CDG & Allies - Professionals and Patient Associations International Research Network (CDG & Allies - PPAIN) is developing an unprecedented project worldwide, which aims to assess the quality of life of people living with congenital disorders of glycosylation (CDG). The investigation is led by the network researcher Carlota Pascoal.
"I hope that the project will culminate in the adaptation or creation of a questionnaire that is as specific and inclusive as possible, that really responds to the needs of patients and their families, and that, at a later stage, it contributes to the development and approval of therapies for CDG, which is the ultimate goal,” says Carlota Pascoal, also a member of the Portuguese Association for Congenital Disorders of Glycosylation and Other Rare Metabolic Diseases (APCDG) and of the World Congenital Disorders of Glycosylation Organization (WCDGO).
As she explains, quality of life is a very comprehensive concept, which encompasses people's well-being and their health condition, but it is also increasingly important for the approval of drugs, treatments or other interventions under study. “In other words, the quality of life has been a decisive factor for the Regulatory Entities to verify the efficacy of a certain therapy and decide for its approval or not”, says Carlota Pascoal.
Although there are many tools to assess the quality of life of people with and without the disease, the researcher states that, currently, there is no specific tool for CDG, something that she considers a pressing need, namely, in a phase where there are increasingly more clinical trials in this area.
“This project responds to this gap, which we identified in our first publication. We are not going to create a tool, which is a long process and involves a large investment, but we are going to adapt the existing ones to people living with CDG”, indicates Carlota Pascoal.
The first publication is available here: https://cutt.ly/sQvv9Sl
After analyzing the tools applied to hereditary metabolic diseases, the team led by the researcher is currently reviewing the existing tools for assessing the quality of life of people with common/identical symptoms to the manifestations observed in PMM2-CDG, the most common form of CDG. “Afterwards, we will then move towards the development of the PMM2-CDG Quality of Life Questionnaire, thus responding to an urgent need in a fast and innovative way,” explains.
“Nowadays, it is difficult to cover all CDG, given their exponential growth and complexity. However, I think that this tool will be useful for many forms of this family of very rare diseases and that it will be the proof of concept of the potential of this methodology”, finishes Carlota Pascoal.
CDG are a group of 160 inherited diseases that affect glycosylation, a process by which all human cells accumulate long-chain 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 - 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/.
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).