BACKGROUND: Rare diseases pose many research challenges specific to their 
scarcity. Advances in potential therapies have made it more important than ever 
to be able to adequately identify not only patients with particular genotypes 
(via patient registries) but also the medical professionals who provide care for 
them at particular specialist centres of expertise and who may be competent to 
participate in trials. Work within the neuromuscular field provides an example 
of how this may be achieved.
METHODS: This paper describes the development of the TREAT-NMD Care and Trial 
Site Registry (CTSR), an initiative of an EU-funded Network of Excellence, and 
its utility in providing an infrastructure for clinical trial feasibility, 
recruitment, and other studies.
RESULTS: 285 CTSR-registered centres, reporting 35,495 neuromuscular patients, 
are described alongside an analysis of their provision for DMD. Site 
characteristics vary by country: the average number of DMD patients seen per 
site in the United States (96) is more than in Germany (25), and 
paediatric/adult breakdown is also markedly distinct. Over 70% of sites have 
previous trial experience, with a majority including a Clinical Trials Unit. 
Most sites also have MLPA diagnostic capability and access to a range of medical 
specialists. However, in the three countries reporting most sites (US, the UK 
and Germany), few had access to all core DMD specialists internally. Over 60% of 
sites did not report any form of transition arrangement.
CONCLUSIONS: Registries of care and trial sites have significant utility for 
research into rare conditions such as neuromuscular diseases, demonstrated by 
the significant engagement by industry and other researchers with the CTSR. We 
suggest that this approach may be applicable to other fields needing to identify 
centres of expertise with the potential to carry out clinical research and 
engage in clinical trials. Such registries also lend themselves to the 
developing context of European Reference Networks (ERNs), which seek to build 
networks of centres of expertise which fit specific criteria, and which may 
themselves aid the sustainability of such registries. This is particularly the 
case given the utility of registries such as the CTSR in enabling networks of 
best-practice care centres.