From: International Undiagnosed Diseases Programs (UDPs): components and outcomes
Study/UDP name | UDP location | Study information | Period | Sample |
---|---|---|---|---|
Program for Undiagnosed Rare Diseases [31] | Belgium | Outcomes of UDP | July 2015–June 2020 | 329 individuals |
Care4Rare Canada Consortium [25] | Canada | Outcomes of three continuous programs of UDP | April 2011–2021 | 1806 families |
Solve-RD [21] | Europe | Outcomes of reanalysis cohort | 2020 | 4703 individuals |
Italian Undiagnosed Rare Diseases Network [30] | Italy | Outcomes of UDP | March 2016–June 2019 | 71 individuals |
Initiative on Rare and Undiagnosed Diseases, IRUD [34] | Japan | Outcomes of UDP | 2015–March 2021 | 6301 families |
KUDP [27] | Korea | Outcomes of Phase I of program | 2018–2020 | 458 individuals |
Singapore UDP [24] | Singapore | Outcomes of UDP | August 2014–July 2019 | 275 individuals |
South Africa UDP [29] | South Africa | Outcomes of first 100 analyses | October 2020–2022 | 100 individuals |
SpainUDP [28] | Spain | Outcomes of UDP | October 2015–May 2018 | 147 individuals |
Karolinska Centre for Rare Diseases [33] | Sweden | Outcomes of UDP | 2015–2019 | 3219 individuals |
100,000 Genomes Project [32] | UK | Outcomes of 2-year pilot | January 2014–December 2016 | 2183 families |
Undiagnosed Disease Network [20] | US | Outcomes of UDP | July 2015–September 2019 | 964 individuals |
UDP-Vic [26] | Victoria, Australia | Outcomes of UDP | March 2016–June 2018 | 150 families |