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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) (ClinBio-GNE)

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ClinicalTrials.gov Identifier: NCT02196909
Recruitment Status : Completed
First Posted : July 22, 2014
Last Update Posted : August 8, 2018
Sponsor:
Information provided by (Responsible Party):
Institut de Myologie, France

Study Description
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Brief Summary:
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.

Condition or disease Intervention/treatment Phase
HIBM Other: motor function and strength assessment Other: NMR assessment Other: 24h urine and serum collection Not Applicable

Study Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 20 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Actual Study Start Date : July 2014
Actual Primary Completion Date : May 2018
Actual Study Completion Date : May 2018

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Arms and Interventions
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Arm Intervention/treatment
Active Comparator: HIBM patient
motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
 Other: motor function and strength assessment
Other: NMR assessment
Other: 24h urine and serum collection
Active Comparator: Controls
motor function, muscle strength, 24h urine and serum collections at baseline only
 Other: motor function and strength assessment
Other: 24h urine and serum collection


Outcome Measures
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Primary Outcome Measures :
  1. Measure of changes in motor function and muscle strength assessment between 2 time points [ Time Frame: baseline, 1 year, 2 years, 3 years ]
  2. 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 ]
  3. 24h urine and serum collection, measures at different time points [ Time Frame: baseline, 1 year, 2 years, 3 years ]

Eligibility Criteria
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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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.
Contacts and Locations
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To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02196909


Locations
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France
Institute of Myology
Paris, France, 75013
Sponsors and Collaborators
Institut de Myologie, France
More Information
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Responsible Party: Institut de Myologie, France
ClinicalTrials.gov Identifier: NCT02196909    
Other Study ID Numbers: ClinBio-GNE
First Posted: July 22, 2014    Key Record Dates
Last Update Posted: August 8, 2018
Last Verified: August 2018
Keywords provided by Institut de Myologie, France:
HIBM
GNE