Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
Conditions
Keywords
Carrier, DMD, BMD
Brief summary
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
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.
Interventions
None listed
Sponsors
CureDuchenne
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
4 Weeks to No maximum
Healthy volunteers
No
Inclusion criteria
1. Any of the following are true: 1. Currently has a confirmed diagnosis of DMD/BMD based on genetic testing, muscle biopsy, or clinical diagnosis. 2. Currently has a confirmed diagnosis of carrier status for DMD/BMD based on genetic testing. 2. Parent/guardian (for minor participants) or participant gives informed consent and/or assent as required by local regulations. 3. Is age 4 weeks or older at the time of consent.
Exclusion criteria
1. Is a foster child or ward of the state. 2. Is a prisoner.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnosis | Upon study entry | 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 |
| Genetic Mutation | Upon study entry or when genetic testing results are available | Participants will be asked to provide genetic testing reports confirming their diagnosis, where available, which will be reviewed by a central genetic counselor. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Functional Status | Upon study entry and every 6-12 months thereafter for up to ten (10) years | Self reported data (questionnaire on ambulation and mobility) will be captured |
| North Star Ambulation Assessment (NSAA) Score | Upon study entry and every 6-12 months thereafter for up to ten (10) years | Clinically reported NSAA scores will be captured |
| 6 Minute Walk Test (6MWT) Score | Upon study entry and every 6-12 months thereafter for up to ten (10) years | Clinically reported 6MWT scores will be captured |
| Corticosteroid Status | Upon study entry and every 6-12 months thereafter for up to ten (10) years | Self reported and clinically reported corticosteroid status (past and present) will be captured |
| Cardiac Status | Upon study entry and every 6-12 months thereafter for up to ten (10) years | Self reported and clinically reported cardiac status (past and present) will be captured |
| Respiratory Status | Upon study entry and every 6-12 months thereafter for up to ten (10) years | Self reported and clinically reported respiratory status (past and present) will be captured |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORDebra Miller
CureDuchenne
Outcome results
None listed