ANZCTR - Registration

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Trial registered on ANZCTR

Registration number

ACTRN12621001293853

Ethics application status

Approved

Date submitted

10/08/2021

Date registered

24/09/2021

Date last updated

20/09/2022

Date data sharing statement initially provided

24/09/2021

Type of registration

Prospectively registered

Titles & IDs

Public title

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

Scientific title

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

Secondary ID [1]

nil known

Universal Trial Number (UTN)

U1111-1268-5598

Trial acronym

iFSHD-LOS

Linked study record

Health condition

Health condition(s) or problem(s) studied:

facioscapulohumeral muscular dystrophy

Condition category

Condition code

Neurological

Other neurological disorders

Musculoskeletal

Other muscular and skeletal disorders

Intervention/exposure

Study type

Observational

Patient registry

False

Target follow-up duration

Target follow-up type

Description of intervention(s) / exposure

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.

Intervention code [1]

Not applicable

Comparator / control treatment

No control group

Control group

Uncontrolled

Outcomes

Primary outcome [1]

FSHD-Composite Outcome Measure paediatric version (FSHD-COM Peds)

Timepoint [1]

annual assessment until study completion (between 2-5 years)

Secondary outcome [1]

Severity Scales (FSH Clinical Severity (CSS) ‘Ricci’ Scale

Timepoint [1]

annual assessment until study completion (between 2-5 years)

Secondary outcome [2]

Quantitative muscle strength testing (QMT) using hand-held myometry (HHM)

Timepoint [2]

annual assessments until study completion (between 2-5 years)

Secondary outcome [3]

Fat fraction analysis of muscle magnetic resonance images (mMRI) taken during the study (between 2-5 years)

Timepoint [3]

annual assessments over the duration of the study (between 2-5 years)

Secondary outcome [4]

FSHD Comprehensive Clinical Evaluation Form (CCEF)

Timepoint [4]

assessed annually until study completion (between 2-5 years)

Secondary outcome [5]

FSH Clinical (FCS) ‘Lamperti’ Score)

Timepoint [5]

assessed annually until study completion (between 2-5 years)

Secondary outcome [6]

Motor Function Measure-32 (MFM-32) for non-ambulant individuals

Timepoint [6]

annual assessments for the duration of the study (between 2-5 years)

Secondary outcome [7]

Performance of the Upper Limb (PUL) 2.0 high and mid level components

Timepoint [7]

annual assessments for the duration of the study (between 2-5 years)

Secondary outcome [8]

Upper Limb Endurance Measure (ULEM) and/or modified box and block shuttle test (ESBBT)

Timepoint [8]