Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy 1, Facioscapulohumeral Muscular Dystrophy 2, Facioscapulohumeral Muscular Dystrophy (FSHD), FSH, FSHD, FSHD1, FSHD2, FSHD - Facioscapulohumeral Muscular Dystrophy, FSH Muscular Dystrophy, Muscular Dystrophy, Facioscapulohumeral
Conditions
Keywords
FSHD, Registry, FSH Muscular Dystrophy, FSHD1, FSHD2, Facioscapulohumeral dystrophy, facioscapulohumeral muscular dystrophy
Brief summary
BetterLife FSHD is a registry platform built to support people living with FSHD. It connects patients with personalized resources, tools, and research opportunities that match their health experiences and needs. At the same time, BetterLife collects secure health and experience data from patients to support research. This data is shared with researchers to help better understand FSHD and work toward improved care, treatments, and outcomes for the community. Learn more and enroll at: www.BetterLifeFSHD.org
Detailed description
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that causes relentless weakening of skeletal muscles. BetterLife FSHD is a patient-driven health platform and research registry that aims to help FSHD patients live their best lives while also powering research. In BetterLife, participants are prompted to respond to a series of short surveys spread out over a quarterly and yearly basis. Survey topics include demographics, health history, FSHD diagnosis and progression, FSHD management strategies, and quality of life domains like pain, fatigue, and mental health. As participants provide survey data, they receive a personalized feed of resources relevant to them from the FSHD Society's library of articles, blogs, videos, and webinars. Survey data is also used to inform participants which clinical trials and other research studies they may be eligible for. The information that BetterLife FSHD collects is stored and managed in a modern and secure real-world data infrastructure. De-identified data is made available upon request to researchers, clinicians, biopharmaceutical companies, regulator/payor bodies, and other organizations involved in FSHD research and therapeutic development with approval from a steering committee. BetterLife can also be used to conduct and support research initiatives external to the FSHD Society.
Interventions
OTHERObservational
Observational study
Sponsors
FSHD Society
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Individuals with a clinical or genetic diagnosis of FSHD, or individuals with a family history of FSHD who are showing symptoms * Age 1 year or older * Residing in the United States or its territories * If age 18 or older, individual must be able and willing to provide consent * If under age 18, individual must be able and willing to provide assent, when applicable, and have a parent or legal guardian register and provide consent
Exclusion criteria
* Individuals residing outside the United States or its territories * Unable or unwilling to provide consent, or assent, when applicable
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Longitudinal Health Data | Assessed annually from enrollment until study completion (10 years) | Survey questions to capture information on demographics, health history, FSHD diagnosis (clinical diagnosis, genetic testing, family history, etc.), and FSHD symptom management (e.g., use of assistive devices, ventilation, surgery). |
| Self Reported FSHD Progression | Assessed every 6 months, until study completion (10 years) | Survey questions that cover muscle weakness, symptom onset, and key progression milestones, and which can be used to estimate FSHD Clinical Score (FCS) . A higher score indicates more disease severity. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Anxiety Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses frequency and impact of anxiety symptoms using a 5-point rating system. Higher scores indicate more anxiety. |
| Depression Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses frequency and impact of depression symptoms using a 5-point rating system. Higher scores indicate more depression. |
| Pain Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses the quality of pain and interference with daily life using a 5-point rating system. Higher scores indicate higher levels of pain and interference. |
| Sleep Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses the quality of sleep using a 5-point rating system. Higher scores indicate poor sleep quality. |
| Fatigue Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses the presence and severity of fatigue using a 5-point rating system. Higher scores indicate more fatigue. |
| Upper Body Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses the ability to perform activities of daily living with the upper body using a 5-point rating system. Higher scores indicate less difficulty completing tasks using the upper body. |
| Mobility Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses the ability to perform activities with the lower body (i.e., standing up, sitting) using a 5-point rating system. Higher scores indicate less difficulty using the lower body. |
| Physical Activity Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses the amount of time spent engaged in physical activity in minutes. Higher scores indicate greater levels of physical activity. |
| Falls Patient Reported Outcome Measure | Quarterly, until study completion (10 years) | Assesses fear of falling during daily activities using a 4-point scale. Higher scores indicate a greater fear of falling. |
| Research Preferences | Yearly until study completion (10 years) | Survey questions where participants rank their willingness to participate in various research procedures, concerns about participating in research trials, and preferences for remote/in-person/hybrid study visits. |
| Diagnostic Journey | One time at Baseline | Survey questions to describe participant experience and barriers getting diagnosed with FSHD. |
| Healthcare Experiences | Yearly, until study completion (10 years) | Survey questions to describe healthcare utilization and experiences navigating healthcare settings. |
| Women's Health | Yearly, until study completion (10 years) | Survey questions about history of menstruation and pregnancy. |
| Social Determinants of Health | Yearly, until study completion (10 years) | Survey questions about current employment status/job security, neighborhood, religious practices, discrimination, and food security. |
Countries
United States
Contacts
CONTACTKayleigh Worek, MS
PRINCIPAL_INVESTIGATORAmanda Hill, MBA
FSHD Society
Outcome results
None listed