Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)

Completed · Phase 1 · Has a placebo group

Conditions studied: Hereditary Inclusion Body Myopathy (HIBM), GNE Myopathy

In brief

Background: \- Hereditary inclusion body myopathy (HIBM) is a genetic disorder caused by mutations in a gene called GNE. This gene is responsible for producing a sugar called sialic acid. Low levels of sialic acid may cause muscle problems. Symptoms of HIBM include walking difficulties and muscle weakness, which usually start in a person s 20s or 30s and become worse over time. Researchers are studying a drug called ManNAc. It may be useful for treating HIBM. However, this drug is still being tested. Researchers want to see how ManNAc is absorbed into and removed from the blood. They will not be looking specifically at whether ManNAc can stop or slow the symptoms of HIBM. Objectives: * \<TAB\>To study how MaNAc is absorbed into and removed from the blood in people with HIBM. * \<TAB\>To study of safety of ManNAc in people with HIBM. Eligibility: \- Individuals between 18 and 70 years of age who have HIBM. Design: * Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. * Participants will have a 3 to 4-day inpatient stay for the main part of the study. * Participants will be divided into groups of six. In each group, four will take ManNAc and two will take a placebo. Participants will not know which one they will receive. * Participants will have a single dose of either ManNAc or placebo. They will be monitored for any possible side effects. Frequent blood samples will be collected during the 4-day stay. * No treatment for HIBM will be provided as part of this study.

Key facts

Study ID
NCT01634750
Run by
National Human Genome Research Institute (NHGRI)
People needed
26
Starts
2012-09-11
Expected to finish
2013-05-29
Last updated by the study team
2017-10-19

Who can join

Age: 18 and older, up to 70. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

Where it is running

Full record on ClinicalTrials.gov

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