Status:
COMPLETED
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)
Lead Sponsor:
Institut de Myologie, France
Conditions:
HIBM
Eligibility:
All Genders
18-65 years
Phase:
NA
Brief Summary
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
July 1 2014
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
May 1 2018
Estimated Enrollment :
20 Patients enrolled
Trial Details
Trial ID
NCT02196909
Start Date
July 1 2014
End Date
May 1 2018
Last Update
August 8 2018
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Institute of Myology
Paris, France, 75013