Effect of Creatine Monohydrate on Functional Muscle Strength in Children With FSHD

Study Overview
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Brief Summary
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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.

Official Title
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Effect of Creatine Monohydrate on Functional Muscle Strength and Muscle Mass in Children With FSHD: a Multi-centre, Randomised, Double-blind Placebo-controlled Crossover Trial

Conditions
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Facio-Scapulo-Humeral Dystrophy, FSHD2, FSHD1

Intervention / Treatment
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* Dietary Supplement: Creatine Monohydrate
* Dietary Supplement: Placebo


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 5 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Quadruple


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Active Comparator: Group A - Active/Placebo<br>Participants will receive 3 months of creatine monohydrate followed by a 6 week washout period followed by 3 months of placebo. | Dietary Supplement: Creatine Monohydrate<br>* 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.<br>Dietary Supplement: Placebo<br>* Placebo<br>|
| Active Comparator: Group B - Placebo/Active<br>Participants will receive 3 months of placebo followed by a 6 week washout period followed by 3 months of creatine monohydrate. | Dietary Supplement: Creatine Monohydrate<br>* 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.<br>Dietary Supplement: Placebo<br>* Placebo<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Motor Function Measure for Neuromuscular disease | Composite functional outcome measure | 3 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Muscle Magnetic Resonance Imaging |  | 3 months | 
| Muscle Ultrasound Scan |  | 3 months | 
| Performance of the Upper Limb Measure |  | 3 months | 
| ACTIVILIM |  | 3 Months | 
| PedsQL Neuromuscular |  | 3 months | 
| FSH-COM | FSHD specific composite measure | 3 months | 
| FSH-Health Index (Pediatric Version) | Patient reported outcome measure specific for patients with FSHD. | 3 months | 
| Six Minute Walk Test |  | 3 months | 
| FSHD Severity Score |  | 3 months | 
| Quantitative muscle strength testing |  | 3 months | 
| GPX3 Level | Possible biomarker of disease severity in FSHD | 3 months | 
| Step Counter | Physical activity measure | 3 months | 
| Laboratory safety monitoring | bloods and urine safety testing (urea and electrolytes, urine plasma creatine:creatinine ratios) | 3 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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fshd, creatine monohydrate, children, pediatrics, Facio-Scapulo-Humeral Dystrophy