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Table 3 Univariate relative risks of an orphan designation application at EMA or FDA for different disease characteristics and for publicly available scientific knowledge

From: Drug development for exceptionally rare metabolic diseases: challenging but not impossible

Disease characteristics

Total N = 166

OD application N = 42

No OD application N = 124

Univariate RR (95% CI)

1. Metabolic disease class

    

  Metabolic disease involving complex molecules

62

23 (37%)

39 (63%)

Ref

  Metabolic intoxication disease

36

14 (38%)

22 (61%)

1.1 (0.5–2.0)

  Energy metabolism disorder

45

3 (7%)

42 (93%)

0.2 (0.1–0.6)

  Carbohydrate metabolism disorder

12

1 (8%)

11 (92%)

0.2 (0.03–1.7)

  Other metabolic disease

11

1 (9%)

10 (91%)

0.3 (0.03–1.8)

2. First description of the disease

    

  ≤ 1977

98

36 (37%)

62 (63%)

4.2 (1.8–9.9)

  > 1977

68

6 (9%)

62 (91%)

Ref

3. Prevalence

    

  1-9/1.000.000

38

25 (66%)

13 (34%)

5.0 (2.7–9.2)

  <1/1.000.000

128

17 (13%)

111(87%)

Ref

4. Prognosis

    

  Fatal/chronically debilitating despite treatment

96

34 (35%)

62 (65%)

2.7 (1.3–5.8)

  Non fatal/not chronically debilitating

61

8 (13%)

53 (87%)

Ref

  Unknown

9

0 (0%)

9 (100%)

NA

Scientific knowledge related variables

    

5. Gene function identified?

    

  Yes

140

42 (30%)

98 (70%)

26.1 (0.7–966)

  No

26

0 (0%)

26(100%)

Ref

6. Animal model available?

    

  Yes

87

33 (38%)

54 (62%)

3.0 (1.5–6.0)

  No

79

9 (11%)

70 (89%)

Ref

7. Preclinical proof of concept?

    

  Yes

53

31 (58%)

22 (42%)

6.0 (3.0–12.0)

  No

113

11 (10%)

102(90%)

Ref

8. In humans data available?

    

  Yes

76

31 (40%)

45 (59%)

3.3 (1.7–6.6)

  No

90

11 (12%

79 (88%)

Ref