BetterLife FSHD: A Patient-driven Health and Research Platform

NCT07409142 | Recruiting

• 1 other identifier: Pro00079388
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

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

Conditions

FSH; FSH Muscular Dystrophy; FSHD - Facioscapulohumeral Muscular Dystrophy; FSHD1; FSHD; FSHD2; Facioscapulohumeral Muscular Dystrophy; Facioscapulohumeral Muscular Dystrophy 1; Facioscapulohumeral Muscular Dystrophy 2; Facioscapulohumeral Muscular Dystrophy (FSHD); Muscular Dystrophy, Facioscapulohumeral

Keywords

FSHD; Registry; FSH Muscular Dystrophy; FSHD1; FSHD2; Facioscapulohumeral dystrophy; facioscapulohumeral muscular dystrophy

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (14)

• Anxiety Patient Reported Outcome Measure

  Quarterly, until study completion (10 years)

• Depression Patient Reported Outcome Measure

  Quarterly, until study completion (10 years)

• Pain Patient Reported Outcome Measure

  Quarterly, until study completion (10 years)

• Sleep Patient Reported Outcome Measure

  Quarterly, until study completion (10 years)

• Fatigue Patient Reported Outcome Measure

  Quarterly, until study completion (10 years)

Interventions

Observational OTHER

Observational study

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• Individuals residing outside the United States or its territories
• Unable or unwilling to provide consent, or assent, when applicable

Sponsors & Collaborators

• FSHD Society: lead

Study Sites (1)

FSHD Society

Randolph, Massachusetts, 02368, United States

RECRUITING

Related Links

• Learn more and enroll in BetterLife FSHD

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral; Facioscapulohumeral Muscular Dystrophy 1B

Interventions

Watchful Waiting

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Quality of Health Care; Health Services Administration

Study Officials

• Amanda Hill, MBA

  FSHD Society

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kayleigh Worek, MS

CONTACT

781-301-6060; betterlife@fshdsociety.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 100 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Senior Director of Research

Study Record Dates

• First Submitted: March 24, 2025
• First Posted: February 13, 2026
• Study Start: August 2, 2024
• Primary Completion (Estimated): January 1, 2060
• Study Completion (Estimated): January 1, 2060
• Last Updated: February 20, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: IPD and supporting information were available beginning August 2024 and with no planned end date.
• 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.

Locations

US (1)