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Table 3 Comparison to other rare disease initiatives

From: Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

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-Martín 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]

  1. NA: not available
  2. *In which genotyping and phenotyping were finished