P-03

Portuguese patient registry for duchenne/ becker muscular dystrophy

Jorge Oliveira^I; Ana Gonçalves^I; Teresa Moreno^II; Manuela Santos^III; Isabel Fineza^IV; Rosário Santos^I

^IUnidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto E.P.E., Porto, Portugal
^IIUnidade de Neuropediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal
^IIIConsulta de Doenças Neuromusculares, Serviço Neuropediatria, Centro Hospitalar do Porto E.P.E., Porto, Portugal ]]> ^IVCentro de Desenvolvimento da Criança Luís Borges, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

jorge.oliveira@chporto.min-saude.pt

Duchenne/Becker muscular dystrophy (D/BMD) collectively known as the dystrophinopathies, is one the most frequent neuromuscular diseases with onset during pediatric age, having an estimated incidence of about one in every 3500 to 5000 boys. Over the last two decades, the Molecular Genetics Unit of  CGMJM  has  performed the genetic characterization of over 360 D/BMD patients, leading  to  the  identification  of  189  mutations,  including 46 novel variants. Comprehensive analysis also involved expression studies at  the  mRNA  level,  the  identification of splicing changes and ultimately providing evidence for apparent exceptions to the reading-frame rule. Considering the recent mutation-based therapeutic approaches, DMD gene analysis has gone beyond the molecular confirmation of the clinical diagnosis and is now also crucial for patient inclusion in disease registries and in ongoing clinical trials. In 2007, the network of excellence for the neuromuscular field TREAT-NMD started a global patient registry for D/ BMD. This registry depends entirely on data gathered at the national level in country-specific disease  registries  using the same database items (mutational and clinical). This standardization enables consensus and facilitates clinical research, the development of new therapeutic approaches and clinical trials for new drugs. These trial-ready registries are also useful for phenotype/genotype correlations and epidemiological profiles of the disease. In response to this international endeavor, we developed the Portuguese D/BMD registry which is currently located in the CGMJM, Centro Hospitalar do Porto. The Portuguese registry is based on the Leiden Open Variation Database (LOVD) software and follows the TREAT-NMD charter for patient database/registry, abiding by National and European legislation concerning data. The national registry uses the clinical reporting model, where three medical coordinators from major hospital centers (Porto, Coimbra and Lisbon) were assigned to data collection (personal, clinical and pathological data) and patients’ regular clinical (re)evaluation. Registry inclusion is completely voluntary and requires a specific informed consent. All the information, namely data sent by the clinician, consent and the genetic data obtained in the laboratory, is assembled by the D/BMD registry curators and added to the database after validation. The registry was officially launched in 2012 and until now eighteen patients have been included in the database.