Hereditary Inclusion Body Myopathy

GNE myopathy, also known as distal myopathy with rimmed vacuoles (DMRV), hereditary inclusion body myopathy (hIBM), quadriceps-sparing myopathy or Nonaka myopathy, is a clinicopathologically distinct distal myopathy with autosomal-recessive mode of inheritance.

 

Clinical trials on hereditary inclusion body myopathy ongoing at the Institute:

  • ClinBio-GNE: Clinical, biological and NMR outcome measures study for hereditary inclusion body myopathy due to mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE)
  • HIBM-PMP: Hereditary Inclusion Body Myopathy-Patient Monitoring Program (HIBM-PMP): A Registry and Prospective Natural History Study to Assess HIBM Disease
  • HIBM-Phase III: A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients with GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)

 

Acronym

ClinBio-GNE

HIBM-PMP

HIBM-Phase III

Study Type RBM-HPS RBM-HPS  BMR
Trial type
Single-centre trial
Multicentre trial  International multicentre trial
Intervention
 SA-ER / placebo
Principal investigators
Anthony Behin  Anthony Behin
Sponsor AIM Ultragenyx  Ultragenyx
Fundings AIM Ultragenyx  Ultragenyx
Study status Ongoing Ongoing  Ongoing
Recruitment status Closed Ongoing  Closed
Population Adult Adult  Adult
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