Frontiers in Congenital Disorders of Glycosylation (FCDGC)

Congenital disorders of glycosylation (CDG) consist of more than 130 different inborn errors of metabolism at an estimated overall incidence of greater than 1 in 100,000. While these disorders were first genetically defined in the 1990s, there is no data available on their natural history, no comprehensive patient registry, no reliable screening tests for many types, and large gaps in clinical trial readiness. In response, a nationwide network of 13 sites total (including 9 clinical sites) was established to: define the natural history; validate patient-reported outcomes and share CDG knowledge; develop and validate new biochemical diagnostic techniques and therapeutic biomarkers to increase clinical trial readiness; and evaluate whether dietary treatments restore appropriate glycosylation to improve clinical symptoms and quality of life. As with all RDCRN consortia, patients are key partners in research. The consortium leverages cross-disciplinary, team-based clinical science to address decades of unresolved questions; increase clinical trial readiness; advance and share knowledge, awareness and education on CDG; and, most importantly, develop treatments and meet unmet patient needs.

The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). FCDGC is funded under grant number U54NS115198 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Office of Dietary Supplements (ODS). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). Funding support for the DMCC is provided by NCATS and NINDS.