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)

Institut de Myologie, France

Status: Completed

Conditions: HIBM

Treatments: Other: NMR assessment; Other: motor function and strength assessment; Other: 24h urine and serum collection

Study type: Interventional

Funder types: Other

Identifiers

NCT02196909

ClinBio-GNE

Details and patient eligibility

About

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

Enrollment: 20 patients

Sex: All

Ages: 18 to 65 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

---

20 participants in 2 patient groups

HIBM patient

Active Comparator group

Description:

motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually

Treatment:

Other: motor function and strength assessment

Other: NMR assessment

Other: 24h urine and serum collection

Controls

Active Comparator group

Description:

motor function, muscle strength, 24h urine and serum collections at baseline only

Treatment:

Other: motor function and strength assessment

Other: 24h urine and serum collection