of Period 2 (week 24)
Secondary outcomes (5)
Spinocerebellar Ataxia Functional Index (SCAFI)
Measured: End of Period I (week 12) vs. End of Period 2 (week 24)
Modified Disability Rating Scale
Measured: End of Period I (week 12) vs. End of Period 2 (week 24)
Physician's / Caregiver's / Patient's Clinical Global Impressions (CGI)
Measured: End of Period I (week 12) vs. End of Period 2 (week 24)
EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale
Measured: End of Period I (week 12) vs. End of Period 2 (week 24)
Scale for the Assessment and Rating of Ataxia (US only)
Measured: End of Period I (week 12) vs. End of Period 2 (week 24)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Dec 2021
- Study start30 Jun 2022
- Primary completion12 Jun 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Niemann-Pick Disease, Type CStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Model description
- Randomized, placebo-controlled, double-blind, crossover, multi-center, study with 1:1 randomization of IB1001 plus SOC for 12-weeks versus placebo plus SOC for 12-weeks, followed by open-label extension study.
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 53 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IntraBio Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05163288
- Sponsor's protocol ID
- IB1001-301
- Status last verified
- Mar 2026
- First submitted
- 6 Dec 2021
- Last updated
- 3 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No: The results of the study will be published within a reasonable timeframe of completion. Pseudonymised individual patient data may be available in these findings.
Publications
Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13.
PubMed 34387740Kaya E, Smith DA, Smith C, Morris L, Bremova-Ertl T, Cortina-Borja M, Fineran P, Morten KJ, Poulton J, Boland B, Spencer J, Strupp M, Platt FM. Acetyl-leucine slows disease progression in lysosomal storage disorders. Brain Commun. 2020 Dec 20;3(1):fcaa148. doi: 10.1093/braincomms/fcaa148. eCollection 2021.
PubMed 33738443Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM. Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials. Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9.
PubMed 30115089Hendrickx N, Mentre F, Hamdan A, Karlsson MO, Hooker AC, Traschutz A, Gagnon C, Schule R, Synofzik M, Comets E; ARCA Study Group, EVIDENCE-RND consortium. Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA score. BMC Med Res Methodol. 2025 Jul 30;25(1):179. doi: 10.1186/s12874-025-02626-x.
PubMed 40739200Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolnikova M, Park J, Reichmannova S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T. Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. Neurology. 2025 Jul;105(1):e213589. doi: 10.1212/WNL.0000000000213589. Epub 2025 Jun 13.
PubMed 40513057Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannova S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151.
PubMed 38294974
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study
- ClinicalTrials.gov ID
- NCT05163288
- Acronym / sponsor ID
- IB1001-301
- Conditions
- Niemann-Pick Disease, Type C
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 53 participants (estimated)
- Lead sponsor
- IntraBio IncIndustry (pharma, biotech, devices)
- Study start
- 30 Jun 2022 (actual)
- Primary completion
- 12 Jun 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 20 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
A pivotal, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Niemann Pick disease type C (NPC). The objective of this study is to evaluate the safety, tolerability and efficacy of N-acetyl-L-leucine (IB1001) compared to standard of care.
Following this randomized, double-blind, placebo-controlled "Parent Study", an extension phase is conducted for (1) patients who completed the "Parent Study" and (2) patients who are enrolled directly into the Extension Phase. Currently, the Extension Phase provides patients with 3 years of open-label treatment.
Detailed description
This is a multinational, randomized, placebo-controlled, double-blinded, cross-over Phase III study that will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) versus Placebo for the treatment of Niemann-Pick type C disease (NPC).
Patients will be assessed during three study periods: a baseline period (approximately 2-weeks), after which they will be randomized (1:1) to receive treatment with IB1001 or Placebo for approximately 12-weeks during the first intervention period ("Period I"). Following Period I, patients will crossover to receive the opposite treatment (IB1001 or Placebo) for approximately 12-weeks during a second intervention period ("Period II).
Patients will be assessed twice during each study period. Patients who have participated in the study may be offered the opportunity to roll over into an Extension Phase, which is planned to allow patients to have further access to IB1001.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
- Model description
- Randomized, placebo-controlled, double-blind, crossover, multi-center, study with 1:1 randomization of IB1001 plus SOC for 12-weeks versus placebo plus SOC for 12-weeks, followed by open-label extension study.
| Arm | Type | Receives |
|---|---|---|
| N-acetyl-L-leucine (IB1001) | Experimental | Drug: N-Acetyl-L-LeucineOral administration (granule in a sachet for suspension in water, orange juice, or almond milk). Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day); patients <13 will receive weight-tiered doses. |
| Placebo comparator | Placebo comparator | Other: PlaceboOral administration (granule in a sachet for suspension in water, orange juice, or almond milk). Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day); patients <13 will receive weight-tiered doses. |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (25 listed)
- Written informed consent signed by the patient and/or their legal representative/ parent/ impartial witness
- Male or female aged ≥4 years with a confirmed genetic diagnosis of NPC at the time of signing informed consent.
- Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive (sexually abstinent for 14 days prior to the first dose and confirm to continue through 28 days after the last dose) or using one of the following highly effective contraceptives (i.e. results in <1% failure rate when used consistently and correctly) 14 days prior to the first dose continuing through 28 days after the last dose:
- Females of non-childbearing potential who have undergone one of the following sterilization procedures at least 6 months prior to the first dose:
- Non-vasectomized male patient agrees to use a condom with spermicide or abstain from sexual intercourse during the study until 90 days beyond the last dose of study medication and the female partner agrees to comply with inclusion criteria 3 or 4.
Key exclusion criteria (16 listed)
- Patients who are unable to consistently Patients who have any known hypersensitivity or history of hypersensitivity to:
- Simultaneous participation in another clinical study or participation in any clinical study involving administration of an investigational medicinal product (IMP; 'study drug') for at least 42 days prior to Visit 1. At the discretion of the investigator, Medical Monitor, and Sponsor, the washout period for specific IMPs may be longer based on the pharmacological activity and pharmacokinetics of the drug.
- Patients with a physical, cognitive, or psychiatric condition which, at the investigator's discretion and in consultation with the Medical Monitor and Sponsor (as applicable), may put the patient at risk, may confound the study results, or may interfere with the patient's participation in the clinical study, i.e. reliably perform study assessments.
- Known or persistent use, misuse, or dependency of medication, drugs, or alcohol.
- Current or planned pregnancy or women who are breastfeeding.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| N-Acetyl-L-LeucineAlso: IB1001N-Acetyl-L-Leucine is a modified amino-acid ester that is orally administered (granules for suspension in a sachet) | Drug | N-acetyl-L-leucine (IB1001) |
| PlaceboMatching Placebo Sachet | Other | Placebo comparator |
Primary outcome
Scale for the Assessment and Rating of Ataxia (all jurisdictions except US)
Time frame: End of Period I (week 12) vs. End of Period 2 (week 24)
Modified Scale for the Assessment and Rating of Ataxia (US only)
Time frame: End of Period I (week 12) vs. End of Period 2 (week 24)
5 secondary outcomes
Spinocerebellar Ataxia Functional Index (SCAFI)
Time frame: End of Period I (week 12) vs. End of Period 2 (week 24)
Modified Disability Rating Scale
Time frame: End of Period I (week 12) vs. End of Period 2 (week 24)
Physician's / Caregiver's / Patient's Clinical Global Impressions (CGI)
Time frame: End of Period I (week 12) vs. End of Period 2 (week 24)
EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale
Time frame: End of Period I (week 12) vs. End of Period 2 (week 24)
Scale for the Assessment and Rating of Ataxia (US only)
Time frame: End of Period I (week 12) vs. End of Period 2 (week 24)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2026.
- Results publication: PubMed 34387740Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13.
- Results publication: PubMed 33738443Kaya E, Smith DA, Smith C, Morris L, Bremova-Ertl T, Cortina-Borja M, Fineran P, Morten KJ, Poulton J, Boland B, Spencer J, Strupp M, Platt FM. Acetyl-leucine slows disease progression in lysosomal storage disorders. Brain Commun. 2020 Dec 20;3(1):fcaa148. doi: 10.1093/braincomms/fcaa148. eCollection 2021.
- Results publication: PubMed 30115089Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM. Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials. Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9.
- Derived from this study: PubMed 40739200Hendrickx N, Mentre F, Hamdan A, Karlsson MO, Hooker AC, Traschutz A, Gagnon C, Schule R, Synofzik M, Comets E; ARCA Study Group, EVIDENCE-RND consortium. Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA score. BMC Med Res Methodol. 2025 Jul 30;25(1):179. doi: 10.1186/s12874-025-02626-x.
- Derived from this study: PubMed 40513057Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolnikova M, Park J, Reichmannova S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T. Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. Neurology. 2025 Jul;105(1):e213589. doi: 10.1212/WNL.0000000000213589. Epub 2025 Jun 13.
- Derived from this study: PubMed 38294974Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannova S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151.
- Individual participant dataSharing planned: No. The results of the study will be published within a reasonable timeframe of completion. Pseudonymised individual patient data may be available in these findings.
Related trials for Niemann-Pick Disease, Type C
RecruitingObservational study
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Inherited Disease, Rare Diseases
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
Niemann-Pick Type C Disease
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Niemann-Pick Type C Disease, GM1 Gangliosidosis
RecruitingObservational study
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
14 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing N-Acetyl-L-Leucine in people with Niemann-Pick Disease, Type C, run by IntraBio Inc at 14 sites in 8 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 25 inclusion and 16 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in Germany, United Kingdom, United States, Australia, Czechia and 3 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Michael Strupp, MD (+44 8081 641283, mstrupp@intrabio.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Scale for the Assessment and Rating of Ataxia (all jurisdictions except US) (time frame: End of Period I (week 12) vs. End of Period 2 (week 24)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05163288, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2026.