Development of a Duchenne Muscular Dystrophy Registry in South Africa to optimise care

Background: The most prevalent, most lethal of the inherited dystrophies is Duchenne Muscular Dystrophy (DMD) and globally, the incidence is 1 in 3500 live male births. Currently, DMD has no cure, the latest care guidelines, especially on corticosteroids, cardiac interventions, and non-invasive ventilation, are all associated with improved muscle function, survival and quality of life. This reflects the fact that the natural history of DMD has been changed by these effective measures. Despite these advances, the progression and disastrous outcome of the disease cannot be modified. Potential therapeutic approaches that target the causative genetic mutations raise hopes of promising treatment for DMD. Many clinical trials of molecular genetic therapies have been planned and conducted for DMD. In South Africa, even though mutational characteristics of South African DMD/BMD patients have been described in several studies, the development of experimental therapies faces many challenges due to the lack of epidemiological data, the natural history of the disease and information about clinical care amongst Africans. Understanding the disease course of the local population can lead to better care approaches, further with the possibility of gene therapy becoming available, patients that would qualify for such treatment need to be identified. Hence the need for a DMD specific disease registry. Objective: This study aims to describe the concept and design of the first DMD disease registry of South Africa using Research Electronic Data Capture (REDCap) Methods: A comprehensive literature review was undertaken to identify the key areas of DMD, which must be recorded to permit comparison across disease expression and intervention variables. The registry was developed using REDCap's web based online designer accessed through the Clinical Research Centre (CRC) in the Faculty of Health Sciences at the University of Cape Town, and the workflow methodology was adopted to manage the registry. Clinical data from DMD patients form the database and consists of seven parts: 1) Enrolment details, 2) Background data, 3) Current disease, 4) Schooling, career prospects, and life style/psychological details, 5) basic activity of living scale, 6) power chart, 7) current motor function/symptoms. Electronic case report forms were created from these clinical data by the use of REDCap and for specific variables serial entries were possible relating to disease progression. We adopted international data standards proposed by TREAT-NMD, a global network of registries on DMD to ensure our data is internationalised and comparable to other registries. Results: Retrospective data entry combined with dynamic prospective recording of data was utilized in this project. Building on an existing basic database, 100 confirmed DMD boys are currently eligible for inclusion into the registry. The registry database consists of 7 forms collecting information on clinical and genetic information, which is subdivided into 100 items making a total of 210 variables. As our registry is an on-going study, sequential analysis of accumulated data will be done going forward to review trends on our DMD patients. Conclusions: This work describes the concept and design of our DMD registry and the steps followed to its establishment with REDCap. The focus is to consolidate clinical and genetic information on South African DMD patients that will translate to clinical research and form the basis for this patient information to be linked nationally and internationally. It is the hope that such an effort can be replicated in the conceptualisation of new disease registries