Skip to main content
OpenTrials
Completed

NCT Number: NCT02196909

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)

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

HIBM

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Institute of Myology

Paris, 75013, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

motor function and strength assessment

Other

NMR assessment

Other

24h urine and serum collection

Other

Primary outcomes

  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

Sponsors and collaborators

Lead sponsor

Institut de Myologie, France

Other

Registry information

Acronym: ClinBio-GNE

Important dates

Study start
2014
Primary completion
2018
Study completion
2018
First posted
Jul 22, 2014
Registry last updated
Aug 8, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.