N-Acetyl-L-Leucine for Niemann-Pick Disease Type C

Recruiting at 15 trial locations

Overseen By Michael Strupp, MD

Age: Any Age

Sex: Any

Trial Phase: Phase 3

Sponsor: IntraBio Inc

Must not be taking: N-Acetyl-DL-Leucine, Sulfasalazine

Disqualifiers: Hypersensitivity, Pregnancy, Severe vision impairment, others

Pivotal Trial (Near Approval) This treatment is in the last trial phase before FDA approval

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: 6

53 Participants Needed

Trial Summary

What is the purpose of this trial?

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.

Will I have to stop taking my current medications?

The trial requires that you stop taking certain medications, like N-Acetyl-DL-Leucine, N-Acetyl-L-Leucine (unless provided in the trial), Sulfasalazine, and Rosuvastatin, for at least 42 days before starting the study and throughout its duration. However, you can continue other medications for Niemann-Pick Disease Type C if they have been stable for at least 42 days before the trial and remain unchanged during the study.

What data supports the effectiveness of the drug N-Acetyl-L-Leucine for Niemann-Pick Disease Type C?

Research shows that N-Acetyl-L-Leucine has positive effects on symptoms and slows disease progression in Niemann-Pick Disease Type C, as seen in clinical trials and studies with animal models. It has been associated with improvements in symptoms like ataxia (loss of control of body movements) and has shown neuroprotective effects, which means it helps protect nerve cells from damage. ^{1 2 3 4 5}

Is N-Acetyl-L-Leucine safe for humans?

N-Acetyl-L-Leucine has been studied in clinical trials for Niemann-Pick disease type C and other rare neurodegenerative disorders, showing positive effects on symptoms and disease progression. These studies suggest it is generally safe for human use, as it has been tested in both adults and children with these conditions. ^{1 2 3 4 5}

How is the drug N-Acetyl-L-Leucine different from other treatments for Niemann-Pick Disease Type C?

N-Acetyl-L-Leucine is unique because it is a modified amino acid that has shown neuroprotective effects and can slow disease progression in Niemann-Pick Disease Type C, unlike other treatments that may not address the underlying disease mechanisms. It has been associated with improvements in symptoms like ataxia (loss of control of body movements) and cognitive decline, and it is being evaluated in clinical trials for its potential to stabilize or improve neurological functions. ^{1 2 3 4 5}

Eligibility Criteria

This trial is for individuals aged 4 and older with a confirmed genetic diagnosis of Niemann-Pick disease type C. Participants must weigh at least 15 kg, have stable medication doses, and not be pregnant or breastfeeding. Men must agree to use contraception, and women who can bear children must either abstain from sex or use effective birth control.

Inclusion Criteria

I am 4 years or older and have a confirmed genetic diagnosis of NPC.

Written informed consent signed by the patient and/or their legal representative/parent/impartial witness

I agree to share my current NPC symptom treatments and keep doses consistent.

Exclusion Criteria

I have not been in a drug study within the last 42 days.

I do not have any health conditions that could risk my safety or affect the study's results.

I can avoid certain medications for 42 days before my first visit and until my sixth visit.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2 weeks

Baseline

Baseline assessments conducted before randomization

2 weeks

2 visits (in-person)

Treatment Period I

Participants receive either IB1001 or Placebo for 12 weeks

12 weeks

2 visits (in-person)

Treatment Period II

Participants crossover to receive the opposite treatment for 12 weeks

12 weeks

2 visits (in-person)

Extension Phase

Participants may opt into continuation of treatment with IB1001

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Treatment Details

Interventions

• N-Acetyl-L-Leucine

Trial Overview The study tests the safety and effectiveness of N-Acetyl-L-Leucine (IB1001) compared to a placebo in treating Niemann-Pick disease type C. It's randomized, meaning participants are randomly assigned to receive either the drug or placebo without choosing which one.

Participant Groups

Group I: N-acetyl-L-leucine (IB1001) Experimental Treatment 1 Intervention

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.

Group II: Placebo comparator Placebo Group 1 Intervention

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.

Who Is Running the Clinical Trial?

IntraBio Inc

Lead Sponsor

Trials

5

Recruited

220+

Findings from Research

The innovative master protocol and primary outcome assessment for N-acetyl-L-leucine (IB1001) are designed to address the unique challenges of treating ultra-rare neurodegenerative disorders, involving three multinational phase II trials for Niemann-Pick disease type C, GM2 gangliosidoses, and ataxia telangiectasia.

The novel Clinical Impression of Change in Severity (CI-CS) assessment allows for a personalized evaluation of treatment effects, capturing meaningful clinical changes in patients' functional performance, which is crucial for understanding the efficacy of N-acetyl-L-leucine in these rare diseases.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Fields, T., Patterson, M., Bremova-Ertl, T., et al.[2021]

References

1. Germany pubmed.ncbi.nlm.nih.gov

Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. [2022]

2. United States pubmed.ncbi.nlm.nih.gov

Acetyl-dl-leucine in Niemann-Pick type C: A case series. [2017]

3. England pubmed.ncbi.nlm.nih.gov

Acetyl-leucine slows disease progression in lysosomal storage disorders. [2022]

4. England pubmed.ncbi.nlm.nih.gov

N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study. [2023]

5. England pubmed.ncbi.nlm.nih.gov

A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. [2021]