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CompletedNCT02196909ClinBio-GNEUpdated Aug 8, 2018

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)

An interventional study of motor function and strength assessment and NMR assessment in HIBM, sponsored by Institut de Myologie, France. Completed at 1 site in France. Open to participants aged 18 Years to 65 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2018-08-08.

Sponsored by Institut de Myologie, France · Not applicable, Interventional, and Basic science

Phase
Not applicable
Study type
Interventional
Enrollment
20
Allocation
Non-randomized
Ages
18 Years to 65 Years
Sex
All
01

Study summary

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

02

Conditions studied

  • HIBM

Keywords

  • HIBM
  • GNE
03

In context

Lead sponsor

Institut de Myologie, France is the lead sponsor of 29 studies on the registry; 5 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years to 65 Years
Sexes eligible
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

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.
05

Study design

Phase
Not applicable
Primary purpose
Basic science
Allocation
Non-randomized
Intervention model
Parallel assignment
Masking
None (open label)
Enrollment
20 participants (actual)

Study arms

  • 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

Interventions

  • Othermotor function and strength assessment
  • OtherNMR assessment
  • Other24h urine and serum collection
06

What researchers measure

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

07

Study locations

1 site
  • Institute of Myology
    Paris, 75013, France
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Aug 8, 2018, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT02196909
Lead sponsor
Institut de Myologie, France
Responsible party
Sponsor
First posted
Jul 22, 2014
Start date
Jul 2014
Primary completion
May 2018
Completion
May 2018
Last update
Aug 8, 2018

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Aug 2018. You cannot join it, but the record below documents what was studied.

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