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

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional



Official Title: A Phase 1 Randomized, Placebo-Controlled, Double-Blind, Escalating Single-Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With GNE Myopathy or Hereditary In

Brief Summary:

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 eithe