Lisbon, 29 September 2022 – A new publication, led by CDG and Allies and APCDG during the 4th World Conference on CDG, used an innovative and adaptable community approach, and discovered several Research and development gaps in CDG therapy. In total, six challenges have been identified. This article comes along with several solutions proposed by the CDG community, and helps set the direction for more clinical trials and therapies for CDG.
Research and drug development encompass several phases, ranging from early drug discovery to post-market authorization and monitoring.
“The collective perceptions, experiences, and expectations of the CDG community, including families, researchers, and healthcare professionals, are unknown. CDG was described back in 1980 and in this study, we have united our community, and asked why 40 years after CDG description, we do not have yet more trials and therapies for CDG?” said Vanessa Ferreira (CDG and Allies founder and researcher, president to APCDG and sibling of a person living with CDG).
The urgent priorities highlighted during this study were biobanks, registries, biomarkers, animal models, and clinical trials.
This study used mixed methods research to systematically listen to the CDG community. This is an emerging field of study that combines quantitative (e.g., surveys) and qualitative data (e.g., think tanks, interviews and others) to answer complex questions involving multiple stakeholders. In rare diseases, mixed methods are already being used in therapeutic research.
“Independently of the challenges identified, the CDG therapeutic research has been rapidly expanding in recent years, and the strong proactive attitude towards research, based on inclusive and international partnerships which involves all members of the CDG community, sets the direction for better future therapy R&D”. said Paula Videira (CDG and Allies founder and researcher, board member to APCDG and teacher at NOVA School of Science and Technology).
“This study offers a battery of solutions, and it is highly recommended, that CDG the community builds a coordinated and united research and drug development agenda, to shape drug development”, concluded Vanessa.
Learn more about this publication at bit.ly/3dWwTOg
About CDG
CDG are a group of over 160 inherited diseases that affect glycosylation, a process by which all human cells accumulate long-chain of sugars that are attached to proteins or lipids (fats), essential for many biological functions. These diseases are highly disabling, with a high pediatric mortality rate and a significant negative impact on the quality of life of patients and families.
About CDG & Allies
CDG & Allies are a family-driven international research network dedicated to CDG and related diseases, based at FCT, NOVA University. For more information, please consult: ResearchCDG
About the World Organization for Congenital Disorders of Glycosylation
The World Organization for Congenital Disorders of Glycosylation (WCDGO) is the unified voice of people living with CDG. It aims to transform the world's understanding of CDG and advocate for those living with CDG. WCDGO has a strong, common voice with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for CDG. WCDGO is led and operated on a volunteer basis by the CDG & Allies, and CDG Patient Groups. For more information, please consult: WorldCDG.org
About APCDG
The Portuguese Association for Congenital Disorders of Glycosylation and other Rare Metabolic Diseases (APCDG) is a non-profit organization aimed at promoting innovative research that makes a difference in the lives of patients and their families. The actions of this association are carried out nationally and internationally. For more information, consult: APCDG