If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)

Abstract

Introduction Registries are becoming increasingly important for rare diseases as experimental therapies develop. This report describes the methodology behind the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) Patients and Family Members to facilitate the development of other rare disease registries. We also highlight data about the pathophysiology and select burdens of DM and FSHD reported at baseline and longitudinally. Methods The Registry consists of de-identified, patient reported information collected at baseline and annually and information from review of medical records. Investigators can use the Registry to analyze de-identified data and to facilitate recruitment into clinical studies. Results To date, the Registry has enrolled 1611 members, facilitated 24 studies, and collected data annually for up to 8 years. Genetic test results were obtained in 56.2% of enrollees. Approximately one-third of members used assistive devices and another one-third reported psychological problems at baseline. Wheelchair use was reported for both short and long distances by 7.0% of DM and 18.1% of FSHD members. Approximately 60% of members reported their employment was affected by their disease. Conclusions Strengths of the Registry include large sample sizes, stringent review of clinical and molecular data, annually updated information, and regular interactions between patients and investigators. Registry data provide new insights into the burdens of DM and FSHD, such as, psychological problems and reduced employment. Opportunities abound for investigators to utilize Registry resources to assess the impact of these and other burdens on health care costs, progression of symptoms, and quality of life.

Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1)

“…In phase 2, we used a large cross-sectional sample of participants with DM1 from the National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members (a national registry designed to advance research and knowledge of myotonic dystrophy and facioscapulohumeral muscular dystrophy [FSHD] through the enrolment of patients and assistance of researchers; http://www.urmc.rochester.edu/ nihregistry/). 17 We included each potential symptom of importance identified through phase 1 in a paper survey. When possible, the survey included the exact wording and description of symptoms obtained from participants in phase 1.…”

Diagnostic odyssey of patients with myotonic dystrophy

“…Registry membership is based on written consent, patient reported information (demographics, symptoms, etc. ), and review of each member’s medical record including clinical examinations and laboratory results [31]. Approximately half of the members of the Registry have genetic confirmation of their disease.…”

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

“…The present findings will be useful for the implementation of an Italian Registry of the Myotonic Dystrophies, which is currently under development. A few registries dedicated to DM1 and other DNA repeat expansion-related diseases exist at present, although patients enrolment is not strictly based on population [32][33][34] . Disease registries may be a precious tool for age stratification of patients in the design of cohort studies and for undertaking association studies [35] .…”