Int J Environ Res Public Health 2022 Jun 2;19(11). Epub 2022 Jun 2.
CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal.
Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effective therapies are almost nonexistent. To better understand the reasons behind this, to analyze ongoing therapy research and development (R&D) for CDG, and to provide future guidance, a community-led mixed methods approach was organized during the 4th World Conference on CDG for Families and Professionals. In the quantitative phase, electronic surveys pointed to the prioritization of six therapeutic R&D tools, namely biobanks, registries, biomarkers, disease models, natural history studies, and clinical trials. Read More