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Table 5 Mean neutrality (sensitivity, specificity) of clinical studies measured against first and composite disease-specific disease severity scales

From: Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available

Rare disease

Number of papers

Average neutrality

First DSS only

Composite DSS

Acromegaly

30

0.899 (0.029, 0.870)

1.034 (0.110, 0.923)

Amyotrophic lateral sclerosis

81

1.044 (0.109, 0.935)

1.138 (0.166, 0.972)

Charcot Marie tooth

12

1.371 (0.472, 0.898)

1.117 (0.215, 0.902)

Cystic fibrosis

156

0.991 (0.008, 0.983)

1.013 (0.026, 0.987)

Encephalitis

12

0.956 (0.000, 0.956)

0.905 (0.000, 0.905)

Fabry disease

15

0.935 (0.039, 0.896)

1.018 (0.105, 0.913)

Friedreich ataxia

18

1.102 (0.299, 0.803)

1.248 (0.344, 0.904)

Gaucher type I

15

0.969 (0.142, 0.851)

0.943 (0.112, 0.831)

Huntington’s disease

32

1.456 (0.500, 0.956)

1.162 (0.205, 0.957)

Juvenile rheumatoid arthritis

39

0.983 (0.032, 0.951)

1.109 (0.147, 0.962)

Sjogren’s syndrome

37

1.323 (0.401, 0.922)

1.146 (0.224, 0.922)

Tourette’s syndrome

36

1.784 (0.837, 0.946)

1.395 (0.448, 0.946)