REGISTRIES AND CARE OF NMD: EP.346 The Egyptian neuromuscular registry

Abstract

The Egyptian neuromuscular registry (ENR) was founded in 2012 by voluntary efforts in collaboration with TREAT-NMD. To our knowledge, the ENR is the first registry in the Eastern Mediterranean region dedicated to hereditary neuromuscular disorders (NMD). Currently, the ENR is directed by the Myo-Care National Foundation, an Egyptian NGO governed by a board of directors of national and international NMD experts. Myo-Care national foundation was founded in 2019 with four main missions; 1) fund research to study the phenotype-genotype characteristics of the Egyptian patients, 2) raise awareness to facilitate genetic diagnosis and inform improvements in standards of care, 3) advocate for the novel genetically modified therapies and 4) for readiness to clinical trials. The ENR curate genetically confirmed patients from seven NMD; (DMD, SMA, LGMD, FSHD, DM, GNE myopathy, and CMS), collecting the core dataset for five of the seven diseases, namely, (DMD, SMA, LGMD, FSHD, and DM) following the TREAT-NMD guidelines. In the last eight years, the ENR participated in more than twenty pharmaceutical and academic data enquires. And was involved in two of the TREAT-NMD projects aiming to develop the core dataset for global registries; 1) the pilot study for SMA core data set implementation, and 2) the "LGMD Dataset Working Group." Academically the ENR contributed to four international studies published in international journals. The registry is clinician-reported, currently, including 2,012 genetically confirmed patients registered from all over Egypt and North Africa (1445 DMD, 255 LGMD, 196 SMA, 22 GNE myopathy, 64 FSHD, and 30 DM). Data is uploaded onto a safe, encrypted web-based platform. However, disease-specific patient populations, especially in rare disorders, are often small and geographically dispersed. Considering Egypt's high population and the widespread consanguineous marriage, it's crucial to develop multidisciplinary centers in the main cities, training medical professionals and curators to build a national registry. Hereditary NMD is gaining recognition due to the emerging novel gene modifying therapies; a centralized dataset can inform clinical trials and establish consensuses to improve the prognosis for Egypt's rare NMD community. The ENR shows potential for an Egyptian national NMD and can be used as a base dataset.