drugset / Trial / NCT04231266
Multi-Center Study of ManNAc for GNE Myopathy
Phase 2
Active not recruiting
54 enrolled
Leadiant Biosciences, Inc.
Brigham and Women's Hospital · collabNIH (NIAMS and NIND) as part of NeuroNext · collabNational Human Genome Research Institute (NHGRI) · collabNational Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) · collabNational Institute of Neurological Disorders and Stroke (NINDS) · collab
RandomizedParallel-groupQuadruple-blindTreatment
Summary
GNE myopathy is a rare genetic muscle disease characterized by progressive muscle atrophy and weakness. The disease is caused by mutations in the gene that encodes the enzyme that initiates and regulates N-acetylneuraminic acid (Neu5Ac) biosynthesis and glycan sialylation. Currently, there is no therapy available for this disease. N-Acetylmannosamine (ManNAc), an orphan drug in development for GNE myopathy, is an uncharged monosaccharide and the first committed precursor in Neu5Ac biosynthesis. In this randomized, double-blind, placebo-controlled trial the efficacy and long-term safety of ManNAc will be evaluated in subjects with GNE myopathy.
Timeline
- Start
- 2022-04-05
- Primary completion
- 2025-06-27
- Completion
- 2025-10-30
Publications
- Background Quintana M, Shrader J, Slota C, Joe G, McKew JC, Fitzgerald M, Gahl WA, Berry S, Carrillo N. Bayesian model of disease progression in GNE myopathy. Stat Med. 2019 Apr 15;38(8):1459-1474. doi: 10.1002/sim.8050. Epub 2018 Dec 3.
- Background Carrillo N, Malicdan MC, Huizing M. GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges. Neurotherapeutics. 2018 Oct;15(4):900-914. doi: 10.1007/s13311-018-0671-y.
- Background Xu X, Wang AQ, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S, McKew JC, Gahl WA, Huizing M, Carrillo N. Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. Mol Genet Metab. 2017 Sep;122(1-2):126-134. doi: 10.1016/j.ymgme.2017.04.010. Epub 2017 Apr 26.
Drugs
| Evaluation | Drug | Modality | Dose | Route |
|---|---|---|---|---|
| Comparator | ManNAc | Small molecule | 4 g | Oral |