BetterLife FSHD: A Patient-driven Health and Research Platform

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

Study Overview

• Status: Recruiting
• Conditions: Facioscapulohumeral Muscular Dystrophy; Muscular Dystrophy, Facioscapulohumeral; FSHD; Facioscapulohumeral Muscular Dystrophy (FSHD); FSHD - Facioscapulohumeral Muscular Dystrophy; Facioscapulohumeral Muscular Dystrophy 1; FSHD2; FSHD1; Facioscapulohumeral Muscular Dystrophy 2; FSH Muscular Dystrophy; FSH
• Intervention / Treatment: Other: Observational

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.

• Study Type: Observational
• Enrollment (Estimated): 5000

Contacts and Locations

• Study Contact: Name: Kayleigh Worek, MS; Phone Number: 2900 781-301-6060; Email: betterlife@fshdsociety.org

Study Locations

• United States
  • Massachusetts
    • Randolph, Massachusetts, United States, 02368
      • Recruiting
      • FSHD Society
      • Contact: Kayleigh Worek, Program Manager, MS; Phone Number: 2900 781-301-6060; Email: betterlife@fshdsociety.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

People with FSHD living in the United States or its territories age one year or older.

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Longitudinal Health Data	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).	Assessed annually from enrollment until study completion (10 years)
Self Reported FSHD Progression	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.	Assessed every 6 months, until study completion (10 years)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Anxiety Patient Reported Outcome Measure	Assesses frequency and impact of anxiety symptoms using a 5-point rating system. Higher scores indicate more anxiety.	Quarterly, until study completion (10 years)
Depression Patient Reported Outcome Measure	Assesses frequency and impact of depression symptoms using a 5-point rating system. Higher scores indicate more depression.	Quarterly, until study completion (10 years)
Pain Patient Reported Outcome Measure	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.	Quarterly, until study completion (10 years)
Sleep Patient Reported Outcome Measure	Assesses the quality of sleep using a 5-point rating system. Higher scores indicate poor sleep quality.	Quarterly, until study completion (10 years)
Fatigue Patient Reported Outcome Measure	Assesses the presence and severity of fatigue using a 5-point rating system. Higher scores indicate more fatigue.	Quarterly, until study completion (10 years)
Upper Body Patient Reported Outcome Measure	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.	Quarterly, until study completion (10 years)
Mobility Patient Reported Outcome Measure	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.	Quarterly, until study completion (10 years)
Physical Activity Patient Reported Outcome Measure	Assesses the amount of time spent engaged in physical activity in minutes. Higher scores indicate greater levels of physical activity.	Quarterly, until study completion (10 years)
Falls Patient Reported Outcome Measure	Assesses fear of falling during daily activities using a 4-point scale. Higher scores indicate a greater fear of falling.	Quarterly, until study completion (10 years)
Research Preferences	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.	Yearly until study completion (10 years)
Diagnostic Journey	Survey questions to describe participant experience and barriers getting diagnosed with FSHD.	One time at Baseline
Healthcare Experiences	Survey questions to describe healthcare utilization and experiences navigating healthcare settings.	Yearly, until study completion (10 years)
Women's Health	Survey questions about history of menstruation and pregnancy.	Yearly, until study completion (10 years)
Social Determinants of Health	Survey questions about current employment status/job security, neighborhood, religious practices, discrimination, and food security.	Yearly, until study completion (10 years)

Collaborators and Investigators

• Sponsor: FSHD Society
• Investigators: Principal Investigator: Amanda Hill, MBA, FSHD Society

Publications and helpful links

Helpful Links

• Learn more and enroll in BetterLife FSHD

Study record dates

Study Major Dates

• Study Start (Actual): August 2, 2024
• Primary Completion (Estimated): January 1, 2060
• Study Completion (Estimated): January 1, 2060

Study Registration Dates

• First Submitted: March 24, 2025
• First Submitted That Met QC Criteria: February 6, 2026
• First Posted (Actual): February 13, 2026

Study Record Updates

• Last Update Posted (Actual): February 20, 2026
• Last Update Submitted That Met QC Criteria: February 19, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Registry; FSHD; facioscapulohumeral muscular dystrophy; Facioscapulohumeral dystrophy; FSHD1; FSHD2; FSH Muscular Dystrophy
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Muscular Disorders, Atrophic; Muscular Dystrophies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophy, Facioscapulohumeral; Facioscapulohumeral Muscular Dystrophy 1B; Health Services Administration; Quality of Health Care; Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Watchful Waiting
• Other Study ID Numbers: Pro00079388

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: All individual participant data (IPD) collected by BetterLife is made available to the research community in the form of de-identified or limited datasets upon request and approval by the Steering Committee.
• IPD Sharing Time Frame: IPD and supporting information were available beginning August 2024 and with no planned end date.

IPD Sharing Access Criteria

Researchers can request access IPD and supporting information. Researchers may include pharmaceutical or biotechnology companies, academic institutions, hospitals, or other organizations involved in research and therapeutic development. Government agencies or payor systems who make decisions about treatment approvals and access, for example, the Food and Drug Administration (FDA) or the Institute for Clinical and Economic Review (ICER) can also request access.

To request access, researchers should visit www.BetterLifeFSHD.org or email BetterLife@FSHDSociety.org. Researchers must provide key details about their research project, including PI and study contacts, brief background information, clear study objectives, procedures, and outcomes, summary of importance for the field, and documentation of IRB approval, when required. All requests are reviewed by the Steering Committee. Projects that are approved must agree to a data use agreement.

• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No