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)
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 20
- Locations
- 1
- Primary Endpoint
- Measure of changes in motor function and muscle strength assessment between 2 time points
Study Overview
Brief Summary
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
Study Design
- Study Type
- Interventional
- Allocation
- Non Randomized
- Intervention Model
- Parallel
- Primary Purpose
- Basic Science
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to 65 Years (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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.
Arms & Interventions
Controls
motor function, muscle strength, 24h urine and serum collections at baseline only
Intervention: motor function and strength assessment (Other)
HIBM patient
motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
Intervention: NMR assessment (Other)
HIBM patient
motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
Intervention: 24h urine and serum collection (Other)
HIBM patient
motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
Intervention: motor function and strength assessment (Other)
Controls
motor function, muscle strength, 24h urine and serum collections at baseline only
Intervention: 24h urine and serum collection (Other)
Outcomes
Primary Outcomes
Measure of changes in motor function and muscle strength assessment between 2 time points
Time Frame: baseline, 1 year, 2 years, 3 years
Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)
Time Frame: baseline, 1 year, 2 years, 3 years
24h urine and serum collection, measures at different time points
Time Frame: baseline, 1 year, 2 years, 3 years
Secondary Outcomes
No secondary outcomes reported