CDG Stakeholders

Preparations for the largest CDG community-led conference kick off with a call for help to build the agenda you wish!

You can now select the topics for the sessions of the upcoming 6th World Conference on CDG (Lisbon, 21-23 July 2023), HERE

Lisbon, 30 September 2022 - The World Conference on CDG will be hosted on 21-23 July 2023, in Lisbon, Portugal. This event fosters and strengthens community-centric programs that empower all stakeholders to promote and speed up CDG drug development. The Conference aspires to build a coordinated research and drug development agenda strategy that will help CDG families and professionals accomplish meaningful goals.

Recent research by CDG and Allies revealed that CDG families face disparities in diagnosis, care, access to information, and therapies due to funding, ethical, and legislative difficulties. Overall findings suggest establishing and strengthening a community-centric strategy for CDG drug development that supports active engagement from all stakeholders.

“The development of research and medicines in CDG needs a collaborative, coordinated, and comprehensive framework, that can only be done with all stakeholders in one room. This is the only way to reduce existing inequalities and ultimately will improve the health outcomes of people living with CDG”, said Vanessa Ferreira (CDG and Allies researcher and co-founder, president to APCDG, and sister to a person living with CDG).

Currently, EURORDIS and NORD are leading policy efforts to ensure rare diseases like CDG aren't overlooked. EURORDIS launched Europe's Action Plan for Rare Diseases a new European strategy for rare diseases that sets overarching objectives, priorities, and milestones and connects areas like rare disease research and innovation, national health system effectiveness and efficiency, cross-border cooperation, and patients' human rights.

“If we are united and coordinated as a community, we certainly can benefit from the outcomes of such an action plan for Rare Diseases” concluded Paula Videira (CDG and Allies researcher and co-founder).

Learn more about the challenges and potential solutions faced by the CDG community, at in our section dedicated to share articles, HERE

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

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

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