RecruitingACTRN12621001293853

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

Sponsor

Murdoch Childrens Research Institute

Enrollment

30 participants

Start Date

Jan 25, 2022

Study Type

Observational

Conditions

facioscapulohumeral muscular dystrophy

Summary

The Paediatric Facioscapulohumeral muscular dystrophy (FSHD) Longitudinal Outcome Study (iFSHD-LOS) is designed to observe and record the natural disease progression of children and young adults aged 0-21 years diagnosed with FSHD (type 1 and type 2) through the collection of longitudinal data recording their medical, physical and psychological functioning. The study aims to: 1.Contribute to standards of care guidelines for children and young adults world-wide with FSHD. 2.Contribute to outcome measure and biomarker development to enhance clinical trial readiness. 3.Establish the cognitive and psychological profile of children and young adults with FSHD. 4.Develop a biobank of patient iPSCs to model disease and identify novel treatments in the future.

Eligibility

Sex: Both males and femalesMin Age: 0 YearssMax Age: 21 Yearss

Plain Language Summary

Simplified for easier understanding

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle condition that causes progressive weakness, most commonly starting in the face, shoulder blades, and upper arms, often beginning in childhood or adolescence. While FSHD has been well studied in adults, much less is known about how it progresses in children and young people, what its effects are on thinking and emotional wellbeing, and what outcomes matter most to families. This long-term study is following children and young adults aged 0–21 who have been confirmed to have FSHD. The study aims to build a detailed picture of how the disease progresses in younger people, identify useful outcome measures for future clinical trials, understand the psychological and cognitive experience of growing up with FSHD, and establish a collection of biological samples that could support future treatment research. Participants attend regular assessments measuring their physical function, strength, and wellbeing. Your child or young adult may be eligible if they are aged 0–21 and have a confirmed genetic diagnosis of FSHD type 1 or type 2, or have a first-degree relative with confirmed FSHD and show clinical features consistent with the condition. A legal guardian must be able to provide consent.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

The purpose of the study is to enhance the understanding of facioscapulohumeral dystrophy (FHSD) across development. Specifically, in children and young people with diagnosed FSHD: 1. Formalise clini

The purpose of the study is to enhance the understanding of facioscapulohumeral dystrophy (FHSD) across development. Specifically, in children and young people with diagnosed FSHD: 1. Formalise clinical evaluations for children and young adults with FSHD. 2. Collect natural history data including demographics, family history, genetics, medical history, functional measures (disease severity, physical function, strength) quality of life questionnaires, radiological measures (including muscle MRI and ultrasound) and psychological functioning. 3. Collect 2-5 years of natural history data looking for clinical change and to link functional and quality of life to changes seen on muscle MRI. 4. Establish the cognitive and psychological profile of children and young adults with FSHD. 5. Establish induced pluripotent stem cell lines for patients with FSHD from participant blood samples for disease modelling 6. Collect biomedical data from blood during the natural history period - Data will be collected both via in person assessments and retrospective data by accessing medical records, information from family and/or treating medical team. Retrospective data will include relevant past medical, surgical history and details of any relevant neurological, cardiac, respiratory, orthopaedic, ophthalmologic or auditory examinations in the past 2 years. - Study visits will occur every 12 months (over a two year period, which will be extended to 5 years if able to source additional funding). Medical, function, strength, quality of life assessment, muscle MRI and ultrasound imaging and blood testing will occur annually. Psychological testing will occur only once over the two year period. Testing, where possible will occur on the same day however participants may be required to return at a different occasion if, for example medical, imaging can not be organised on the same day. - Researchers hope to follow up all participants for the duration of the study. - Blood tests taken during this study will be taken for the purposes of: routine bloods (annually) and participants can provide optional consent to allow an additional 10 mls of blood to be collected at the same time and used for three purposes: 1. additional peripheral blood mononuclear cells (PBMCs) for biochemical analyses (RNA-sequencing, protein and immune profiling) annually, 2. GPX3 biomarker sensitive to disease staging to gain further data (annually) and 3. iPSC pluripotent stem cells (one off blood sample) immortalised cell lines for patient modelling (single occasion). - A Biobank housed at Murdoch Children's Research Institute will store the iPSCs and PBMC samples and the GPX3 sample will be sent overseas to Center for Genetic Medicine Research, Washington, USA.