P031: A global phase 3 trial (IB1001-303) and an expanded access program of levacetylleucine in ataxia-telangiectasia

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Authors: Jorgji Kerthi, Kayla Vecera, Marc C. Patterson, Bethany Zanrucha, Janelle Raymond, Asante Hatcher, Taylor Fields, Ian Billington, Michael Strupp, Κyriakos Martakis, Κyriakos Martakis
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Abstract

Ataxia-Telangiectasia (A-T) is a rare, autosomal-recessive, fatal disorder resulting in progressive neurodegeneration, cerebellar ataxia, and multi-system involvement. There are currently no approved treatments. Levacetylleucine (also known as N-acetyl-L-leucine) is a modified acetylated amino acid that enters enzyme-controlled pathways to correct metabolic dysfunction, improve function of the lysosomal-mitochondrial axis, reduce inflammation, and enhance autophagy. Clinical studies of levacetylleucine in Niemann-Pick disease type C, GM2 gangliosidoses, and A-T have demonstrated that levacetylleucine significantly improves a broad range of cerebellar signs and symptoms.

Fields of Study & Subjects

Genetic Neurodegenerative Diseases Lysosomal Storage Disorders Research Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103522–103522
Publication date
1 January 2026
Language
EN