Multi-Center Study of ManNAc for GNE Myopathy

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.

Conditions

• GNE Myopathy

Interventions

DRUG

ManNAc

Oral N-acetyl-D-mannosamine monohydrate (ManNAc)

OTHER

Placebo

Placebo

Sponsors & Collaborators

• Brigham and Women's Hospital

  collaborator OTHER

• National Human Genome Research Institute (NHGRI)

  collaborator NIH

• National Institute of Neurological Disorders and Stroke (NINDS)

  collaborator NIH

• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

  collaborator NIH

• NIH (NIAMS and NIND) as part of NeuroNext

  collaborator UNKNOWN

• Leadiant Biosciences, Inc.

  lead INDUSTRY

Principal Investigators

• Anthony A. Amato, MD · Brigham and Women's Hospital

• Francis Rossignol, MD · National Institutes of Health (NIH)

Study Design

Allocation

RANDOMIZED

Purpose

TREATMENT

Masking

QUADRUPLE

Model

PARALLEL

Eligibility

Min Age

18 Years

Max Age

70 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2022-04-05

Primary Completion

2025-06-27

Completion

2025-10-30

FDA Drug

Yes

Countries

• United States

Study Locations