Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR).

ABSTRACT

The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients. This paper presents a clear outline of the strategy to launch a global national registry. All patients diagnosed with one of the predefined 62 neuromuscular disease groups and living in Belgium may be included in the yearly updated Registry. Basic core data is harvested through a newly designed web application by the six accredited neuromuscular reference centres. In 2010, 3,424 patients with a neuromuscular disorder were registered. The most prevalent disease group in the Registry is Hereditary Motor and Sensory Neuropathy, as similarly stated by other studies, albeit the prevalence in Belgium is five times lower 6.5 per 100,000 in the north of Belgium, versus 17.0-41.0 per 100,000 in other areas of Europe. Very few patients were captured in the south of the country. With the aim to collect valuable epidemiological data, the registry targets to gather high quality data, that the sample to be representative of the population and that it be complete. The past 5 years of building the registry have improved its quality, albeit the consistent gap in data from the south of the country prevails, influencing the estimated prevalence of these diseases. To this day, the true burden of neuromuscular diseases in Belgium is not known but actions have been undertaken to address these issues.