CompletedNot Applicable

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)

France20 participantsStarted 2014-07

Plain-language summary

The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.

Who can participate

Age range

18 Years – 65 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Measure of changes in motor function and muscle strength assessment between 2 time points

Timeframe: baseline, 1 year, 2 years, 3 years

Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)

Timeframe: baseline, 1 year, 2 years, 3 years

24h urine and serum collection, measures at different time points

Timeframe: baseline, 1 year, 2 years, 3 years

Trial details

NCT IDNCT02196909

SponsorInstitut de Myologie, France

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2018-05

View on ClinicalTrials.gov More HIBM trials

Who can participate

Age range

18 Years – 65 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Measure of changes in motor function and muscle strength assessment between 2 time points

Timeframe: baseline, 1 year, 2 years, 3 years

Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)

Timeframe: baseline, 1 year, 2 years, 3 years

24h urine and serum collection, measures at different time points

Timeframe: baseline, 1 year, 2 years, 3 years