Paediatric Facioscapulohumeral muscular dystrophy (FSHD) Longitudinal Outcome Study (iFSHD-LOS)
- Conditions
- facioscapulohumeral muscular dystrophyNeurological - Other neurological disordersMusculoskeletal - Other muscular and skeletal disorders
- Registration Number
- ACTRN12621001293853
- Lead Sponsor
- Murdoch Childrens Research Institute
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 30
Each participant must meet all the following criteria to be enrolled in this study:
•Is between the ages of 0 and 21 years.
•Has a confirmed genetic diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) type 1 or 2 or has a first degree relative with genetically confirmed FSHD and had clinical features in keeping with this diagnosis as determined by an expert in the field. (In Australia all genetic testing for FSHD occurs in one of three testing laboratories. If genetic testing for an individual participant was not carried out at one of these recognised laboratories, then that participants genetic results will be reviewed by the study investigators in consultation with a geneticist and a representative from the recognised testing laboratories. A decision will be made whether repeat testing at one of the recognised testing laboratories is required on a case by case basis.)
•Has a legally acceptable representative capable of understanding the informed consent document and providing consent on the participant’s behalf.
•An individual who, despite clinical signs and symptoms of FSHD, has negative or non-permissive genetic testing for FSHD.
•Participant unwilling to consent to their data being collected and analysed as part on an on-going longitudinal outcome measure study.
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method