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)

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

Study Overview

• Status: Completed
• Conditions: HIBM
• Intervention / Treatment: Other: motor function and strength assessment; Other: NMR assessment; Other: 24h urine and serum collection

• Study Type: Interventional
• Enrollment (Actual): 20
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75013
    • Institute of Myology

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Basic Science
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Measure of changes in motor function and muscle strength assessment between 2 time points	baseline, 1 year, 2 years, 3 years
Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)	baseline, 1 year, 2 years, 3 years
24h urine and serum collection, measures at different time points	baseline, 1 year, 2 years, 3 years

Collaborators and Investigators

• Sponsor: Institut de Myologie, France

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2014
• Primary Completion (Actual): May 1, 2018
• Study Completion (Actual): May 1, 2018

Study Registration Dates

• First Submitted: April 8, 2014
• First Submitted That Met QC Criteria: July 18, 2014
• First Posted (Estimate): July 22, 2014

Study Record Updates

• Last Update Posted (Actual): August 8, 2018
• Last Update Submitted That Met QC Criteria: August 7, 2018
• Last Verified: August 1, 2018

More Information

Terms related to this study

• Keywords: HIBM; GNE
• Other Study ID Numbers: ClinBio-GNE