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
Teresa Gidaro 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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