The National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD): rationale and design

Abstract

Abstract Background Oculo-pharyngeal muscular dystrophy (OPMD) is a rare disease, caused by trinucleotide repeat expansion in the PABPN1 gene, inherited in an autosomal dominant (AD) manner. Its main features are eyelid ptosis and dysphagia, which manifest at the end of the fifth decade of life. Other symptoms include proximal muscle weakness and bulbar muscle weakness. Although OPMD is prevalent worldwide, a higher prevalence has been reported in the Jewish population from Bukhara. Currently, no specific drugs are available for OPMD. Objective Our National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD) study aims to provide a framework for the assessment and documentation of the natural history of the diseases as we as a multi-disciplinary management of patients with OPMD. The IsrO-PMD may be the cornerstone of future clinical trials for novel therapies for OPMD. Methods The IsrO-PMD is a national prospective registry that involves non-interventional data collection based on the Global Rare Diseases Patient Registry (GRDPR) and data repository standard. Inclusion criteria are clinical diagnosis of OPMD and positive genetic testing. Patients who meet inclusion criteria will be examined using a series of multi-disciplinary investigations and questionnaires including periodic follow-up examinations. Specific attention is given to comprehensive neurological, swallowing, and ophthalmological evaluations. Discussion The establishment of this national registry will enhance our understanding of the natural history of OPMD, establish quality care benchmarks, and develop treatment strategies in addressing the multi-system pathophysiology of the disease and associated comorbidities. Our registry provides a foundation for the use of new cutting-edge treatments as they become available.