HIBM
Conditions
Keywords
HIBM, GNE
Brief summary
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
Interventions
OTHERmotor function and strength assessment
OTHERNMR assessment
OTHER24h urine and serum collection
Sponsors
Institut de Myologie, France
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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 |
Countries
France
Outcome results
None listed