Paediatric Facioscapulohumeral muscular dystrophy (FSHD) Longitudinal Outcome Study (iFSHD-LOS)

Murdoch Childrens Research Institute0 个研究点目标入组 30 人开始时间: 2021年9月24日最近更新: 2022年9月26日

适应症

试验速览

暂无简介。

•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.

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