Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
Tatiana Bremova-Ertl, Jens Claassen, Tomas Foltan...
https://pubmed.ncbi.nlm.nih.gov/34387740Actively Recruiting
Phase 3
Age: 4Years +
All Genders
ID05163288
Effects of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C: A Phase III Randomized Placebo-Controlled Double-Blind Crossover Study
Led by IntraBio Inc · Updated on 2026-04-03
53
Participants Needed
14
Research Sites
24 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating the safety, tolerability, and effectiveness of N-acetyl-L-leucine (IB1001) compared to standard care for patients aged 4 years and older diagnosed with Niemann-Pick disease type C (NPC). This is a pivotal, randomized, double-blind, placebo-controlled, multi-center study designed to provide important information on this treatment's impact on NPC symptoms. The study includes a crossover design where participants receive both the study drug and placebo during separate periods. Participants will take N-acetyl-L-leucine or a placebo orally as granules suspended in water, orange juice, or almond milk. Patients aged 13 and older will receive a total daily dose of 4 grams divided into three doses, while those under 13 will receive weight-based dosing. The study consists of a baseline period followed by two treatment periods of about 12 weeks each, where participants switch from one treatment to the other. After completing the parent study, some patients may join an open-label extension phase providing up to three years of treatment. During the trial, participants will undergo assessments at several points, including before and after each treatment period. These include scales measuring ataxia severity, functional ability, disability, clinical global impressions from physicians, caregivers, and patients, and quality of life questionnaires. Researchers will monitor adherence and safety throughout the study. The trial continues until December 2030, with careful evaluation of the primary outcomes after each treatment phase and ongoing follow-up for those in the extension phase.
CONDITIONS
Brief Title
A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
Who Can Participate
Age: 4Years +
All Genders
Eligibility Criteria
You may qualify if you...
- Written informed consent signed by the patient or their legal representative/parent/impartial witness
- Male or female aged 4 years or older with confirmed genetic diagnosis of Niemann-Pick disease type C at consent
- Females of childbearing potential must be sexually inactive or use highly effective contraception before and during the study
- Females of non-childbearing potential must have undergone sterilization procedures or be postmenopausal as confirmed by lab tests
- Non-vasectomized males must agree to use condoms with spermicide or abstain from sex during the study; vasectomized males have specific condom use requirements
- Male participants agree not to donate sperm from first dose until 90 days after last dose
- SARA score between 7 and 34 points and either gait subtest score within 2-7 or able to perform 9-Hole Peg Test within 20 to 150 seconds
- Weight at least 15 kg at screening
- Willingness to disclose existing NPC medications/therapies and maintain stable doses throughout study
- Understanding of study participation implications and willingness to comply with visits and instructions
You will not qualify if you...
- Known hypersensitivity to Acetyl-Leucine or ingredients in study drug or placebo sachets
- Participation in another clinical study with investigational drugs within 42 days prior to baseline
- Physical, cognitive, or psychiatric conditions that may risk patient safety or interfere with study assessments
- Known or persistent misuse or dependency on medication, drugs, or alcohol
- Current or planned pregnancy or breastfeeding
- Severe vision or hearing impairment not corrected by aids that interferes with assessments
- Diagnosed arthritis or musculoskeletal disorders affecting mobility and ability to perform assessments
- Use of prohibited medications within 42 days prior to baseline and throughout study (e.g., N-Acetyl-DL-Leucine not provided by study, Sulfasalazine, Rosuvastatin)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Baseline Period
Duration - Approximately 2 weeks
Participants undergo baseline assessments before starting treatment.
2 visits during the baseline period
Treatment
Duration - Approximately 12 weeks
Participants receive either N-Acetyl-L-Leucine or placebo for approximately 12 weeks during the first intervention period.
2 visits during this treatment period
Treatment
Duration - Approximately 12 weeks
Participants crossover to receive the opposite treatment (N-Acetyl-L-Leucine or placebo) for approximately 12 weeks during the second intervention period.
2 visits during this treatment period
Extension Phase
Duration - Duration not specified
Participants who complete the main study may have the opportunity to continue receiving N-Acetyl-L-Leucine in an extension phase.
Visit schedule varies in the extension phase
Trial Site Locations
Total: 14 locations
1
Mayo Clinic
Rochester, Minnesota, United States, 55905
Completed
2
The Royal Melbourne Hospital
Parkville, Victoria, Australia, 3050
Active, Not Recruiting
3
First Faculty of Medicine, Charles University Hospital Prague
Prague, Czechia, 128 08
Active, Not Recruiting
4
University of Giessen
Giessen, Germany, 35389
Active, Not Recruiting
5
University of Hamburg
Hamburg, Germany, 20246
Completed
6
SphinCS - Institute of Clinical Science in Lysosomal Storage Disorders
Höchheim, Germany, 65239
Active, Not Recruiting
7
Ludwig Maximilian University of Munich
München, Germany, 80539
Not Yet Recruiting
8
University Hospital Münster
Münster, Germany, 48149
Active, Not Recruiting
9
Amsterdam UMC
Amsterdam, Netherlands, 1105
Actively Recruiting
10
Comenius University in Bratislva
Bratislava, Slovakia, 833 40
Active, Not Recruiting
11
University Hospital Bern Inselspital
Bern, Switzerland, 3010
Active, Not Recruiting
12
Great Ormond Street Hospital
London, United Kingdom, WC1N 3JH
Active, Not Recruiting
13
Royal Free London NHS Foundation Trust
London, United Kingdom
Active, Not Recruiting
14
Royal Manchester Children's Hospital
Manchester, United Kingdom, M13 9WL
Active, Not Recruiting
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Research Team
M
Michael Strupp, MD
T
Taylor Fields
How is the study designed?
Study Type
INTERVENTIONAL
Masking
QUADRUPLE
Allocation
RANDOMIZED
Model
CROSSOVER
Primary Purpose
TREATMENT
Number of Arms
2
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Published Research Related To This Trial
Acetyl-leucine slows disease progression in lysosomal storage disorders.
Ecem Kaya, David A Smith, Claire Smith...
https://pubmed.ncbi.nlm.nih.gov/33738443Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Mario Cortina-Borja, Danielle Te Vruchte, Eugen Mengel...
https://pubmed.ncbi.nlm.nih.gov/30115089Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Marc C Patterson, Uma Ramaswami, Aimee Donald...
https://pubmed.ncbi.nlm.nih.gov/40513057Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Tatiana Bremova-Ertl, Uma Ramaswami, Marion Brands...
https://pubmed.ncbi.nlm.nih.gov/38294974