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

Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized by multiple symptoms such as progressive cerebellar ataxia and cognitive decline. The modified amino acid N-acetyl-leucine has been associated with positive symptomatic and neuroprotecti...

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Bibliographic Details
Published in:	Current controlled trials in cardiovascular medicine Vol. 24; no. 1; p. 361
Main Authors:	Fields, T, M Bremova, T, Billington, I, Churchill, G C, Evans, W, Fields, C, Galione, A, Kay, R, Mathieson, T, Martakis, K, Patterson, M, Platt, F, Factor, M, Strupp, M
Format:	Journal Article
Language:	English
Published:	England BioMed Central Ltd 29-05-2023 BioMed Central BMC
Subjects:	Amino acids Ataxia Biomarkers Birth control Brain diseases Care and treatment Cerebellar ataxia Clinical trials Cross-Over Studies Diagnosis Disease Double-Blind Method Double-blind studies Drug dosages Females Genetic aspects Genetic disorders Health aspects Humans Informed consent Laboratories Leucine - therapeutic use Metabolic disorders N-acetyl-L-leucine Niemann-Pick disease Niemann-Pick Disease, Type C - diagnosis Niemann-Pick Disease, Type C - drug therapy Niemann-Pick Disease, Type C - genetics Niemann-Pick type C (NPC) Ovulation Patients Pediatrics Pharmaceutical intervention Quality of Life Randomized controlled trial Sexual intercourse Study Protocol Symptomatic treatment Testing Vasectomy Germany France United States > US Pharmaceutical intervention Cerebellar ataxia N-acetyl-L-leucine Symptomatic treatment Lysosomal storage disease Niemann-Pick type C (NPC) Randomized controlled trial
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Summary:	Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized by multiple symptoms such as progressive cerebellar ataxia and cognitive decline. The modified amino acid N-acetyl-leucine has been associated with positive symptomatic and neuroprotective, disease-modifying effects in various studies, including animal models of NPC, observational clinical case studies, and a multinational, rater-blinded phase IIb clinical trial. Here, we describe the development of a study protocol (Sponsor Code "IB1001-301") for the chronic treatment of symptoms in adult and pediatric patients with NPC. 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 consists of a 12-week treatment period. The primary efficacy endpoint is based on the Scale for the Assessment and Rating of Ataxia, and secondary outcomes include cerebellar functional rating scales, clinical global impression, and quality of life assessments. Pre-clinical as well as observational and phase IIb clinical trials have previously demonstrated that IB1001 rapidly improved symptoms, functioning, and quality of life for pediatric and adult NPC patients and is safe and well tolerated. In this placebo-controlled cross-over trial, the risk/benefit profile of IB1001 for NPC will be evaluated. It will also give information about the applicability of IB1001 as a therapeutic paradigm for other rare and common neurological disorders. The trial (IB1001-301) has been registered at www. gov (NCT05163288) and www.clinicaltrialsregister.eu (EudraCT: 2021-005356-10). Registered on 20 December 2021.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Undefined-3
ISSN:	1745-6215 1745-6215
DOI:	10.1186/s13063-023-07399-6