Healthy volunteers. Later the protocol will be applied to Facioscapular humeral dystrophy and/or other muscular dystrophies in general. MedDRA version: 8.1 Level: LLT Classification code 10011328 Term: Creatine
Conditions
Interventions
Product Name: creatine-13C
Product Code: Cr13C
Pharmaceutical Form: Powder for oral solution
Pharmaceutical form of the placebo: Powder for oral solution
Route of administration of the placebo: Oral u
Sponsors
Radboud University Nijmegen Medical Center
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: FSHD patients: clinically affected patients with a genetically confirmed diagnosis, moderate severity of the disease, informed consent. Heatlhy volunteers: informed consent Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: All subjects: kidney or liverproblems (present or past), diabetes, wheelchair bound. MR contra-indication: pacemaker, cerebral clips, metal splinters, neuro stimulator, cardiac arythmias, epilepsy, severe claustrofobia, pregnancy. Healthy volunteers: skeletal muscle problems or disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Secondary Objective: Normal values for metabolites detectable with 1H and 31P MRS will be determined in healthy volunteers, as well as their reproducibility.;Primary end point(s): MR measurement: feeling of strong discomfort due to claustrofobia or other reasons, unwillingness to pursue the measurement. Creatine supplementation protocol: any of the very rare side effects of creatine supplementation (muscle cramps or strains, gastrointestinal distress).;Main Objective: The goal of the present study is to determine if magnetic resonance spectra of different skeletal muscles in FSH patients show abnormalities. These metabolite values can be used as a biomarker for the severity of the disease in specific skeletal muscles and possbily in the future for the evaluation of therapies. Furthermore, creatine uptake and turnover will be studied in different skeletal muscles of healthy volunteers. The values for uptake and turnover of creatine in healthy volunteers can provide a basis for a comparable study in FSH patients, to determine if creatine supplementation would be a tentative therapy. | — |
Countries
Netherlands
Outcome results
None listed