Myotubular And Centronuclear Myopathy Patient Registry: Accelerating The Pace Of Research And Treatment

The Myotubular/centronuclear myopathy (MTM/CNM) patient registry is an international, patient-reported, disease-specific registry. It was established in March 2013 to facilitate and accelerate translational and clinical research through the identification of information and participants. Registrations are accepted from patients, parents/guardians of patients, female carriers of X-linked myotubular myopathy (XLMTM), and from family members who wish to register deceased patients. After initial registration, online consents must be completed before access is given to the rest of the questionnaires including clinical information. Patients' genetic and/or muscle biopsy reports can be uploaded if available. As of February 22nd, 2017. 188 participants have registered from 27 countries, and 145 have consented (122 patients and 23 XLMTM female carriers). Out of 122 patients, 98 patients reported to be diagnosed as MTM (64 males, 2 females) or CNM (19 males, 11 females) both pathologically and genetically. Genetic mutations were identified in myotubularin gene (MTM1) (n = 62), dynamin-2 gene (n = 15), ryanodine receptor-1 gene (n = 3), bridging integrator-1/amphiphysin-2 gene (n = 2), or titin gene (n = 1). The median deceased age among 18 patients with MTM1 was 2.5 years old. We observed that clinical features were varied among female carriers as well as patients having some mutation in the same gene. The registry contains a significant amount of data from diverse and growing cohorts of MTM/CNM patients, and provides a means of accessing and analyzing a cross-sectional snapshot of the international patient population. It can help to identify and recruit patients into all aspects of clinical research, and aims to assist and support a collaborative effort between clinicians, researchers and patient groups to increase our understanding of these conditions and enhance trial readiness in the patient population.