title: 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: BACKGROUND
  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.
authors.affiliation: Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA. james_hilbert@urmc.rochester.edu
authors.forename: James E
authors.initials: JE
authors.lastname: Hilbert
authors.forename: John T
authors.initials: JT
authors.lastname: Kissel
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Luebbe
authors.forename: William B
authors.initials: WB
authors.lastname: Martens
authors.forename: Michael P
authors.initials: MP
authors.lastname: McDermott
authors.forename: Donald B
authors.initials: DB
authors.lastname: Sanders
authors.forename: Rabi
authors.initials: R
authors.lastname: Tawil
authors.forename: Charles A
authors.initials: CA
authors.lastname: Thornton
authors.forename: Richard T
authors.initials: RT
authors.lastname: Moxley
mesh_terms: D000328:Adult; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000453:epidemiology*; D009223:Myotonic Dystrophy / Q000453:epidemiology*; D018579:Patient Selection; D035583:Rare Diseases; D012042:Registries / Q000592:standards*; D055815:Young Adult