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 |