Facio-Scapulo-Humeral Dystrophy, FSHD1, FSHD2
Conditions
Keywords
fshd, creatine monohydrate, children, pediatrics, Facio-Scapulo-Humeral Dystrophy
Brief summary
This multi-centre, randomised, double-blind, placebo-controlled crossover trial will compare changes in strength-related motor function following treatment with creatine monohydrate to treatment with placebo, as measured by the Motor Function Measure, from baseline to 12 weeks. Eligible subjects will undergo baseline assessments then will be randomised to either creatine monohydrate therapy or placebo for three months, followed by a six week wash-out period, then crossover to a further three months of therapy with either placebo or creatine. Subjects will undergo clinical assessments and study safety assessments at the beginning and end of each treatment period. The study will begin recruitment in early 2017.
Interventions
DIETARY_SUPPLEMENTCreatine Monohydrate
Synthetically produced dietary supplement Creatine Monohydrate will be used in powder form reconstituted to a drink. The dosage will be 100mg/kg/day up to a maximum of 10 grams daily.
DIETARY_SUPPLEMENTPlacebo
Placebo
Sponsors
Murdoch Childrens Research Institute
Study design
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
5 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
* Is between the ages of 5 and 18 years inclusive at the time of randomisation; * Has a confirmed genetic diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) types 1 or 2; * Has a legally acceptable representative capable of understanding the informed consent document and providing consent on the participant's behalf.
Exclusion criteria
* Has clinically significant elevation in plasma creatinine level or unexplained hypertension at screening; * Has a prior diagnosis of chronic renal failure; * Has a known hypersensitivity to creatine monohydrate of maltodextrin placebo; * Patients already taking any medications to increase muscle bulk or strength or concomitant use of regular sodium valproate, corticosteroids of alpha agonists such as salbutamol.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Motor Function Measure for Neuromuscular disease | 3 months | Composite functional outcome measure |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Muscle Ultrasound Scan | 3 months | — |
| Performance of the Upper Limb Measure | 3 months | — |
| ACTIVILIM | 3 Months | — |
| PedsQL Neuromuscular | 3 months | — |
| FSH-COM | 3 months | FSHD specific composite measure |
| FSH-Health Index (Pediatric Version) | 3 months | Patient reported outcome measure specific for patients with FSHD. |
| Muscle Magnetic Resonance Imaging | 3 months | — |
| FSHD Severity Score | 3 months | — |
| Quantitative muscle strength testing | 3 months | — |
| GPX3 Level | 3 months | Possible biomarker of disease severity in FSHD |
| Step Counter | 3 months | Physical activity measure |
| Laboratory safety monitoring | 3 months | bloods and urine safety testing (urea and electrolytes, urine plasma creatine:creatinine ratios) |
| Six Minute Walk Test | 3 months | — |
Countries
Australia
Outcome results
None listed