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

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

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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 |
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.

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
France | |
Institute of Myology | |
Paris, France, 75013 |
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 |
HIBM GNE |