A presentation by Neil Bennett regarding Action Duchenne and building a patient registry, delivered at Sano Genetics' Demystifying Genomics for Patient Registries Event on 11th July 2019.

1. The UK DMD Registry

2. A world where lives are no longer
limited by Duchenne muscular dystrophy

3. Setting up the UK DMD Registry
- Globally, one of the first for Duchenne (in 2006/7)
- Original registry built by a parent with IT knowledge
- Support of the DMD community and endorsed by professionals
- Steering committee: clinicians, geneticists, families
- Patient registry, regulated by Data Protection and GDPR

4. Our model
- Voluntary and anonymous
- Web based, patient-input model
- Gene mutation validated by geneticist

5. What to collect?
- Data set agreed with gobal federation of registries (TREAT-NMD)
- Covers a range of areas
- Demographic
- Medical interventions
- Functional measures
- Trial inclusion criteria

6. How does the registry support clinical trials?
- Originally designed to drive recruitment
- Duchenne trials have a genetic inclusion criteria
- Build alongside the original trials
- Now most concerned with feasibility studies
- Approached by pharmas interested in UK trial centres
- Communication between researchers and patients

7. How does the registry support research?
- Record prevalence and natural history of the disease
- Sending surveys to targeted audiences
- Identifying participants for basic research studies
- Provide information to clinical care studies
- Communication between researchers and patients

8. Addressing the challenges
- Maintaining engagement for data updating
- Collecting certified medical data
- Dedicated registry curator
- First point of contact
- Well-known in community

9. Any Questions?
neil@actionduchenne.org