A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation.

Abstract

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. Subsequently, in the qualitative phase, the challenges and solutions associated with these research tools were explored through community-driven think tanks. The multiple challenges and solutions identified administrative/regulatory, communication, financial, technical, and biological issues, which are directly related to three fundamental aspects of therapy R&D, namely data, sample, and patient management. An interdependence was traced between the prioritized tools, with diagnosis and therapies acting as bidirectional triggers that fuel these interrelationships. In conclusion, this study's pioneering and adaptable community-led methodology identified several CDG therapy R&D gaps, many common to other rare diseases, without easy solutions. However, the strong proactive attitude towards research, based on inclusive and international partnerships and involving all members of the CDG community, sets the direction for better future therapy R&D.

• Authors: Rita Francisco, Sandra Brasil, Carlota Pascoal, Andrew C Edmondson, Jaak Jaeken, Paula A Videira, Cláudia de Freitas, Vanessa Dos Reis Ferreira, Dorinda Marques-da-Silva
• Journal: International journal of environmental research and public health (Int J Environ Res Public Health) Vol. 19 Issue 11 (06 02 2022) ISSN: 1660-4601 [Electronic] Switzerland
• PMID: 35682409 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Biomarkers

Topics

• Biomarkers
• Congenital Disorders of Glycosylation (diagnosis, genetics, therapy)
• Glycosylation
• Humans
• Surveys and Questionnaires