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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