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
- Interventions
- Other: motor function and strength assessmentOther: 24h urine and serum collectionOther: NMR assessment
- 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
- Arm && Interventions
Group Intervention Description Controls 24h urine and serum collection motor function, muscle strength, 24h urine and serum collections at baseline only HIBM patient motor function and strength assessment motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually Controls motor function and strength assessment motor function, muscle strength, 24h urine and serum collections at baseline only HIBM patient NMR assessment motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually HIBM patient 24h urine and serum collection motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
- 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