P.04 New developments and data highlights in the international myotubular and centronuclear myopathy patient registry

Abstract

The centronuclear myopathies are congenital neuromuscular conditions characterised by the central location of the nucleus in muscle cells and a highly variable clinical picture. The presumably most common form is the ultra-rare X-linked myotubular myopathy (XLMTM) with an estimated incidence of 1 in 50,000-100,000 male births and a usually severe phenotype. The myotubular and centronuclear myopathy patient registry has been collecting demographic, genetic and longitudinal clinical data on affected individuals (living and deceased) and female carriers of XLMTM from all over the world, since 2013. It facilitates translational research by providing data to answer research questions or inform clinical trial feasibility studies, supporting recruitment into clinical trials and other research studies, and offering an important communication and engagement tool for this patient population. Patients and caregivers provide longitudinal data via recurring online questionnaires available in multiple languages. New developments for 2022 include the addition of 2 new languages, increased frequency of data collection, and a feature allowing participants to nominate their doctor to verify their diagnosis and contribute clinical data to their record. This poster will present the impact of the new developments and highlight the latest registry data. On 28-03-2022 the registry contained 404 participants (258 male and 146 female), of which 42 were reported as deceased (39 male and 3 female) and 362 living (219 male and 143 female). Of the 143 living females, 74 were registered as female carriers of XLMTM and 69 as patients. 52 countries are represented, with the largest cohorts being UK & Ireland (105), United States (101), and Germany (34). Causative genes reported include <i>MTM1, DNM2, BIN1, RYR1, TTN</i>, and <i>SPEG</i>. The myotubular and centronuclear myopathy patient registry contains important data on a diverse and growing international cohort of individuals affected by this group of rare and ultra-rare conditions. It aims to support all areas of translational research including epidemiology, clinical trial planning and recruitment, outcome measure development, standards of care, and real-world data for regulatory decision-making.