This study aims to assess the effects of dietary supplementation with creatine monophosphate on muscle strength and function, and body composition, in children with FSHD. The study will also assess the activities of daily living, mood and general well being of children with FSHD, as determined by patient- and parent-reported outcome measures. Safety data will also be collected throughout the study period. The study will assess the efficacy of creatine supplementation on improving muscle bulk and strength in children with FSHD, and will establish valuable baseline data on quality of life in paediatric FSHD. To the best of our knowledge, this will be the first therapeutic trial to be undertaken in paediatric FSHD.

PROGRESS REPORTS

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Update September 2019

Grant 36: Randomised Double-blind Placebo Controlled Crossover Trial to assess the effect of Creatine Monohydrate on the functional muscle strength and muscle mass in children with FSHD.

We have recruited 10 participants into this study to date. Brisbane are very close to starting up as a site, we are just finalising the governance for that site. We hope to be up and running in Brisbane in the next month with a view to recruit two more participants from there. I have been in contact with one family from New Zealand who are keen to participate. There may be another family from NZ as well. We have decided that we will close recruitment on the 31^st of December 2018 or at 15 participants, whichever comes first, to allow time for data analysis and writing up with a view to present the findings at World Muscle Society Meeting in 2020.

We have not performed any interim analysis as yet as I am not able to break the blind until recruitment is closed and all patients are through the active phase of the trial. As such I will likely not be able to review any efficacy data until mid-2020. However, we are currently analysing the baseline MRI data for each participant. I am hoping to write up and submit this for publication before the end of the year. Things are moving on, albeit slowly. I am, as ever, very appreciative of FSHD Global’s support and patience.

Update August 2018

Grant 36 Update: Researchers at The Royal Children’s Hospital are looking for children aged 5-18 years who have been diagnosed with FSHD, to participate in one or both of these studies. The Royal Children’s Hospital and researchers would be really interested in hearing from anyone in the FSHD community who meets the criteria.

WHO?
Researchers at The Royal Children’s Hospital are looking for children aged 5-18 years who have been diagnosed with FSHD, to participate in one or both of these studies:
1. The effect of the nutritional supplement (creatine monohydrate) on strength and muscle mass in children and young adults with FSHD
2. Investigating the use of FSHD specific patient reported and physical performance assessments to measure strength and function in children with FSHD

WHAT?
The creatine study involves 5 visits over an 8 month period and requires your child to drink a supplement in a glass of milk each day. We will assess strength and function to see if taking the supplement has any effect.
The assessment arm of the study requires two visits 2-4 weeks apart. These will be done in conjunction with the creatine study and will not require any extra time if you choose to participate in both research studies.
Recruitment of participants has begun at The Royal Children’s Hospital and researchers would be really interested in hearing from anyone in the FSHD community who meets the criteria.

WHO TO CONTACT?
If you would like more details about the research, please contact:
Katy de Valle
Neuromuscular Research Physiotherapist and FSHD Study Coordinator
The Royal Children’s Hospital
50 Flemington Rd, Parkville, Victoria, 3052
P. 03 9345 4287
E. katy.devalle@rch.org.au

HREC 36298 2 July 2018 version 1: Advertising promoting FSHD research projects

Update July 2017

FSHD is a clinically diverse condition and to date has not been widely studied in children.

We are pleased to announce that on 3rd July 2017 we received ethical approval to proceed with the first clinical trial in paediatric FSHD.  We are finalising governance approval at The Royal Children’s Hospital Melbourne, setting up at other sites and aim to start patient recruitment in August or September 2017.

As this is to be the first clinical trial worldwide in paediatric FSHD there are no specific validated outcome tools.  As such, we have carefully assessed and selected outcome measures to ensure best possible trial design.  We have chosen the Motor Function Measure in Neuromuscular Disease as our primary outcome measure to effectively capture changes in clinical condition.

We have also included several secondary outcome measures to assess the sensitivity of measures in this population for future clinical trials.  We aim to gather more information on response to treatment for these patients and obtain validation data for more specific adult FSHD outcome measures (FSH-COM and FSH-HI) for future use in the paediatric population.