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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] 304037 0
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 323178 0
Condition category
Condition code
Neurological 320760 320760 0 0
Other neurological disorders
Musculoskeletal 321043 321043 0 0
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] 321402 0
Not applicable
Comparator / control treatment
No control group
Control group
Uncontrolled

Outcomes
Primary outcome [1] 328570 0
FSHD-Composite Outcome Measure paediatric version (FSHD-COM Peds)
Timepoint [1] 328570 0
annual assessment until study completion (between 2-5 years)
Secondary outcome [1] 399472 0
Severity Scales (FSH Clinical Severity (CSS) ‘Ricci’ Scale
Timepoint [1] 399472 0
annual assessment until study completion (between 2-5 years)
Secondary outcome [2] 399474 0
Quantitative muscle strength testing (QMT) using hand-held myometry (HHM)
Timepoint [2] 399474 0
annual assessments until study completion (between 2-5 years)
Secondary outcome [3] 399475 0
Fat fraction analysis of muscle magnetic resonance images (mMRI) taken during the study (between 2-5 years)
Timepoint [3] 399475 0
annual assessments over the duration of the study (between 2-5 years)
Secondary outcome [4] 399483 0
FSHD Comprehensive Clinical Evaluation Form (CCEF)
Timepoint [4] 399483 0
assessed annually until study completion (between 2-5 years)
Secondary outcome [5] 400523 0
FSH Clinical (FCS) ‘Lamperti’ Score)
Timepoint [5] 400523 0
assessed annually until study completion (between 2-5 years)
Secondary outcome [6] 400524 0
Motor Function Measure-32 (MFM-32) for non-ambulant individuals
Timepoint [6] 400524 0
annual assessments for the duration of the study (between 2-5 years)
Secondary outcome [7] 400525 0
Performance of the Upper Limb (PUL) 2.0 high and mid level components
Timepoint [7] 400525 0
annual assessments for the duration of the study (between 2-5 years)
Secondary outcome [8] 400526 0
Upper Limb Endurance Measure (ULEM) and/or modified box and block shuttle test (ESBBT)
Timepoint [8] 400526 0
annual assessment for the duration of the study (between 2-5 years)
Secondary outcome [9] 400527 0
FSHD-Health Index (FSHD-HI Peds and adult)
Timepoint [9] 400527 0
annual assessment for the duration of the study (between 2-5 years)
Secondary outcome [10] 400528 0
Neuro QoL-SF pain
Timepoint [10] 400528 0
annual assessment for the duration of the study (between 2-5 years)
Secondary outcome [11] 400529 0
Neuro QoL-SF fatigue
Timepoint [11] 400529 0
annual assessment for the duration of the study (between 2-5 years)
Secondary outcome [12] 400530 0
PROMIS Physical Activity
Timepoint [12] 400530 0
annual assessment for the duration of the study (between 2-5 years)
Secondary outcome [13] 400564 0
Endurance shuttle box and block test
Timepoint [13] 400564 0
annual assessment for the duration of the study (between 2-5 years)
Secondary outcome [14] 400565 0
Strengths and Difficulties behavioral screening questionnaire
Timepoint [14] 400565 0
annual assessment for the duration of the study (between 2-5 years)
Secondary outcome [15] 400566 0
Child Behaviour Check List
Timepoint [15] 400566 0
annual assessment for the duration of the study (between 2-5 years)

Eligibility
Key inclusion criteria
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.
Minimum age
0 Years
Maximum age
21 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
• 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
Purpose
Natural history
Duration
Longitudinal
Selection
Defined population
Timing
Both
Statistical methods / analysis
- descriptive statistics will be used to describe disease progression

- correlations will be used to evaluate relationships between outcome measures and disease symptoms, progression

Recruitment
Recruitment status
Recruiting
Date of first participant enrolment
Anticipated
1/11/2021
Actual
25/01/2022
Date of last participant enrolment
Anticipated
2/01/2023
Actual
Date of last data collection
Anticipated
3/01/2028
Actual
Sample size
Target
30
Accrual to date
15
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 20182 0
The Royal Childrens Hospital - Parkville
Recruitment postcode(s) [1] 34912 0
3052 - Parkville

Funding & Sponsors
Funding source category [1] 308420 0
Charities/Societies/Foundations
Name [1] 308420 0
FSHD Society
Country [1] 308420 0
United States of America
Primary sponsor type
Other Collaborative groups
Name
Murdoch Childrens Research Institute
Address
50 Flemington Road
Parkville
Victoria 3052
Country
Australia
Secondary sponsor category [1] 310363 0
Hospital
Name [1] 310363 0
The Royal Children's Hospital
Address [1] 310363 0
50 Flemington Road
Parkville
Victoria 3052
Country [1] 310363 0
Australia

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 308381 0
The Royal Children's Hospital
Ethics committee address [1] 308381 0
Ethics committee country [1] 308381 0
Australia
Date submitted for ethics approval [1] 308381 0
10/08/2021
Approval date [1] 308381 0
25/01/2022
Ethics approval number [1] 308381 0
HREC/76964/RCHM-2021

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 110514 0
Mrs Katy de Valle
Address 110514 0
The Royal Children's Hospital
3 west clinical offices, Neurology Department
50 Flemington Road
Parkville
Victoria 3052
Country 110514 0
Australia
Phone 110514 0
+61 3 9345 4287
Fax 110514 0
Email 110514 0
[email protected]
Contact person for public queries
Name 110515 0
Katy de Valle
Address 110515 0
The Royal Children's Hospital
3 west clinical offices, Neurology Department
50 Flemington Road
Parkville
Victoria 3052
Country 110515 0
Australia
Phone 110515 0
+61 3 9345 4287
Fax 110515 0
Email 110515 0
[email protected]
Contact person for scientific queries
Name 110516 0
Ian Woodcock
Address 110516 0
The Royal Children's Hospital
3 west clinical offices, Neurology Department
50 Flemington Road
Parkville
Victoria 3052
Country 110516 0
Australia
Phone 110516 0
+61 3 9345 5661
Fax 110516 0
Email 110516 0
[email protected]

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Yes
What data in particular will be shared?
de-identified data characterizing the sample's demographics, genetics, motor function and disease severity
When will data be available (start and end dates)?
anticipated start date for this project late 2021. We anticipate that some preliminary data will be available early 2024. No end date
Available to whom?
Researchers on request
Available for what types of analyses?
Comparison
How or where can data be obtained?
Written request to [email protected]


What supporting documents are/will be available?

Doc. No.TypeCitationLinkEmailOther DetailsAttachment
12817Study protocol  [email protected] please contact Katy de Valle to request a copy of ... [More Details]



Results publications and other study-related documents

Documents added manually
No documents have been uploaded by study researchers.

Documents added automatically
No additional documents have been identified.