Study characteristic | Number of studies (%) |
---|---|
Year of publication | |
 1990–1994 | 1 (2) |
 1995–1999 | 2 (3) |
 2000–2004 | 3 (5) |
 2005–2009 | 7 (12) |
 2010–2014 | 39 (65) |
 2015-present (June 21, 2017) | 8 (13) |
Country (corresponding author address) | |
 United States | 27 (45) |
 United Kingdom | 5 (8) |
 Canada | 8 (13) |
 France | 4 (7) |
 The Netherlands | 6 (10) |
 Germany | 3 (5) |
 Italy | 4 (7) |
 Belgium | 1 (2) |
 Ireland | 1 (2) |
 Australia | 1 (2) |
Sponsorship | |
 Industry affiliations | 16 (27) |
 None (no conflicts of interest declared) | 24 (40) |
 Other (e.g., government funding) | 6 (10) |
 Not explicitly reported | 14 (23) |
Disease/disease group of focus | |
 Rare diseases in general | 33 (55) |
 Disease groups: | |
  Inherited metabolic diseasesa | 2 (3) |
  Lysosomal storage disorders | 3 (5) |
  Pediatric rheumatic diseases | 1 (2) |
  Rare lung diseases | 2 (3) |
  Rare neonatal diseases | 1 (2) |
  Rare neurodegenerative diseases | 1 (2) |
  Rare renal diseases | 1 (2) |
 Individual disease(s): | |
  Alpha1-antitrypsin deficiency & pulmonary alveolar proteinosis | 1 (2) |
  Batten Disease | 1 (2) |
  Childhood polyarteritis nodosa | 2 (3) |
  Duchenne muscular dystrophy | 1 (2) |
  Familial hypercholesterolemia | 1 (2) |
  Familial Mediterranean fever | 1 (2) |
  Gaucher disease | 1 (2) |
  Hemophilia A | 1 (2) |
  Late-onset Pompe disease | 1 (2) |
  Non-dystrophic mytonia | 1 (2) |
  Pediatric multiple sclerosis & Creutzfeldt-Jakob disease | 1 (2) |
  Primary sclerosing cholangitis | 1 (2) |
  Scleroderma | 2 (3) |
  Vasculitis (rare form) | 1 (2) |
Types of studies | |
 Review article of multiple research methods | 28 (47) |
 Review article of a single research method | 11 (18) |
 Application/case example of research method | 17 (28) |
 Key article that operationalized steps for the research method | 3 (5) |
 Other | 1 (2) |
Research paradigm discusseda | |
 Explanatory evidence generation | 35 (58) |
 Comparative effectiveness/pragmatic evidence generation | 30 (50) |
 Patient-oriented evidence generation | 15 (25) |