Name | Referred patients | Monocentric/multicentric | Accepted patients* | % of patients < 18y | Diagnostic rate | Phenotypes | Reference |
---|---|---|---|---|---|---|---|
Initiative on Rare and Undiagnosed Disease in Japan (IRUD) | 5359 | Multicentric | 4205 | NA | 42.9% | Diverse | Takahashi et al. [15] |
Undiagnosed Disease Network (UDN) | 1519 | Multicentric | 601 | 57% | 35% | Diverse | Splinter et al. [14] |
Program for undiagnosed rare diseases (UD-PrOZA) | 692 | Monocentric | 329 | 6.7% | 18% | Diverse | This study |
Singapore Undiagnosed Disease Program | NA | Multicentric | 196 | 90% | 37.2% | Global developmental delay/ Congenital malformations | Bhatia et al. [16] |
The Korean undiagnosed diseases program (KUDP) | NA | Multicentric | 72 | 94.8% | 38.9% | Diverse | Kim et al. [17] |
SpainUDP | NA | Multicentric | 30 | 74.1% | 67% | Diverse | López-MartÃn et al. [18] |
The Italian Undiagnosed Rare Diseases Network (IURDN) | 110 | Multicentric | 13 | 31% (92% onset < 18y) | 53.8% | Diverse | Salvatore et al. [19] |
Undiagnosed Diseases Program – Western Australia (UDP-WA) | NA | Multicentric | NA | NA | NA | NA | Baynam et al. [46] |
National Network to Collaborate on Diagnosis and Treatment of Rare Diseases China | NA | Multicentric | NA | NA | NA | NA | Ren et al. [47] |