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An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy

NCT02346461 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 12

Last updated 2019-04-16

Study results available
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Summary

Background:

Patients with GNE myopathy have progressive muscle weakness and can have difficulty walking and decreased mobility. The disease is a rare genetic disorder that results from a gene mutation in a key step in the body's production of a sugar called sialic acid, (also called N-acetylneuraminic acid, Neu5Ac). Researchers think decreased sialic acid bound to muscle proteins may be the cause of muscle wasting in GNE myopathy. Researchers are testing the drug ManNAc which is a precursor in the production of sialic acid within cells. ManNAc is provided as a powder dissolved in water to be administered orally.

Conditions

  • GNE Myopathy

Interventions

DRUG

ManNAc

At doses of 3 g and 6 g twice daily for a total dose of 6 and 12 g per day.

DRUG

ManNAc

At doses of 6 g twice daily (12 g per day).

Sponsors & Collaborators

  • National Center for Advancing Translational Sciences (NCATS)

    collaborator NIH

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Nuria Carrillo, M.D. · National Human Genome Research Institute (NHGRI)

Study Design

Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
60 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-02-05
Primary Completion
2017-12-30
Completion
2018-11-15
FDA Drug
Yes

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02346461 on ClinicalTrials.gov