According to Vanessa Ferreira, founder of APCDG and co-founder and researcher of the research network CDG & Allies – PPAIN: “CDG clinical trials are complex and not accessible to the general public, which is why we consider extremely important to clarify some concepts.”
And she adds: “Access to health information makes people more autonomous in relation to their health and to the health of those around them. In this sense, we produced a set of educational materials, such as videos and infographics, in order to simplify the scientific language of the CDG, which is mostly complex to decode.”
Educational materials are available here: https://worldcdg.org/resources
Also with the aim of improving the quality of life of those living with CDG and identifying their main needs, the second phase of the international study “CDG Experiences over time from families and professionals views”, aimed at CDG families and professionals, is underway. Only through these different perspectives is it possible to offer an answer adapted to the needs of all those living with these diseases.
CDG are a group of 150 hereditary disorders that affect glycosylation, a process by which all human cells store long-chain sugars that are linked to proteins or lipids (fats). This is an essential process for several biological functions. These disorders are highly incapacitating, with an elevated pediatric mortality rate and with a very negative impact on patients and families’ quality of life. CDG are a family of rare disorders, being PMM2-CDG the most common type, with an estimated incidence of 1 in each 20 thousand people.
The Portuguese Association for Congenital Disorders of Glycosylation and Other Rare Metabolic Diseases (APCDG) is a non-profit organization dedicated to 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: http://www.apcdg.com/
The World CDG Organization is the unified voice of people living with CDG. The goal is to transform the world's understanding of the CDG and advocate for those living with the CDG. The WCDGO has a strong, common voice with governments, researchers, clinicians and industry to advance research, diagnosis, treatment and services for CDG. WCDGO is led and operated by the CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies PPAIN).
About CDG & Allies PPAIN
CDG & Allies PPAIN is an international research network dedicated to the group of CDG and related diseases, based at the NOVA School of Science and Technology. For more information, consult: https://www.researchcdg.com/.