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)

The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.

Inclusion Criteria:

• Must be at least 18 years of age.
• Must be willing and able to provide consent.
• Must have a genetic diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
• Must be willing and able to comply with all study requirements.
• Affiliated to or a beneficiary of a social security category
• Must take part in the HIBM-PMP UX001-CL401 study

Exclusion Criteria:

• Received ManNAc therapy or other similar substance
• Any unrelated, comorbid disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
• Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia…) will be allowed to participate, but MRI will not be performed.
• Pregnant women.