#CDGAwareness

Lisbon, 22 November 2022 – Today, CDG and Allies is proud to share that new easy-to-read, lay language content and resources addressing relevant CDG topics is now available! The new webpages will help families to get information regarding what is CDG, diagnosis, care, treatment, and support from patient groups, advocates, and professionals.   

Several recent publications from CDG and Allies show that finding accurate and reliable information about CDG among the millions of online sources is a difficult task for almost everyone.   

“In a heavy technology society, the internet provides access to information in a way unimaginable 50 years ago. Creating and ensuring access to information is a priority for CDG and Allies. Therefore, https://worldcdg.org/ centralizes access to information and improves communication around CDG, helping families to have a proactive attitude towards healthcare decision-making and research participation“ said Vanessa Ferreira (sibling to a person living with CDG and researcher and co-founder at CDG and Allies and Portuguese Association for CDG).   

“This project involved almost 40 people, that dedicated many hours. For example, there are webpages whose content took 150 hours to be created, 80 hours to revise, and another 70 hours to upload. But we are very grateful to all motivated people that devoted time to make it possible.”, continued Vanessa.  

The team coordinated by Vanessa Ferreira, was composed of researchers from the CDG and Allies International community-centric network, reference CDG experts and almost 30 volunteers from the Sci and Tech Volunteer Program 2020 from NOVA School of Science and Technology (FCT NOVA). Altogether, have been involved since the end of 2020 in creating non-technical language content about CDG, research being conducted, and other topics of interest to encourage active use of this platform. On some occasions, the curation of content from reliable sources was considered transferable for CDG educational purposes.  

“Education about CDG is vital. The internet can be a great resource. Although, access to easy-to-read, lay language content and resources in the field of CDG is limited and hard to find. Now we hope that this empowering, people-centric platform can help many families and professionals” said Rosália Félix (mother to a person living with CDG and co-founder of Portuguese Association for CDG).

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: CDG & Allies

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: WorldCGD.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

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

Dr Stepahnie Grunewald is THE CDG Medical Expert in the United Kingdom. She explains how is her flow of the diagnosis of a CDG and the patient follow-up and shares how she sees the future of the CDG diagnostic landscape.

She gives us HOPE!

💚CDG: A Community of HOPE!💚

Our interview today features Carlota Pascoal, an extremely motivated researcher and patient advocate for CDG.

She will tell us about the main goals of the international network CDG & Allies-PPAIN which is aimed at promoting CDG awareness and research and also educating and empowering #CDGpatients and their families.

She gives us HOPE! 💚

📣 World CDG Organization Newsletter: 2nd EDITION is out!

‼️ Read All about it HERE  ‼️

Share. Unite. Empower2Act

🗣️ Would you like to be a CDG Voice in the World ??           #CDGWorldVoice

👨‍🔬👩‍🔬 Do you have any important research highlights? 

💚 Is your CDG patient association promoting a initiative? 💚

💚 Do you want to share your personal CDG story? 💚

Write to sindromecdg@gmail.com and we will include your exciting news in the next edition (January 2021).

💻 Please send word until 5 January 2021

CDG Therapeutic Trials:  An expanding world of therapeutic opportunities

Two years have gone by since the publication of the review paper "CDG therapies: From Bench to Bedside" and fortunately the number of clinical trials and therapeutic developments for CDG have been on the rise.

For this reason, we have decided to provide the CDG Community with an up-to-date list of CDG Therapeutic Trials available HERE

In case you missed it on the 6^th of November…

“CDG: A global Overview” Webinar in Portuguese is now available on YouTube!

In this 1^st Edition the Brazilian Association for CDG brings us speakers Dr. Kimiyo Raymond (USA), Dr. Jaime Brum (BR), Dr. Vanessa dos Reis (PT) and Dr. Charles Lourenço for an exciting talk!

Watch it here:

https://youtu.be/9RNyLvcBAXU

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💚CDG: A Community of HOPE!💚  

Today, our interview features Julie Bonache, a CDG Mom behind the French association for CDG "Les P'tits CDG". She shares how the CDG diagnosis changes her life and explains which are advantages of belonging to a patient group.

She gives us HOPE!💚

#CDGCommunity #CDGDiversity #RareNotAlone

Congenital Disorders of Glycosylation (CDG) are caused by defects in the cellular machinery responsible for making and altering sugars and attaching them to proteins and lipids. There are over 140 different CDG types.