Lisbon, 21 September 2022 – A new survey publication, led by CDG and Allies and APCDG provides an overview on what is needed to foster the development and approval of medicines for CDG. Based on 128 respondents, the publication outlines major gaps, notably limited funding for CDG research, has consequences across all CDG drug development.
Most CDGs still lack specific therapies, and treatment is mainly limited to symptom management. Tremendous progress has been made in the management of CDGs. More recently, therapeutic research has been expanding thanks to the continuous efforts of all CDG stakeholders.
“The use of surveys to listen to what matters to a certain community are a valuable source of data and their use is increasing among rare diseases. Since families and professionals are geographically dispersed, these approaches bring the community together and allows us to gather the evidence we need to fight for a better quality of life for CDG”, referred Vanessa Ferreira (CDG and Allies researcher, president to APCDG and sister to a person living with CDG).
"The CDG Community is expanding, new CDG are diagnosed and the number of patients grows. In our study, we used an innovative methodology to gather insights from the CDG community about a key topic: drug development and approval.” said Maria Monticelli, the author of this article.
A total of 46 CDG professionals and 82 patient advocates completed the questionnaire. Enormous gaps for progressing future medicines and therapies are visible, and several solutions are proposed. Learn more about this study.
“Thanks to this study, we can now advocate for more funding for CDG. We can design tailored solutions such as, educational campaigns and materials to drive education among our community about how they can be involved across drug development activities in collaboration with our professionals”, concluded Vanessa.
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