What is N-Acetyl-L-Leucine studying for Niemann-Pick disease type C?

N-Acetyl-L-Leucine is being studied to evaluate its safety and effects on symptoms of Niemann-Pick disease type C. This trial, sponsored by IntraBio Inc, compares this treatment to a placebo to better understand its potential role in managing this condition. Participants will help researchers learn more about how the drug may impact disease progression and quality of life.

Who may be eligible for this Niemann-Pick disease type C clinical trial?

Patients aged 4 years or older with a confirmed diagnosis of Niemann-Pick disease type C may be eligible. Both males and females can participate, with specific requirements regarding pregnancy and contraception for females of childbearing potential. Participants must meet certain health and mobility criteria and agree to stable medication use. Please review eligibility criteria for more details.

Is there any cost to participate in this Niemann-Pick disease type C clinical trial?

Study-related care, including the study drug or placebo and all trial visits, is provided at no cost. However, personal travel expenses and other costs related to attending visits may vary and are not guaranteed to be covered. Participants should consider these factors when deciding to join the trial.

Actively Recruiting

Phase 3

Age: 4Years +

All Genders

ID05163288

Phase III Study of N-Acetyl-L-Leucine Treatment for Niemann-Pick Disease Type C in Patients Aged 4 and Older

Led by IntraBio Inc · Updated on 2026-04-03

Participants Needed

Research Sites

24 weeks

Total Duration

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 treatments 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)

Research Team

Michael Strupp, MD

Taylor Fields

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