CureDuchenne Link®: A Resource for Research

Study Overview
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Brief Summary
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CureDuchenne link is a data hub comprised of integrated biospecimens, clinical data, and self- and/or caregiver-reported information from participants. Anyone over 4 weeks old who has been diagnosed with DMD or BMD or who is a carrier of DMD or BMD can join. Parents or legal guardians can sign up their child(ren).

Detailed Description
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Individuals can participate through the CureDuchenne Link™ application (accessible via mobile device or web interface) and receive communications about research opportunities and community programs. Participation may be done using virtual methods, at a project site, and/or at community events nationwide. All collected information will be stored in a secure, HIPAA-compliant data warehouse for approved researchers to use for studies relevant to DMD, BMD and other neuromuscular disorders. Combining health and outcomes data with biospecimens provides an impactful solution and novel resource for researchers, allowing for effective translational research.

Official Title
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CureDuchenne Link®: A Resource to Support Research Studies in Duchenne and Becker Muscular Dystrophy (DMD/BMD)

Conditions
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Duchenne Muscular Dystrophy, Becker Muscular Dystrophy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Any of the following are true: Currently has a confirmed diagnosis of DMD/BMD based on genetic testing, muscle biopsy, or clinical diagnosis. Currently has a confirmed diagnosis of carrier status for DMD/BMD based on genetic testing. Parent/guardian (for minor participants) or participant gives informed consent and/or assent as required by local regulations. Is age 4 weeks or older at the time of consent. Exclusion Criteria: Is a foster child or ward of the state. Is a prisoner.

Ages Eligible for Study
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Minimum Age: 4 Weeks

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Duchenne and Becker muscular dystrophy<br>Individuals with Duchenne muscular dystrophy and Becker muscular dystrophy | |
| Carriers<br>Carriers of Duchenne muscular dystrophy and Becker muscular dystrophy | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnosis | There is no intervention in this project. Participants will provide documentation to support their diagnosis of Duchenne muscular dystrophy, Becker muscular dystrophy, or a carrier of these mutations | Upon study entry | 
| Genetic Mutation | Participants will be asked to provide genetic testing reports confirming their diagnosis, where available, which will be reviewed by a central genetic counselor. | Upon study entry or when genetic testing results are available | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Functional Status | Self reported data (questionnaire on ambulation and mobility) will be captured | Upon study entry and every 6-12 months thereafter for up to ten (10) years | 
| North Star Ambulation Assessment (NSAA) Score | Clinically reported NSAA scores will be captured | Upon study entry and every 6-12 months thereafter for up to ten (10) years | 
| 6 Minute Walk Test (6MWT) Score | Clinically reported 6MWT scores will be captured | Upon study entry and every 6-12 months thereafter for up to ten (10) years | 
| Corticosteroid Status | Self reported and clinically reported corticosteroid status (past and present) will be captured | Upon study entry and every 6-12 months thereafter for up to ten (10) years | 
| Cardiac Status | Self reported and clinically reported cardiac status (past and present) will be captured | Upon study entry and every 6-12 months thereafter for up to ten (10) years | 
| Respiratory Status | Self reported and clinically reported respiratory status (past and present) will be captured | Upon study entry and every 6-12 months thereafter for up to ten (10) years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Carrier, DMD, BMD