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Brooks et al. Rare Dis Orphan Drugs J 2024;3:15 https://dx.doi.org/10.20517/rdodj.2023.27 Page 7 of 14

Table 2. Funded rare diseases clinical research network consortia 2003-2024
RDCRN1 RDCRN2 RDCRN3 RDCRN4
Consortium name 2003- 2009- 2014- 2019-
2008 2013 2018 2024
Genetic disorders of mucociliary clearance consortium (GDMCC) X X X X
Urea cycle disorders consortium (UCDC) X X X X
Vasculitis clinical research consortium (VCRC) X X X X
Porphyrias consortium (PC) X X X
North American mitochondrial disease consortium (NAMDC) X X X
Dystonia coalition (DC) X X X
Brain vascular malformation consortium (BVMC) X X X
Nephrotic syndrome study network (NEPTUNE) X X X
Primary immune deficiency treatment consortium (PIDTC) X X X
Inherited neuropathy consortium (INC) X X X
Lysosomal disease network (LDN) X X X
Clinical research in ALS and related disorders for therapeutic development (CReATe) X X
Brittle bone disorders consortium (BBDC) X X
Consortium of eosinophilic gastrointestinal disease researchers (CEGIR) X X
Developmental synaptopathies consortium (DSC) X X
Phenylalanine families and researchers exploring evidence (PHEFREE) X
Myasthenia gravis rare disease network (MGNet) X
Congenital and perinatal infections consortium (CPIC) X
Frontiers in congenital disorders of glycosylation (FCDGC) X
Global leukodystrophy initiative clinical trials network (GLIA-CTN) X
Rett syndrome, MECP2 duplications, and rett-related disorders consortium (RTT) X X X
Rare kidney stone consortium (RKSC) X X
Sterol and isoprenoid diseases consortium (STAIR) X X
Autonomic disorders consortium (ADC) X X
Rare lung diseases consortium (RLDC) X X
Advancing research and treatment for frontotemporal lobar degeneration consortium X
(ARTFL)
Clinical investigation of neurologic channelopathies (CINCH) X X
Salivary gland carcinomas consortium (SGCC) X
Chronic graft vs. host disease consortium (cGVHD) X
Bone marrow failure consortium (BMFC) X
Rare genetic steroid disorders consortium (RGSDC) X
Rare thrombotic diseases consortium (RTDC) X
Cholestatic liver disease consortium (CLiC) X
Data management and coordinating center - DMCC-CCHMC X
Data management and coordinating center - DMCC- USF X X X

dissemination of research. The current model for the DMCC provides centralized support and tools that are
shared across the network.

The current network consists of 20 consortia with 358 active clinical sites, with an average of 19 sites per
consortium. Each consortium currently investigates an average of nine different disorders.

The RDCRN as a network has been highly productive, producing 2,763 publications in 644 journals from
[8]
2004 to 2020 with well over 100,000 citations . Their work has directly or indirectly led to the development
of ten FDA-approved therapeutics. As one recent example, a publication from the Inherited Neuropathy
Consortium (INC) explored gene variants related to Charcot-Marie-Tooth disease. The INC research team