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)
Not Applicable
Completed
- Conditions
- HIBM
- Registration Number
- NCT02196909
- Lead Sponsor
- Institut de Myologie, France
- Brief Summary
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 20
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.
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Primary Outcome Measures
Name Time Method Measure of changes in motor function and muscle strength assessment between 2 time points baseline, 1 year, 2 years, 3 years Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls) baseline, 1 year, 2 years, 3 years 24h urine and serum collection, measures at different time points baseline, 1 year, 2 years, 3 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Institute of Myology
🇫🇷Paris, France
Institute of Myology🇫🇷Paris, France