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Table 1 Descriptive characteristics of included studies (n = 60)

From: Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases

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)
  1. anot mutually exclusive as some studies discussed more than one research paradigm
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172