Global DMD Registry statistics
The TREAT-NMD Global DMD Registry was established in 2007 as a way of harmonizing the national DMD registries using a common dataset. As a result, information can be shared and compared between the different national registries by linking into a centralized database.
A systematic review of the national DMD registries, focusing on the design and utilization of the registries, was carried out in August 2012 and a subsequent publication was produced:
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design and utilisation by industry and academia
Prior to TREAT-NMD (pre-2007) there were four national DMD registries already in existence – the French UMD Duchenne database, the UK Parent Project (later Action Duchenne) Duchenne registry, the Czech National DMD/BMD registry and the United Dystrophinopathy Project (UDP) in the USA. The total number of patients represented in these original registries was approximately 2500. (See Figure 1a and 1b below)
Each of the registries collected significantly different types of patient data and the information was not readily available to the wider scientific community. This made sharing and comparing data very difficult.
Discussions amongst patients, patient advocacy groups, and clinicians highlighted the need for a more harmonized approach to patient registries. A “mandatory dataset” for national DMD registries has since been defined with the objective of feasibility assessment, planning and recruitment for clinical trials. Mandatory data sets for other diseases have followed. All TREAT-NMD registries now collect the mandatory dataset.
Pre 2007: Countries with a national DMD registry before TREAT-NMD
2013: Countries with a national DMD registry
The registries contained >13,500 patients from 31 different countries. The smallest registry consisted of 18 patients and the largest of 3337 patients (Figure 2). 75% of registries report geographical coverage at the national level, 20% at the regional level (a specific region within a country) and 5% either at the international or EU level. Coverage of the patient population in the different countries varies.
Three countries have more than one DMD registry (Spain, Italy, and the United States). A number of registries represent patients from more than one country.
Number of patients in each national DMD registry by country (highest to lowest).
Registries reported multiple functions ranging from therapeutic intervention and scientific development to strategic planning. The most prevalent use of registries included, clinical research and recruitment of patients to clinical trials (94%), epidemiological research (83%), natural history surveys and disease surveillance (75%), genotype/phenotype analysis and mutation data collection (66% and 65% respectively). 49% of registries reported using the registry for social planning and health care services planning.
All of the registries questioned reported that their registry had been established following TREAT-NMD guidelines, either as part of a research project or following autonomous initiatives (clinician or patient driven).