The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.

Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project

“…All these points are felt even more sharply in the context of rare diseases. [18][19][20] Data access: between trust and control Respondents have a high level of trust in the constitution and use of the database by researchers. They trust professionals who jointly provide care and research missions, especially in the context of LDs where there is no real frontier between care and research.…”

Trends of steroid therapy for Duchenne muscular dystrophy in Japan

“…A National Registry of Dystrophinopathy (Remudy) 15 was established in collaboration with the Translational Research in EuropeAssessment and Treatment of Neuromuscular Diseases (TREAT-NMD) Network of Excellence 16 in 2009. As of December 2013, it included 1080 registrants with genetically and clinically diagnosed DMD.…”

Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going?

“…In October 2014, Prosensa Therapeutics announced that the FDA had given drisapersen (an exon skipping agent for exon 51) a fast track designation. [17][18][19] [20,21] Families are updated at each clinic visit of the stage of the data collection and how it relates to a potential gene therapy option. International liaison is also in place to ensure there is consistency in the patient selection as potential candidates for intervention.…”