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

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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

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Resultados do inquérito da CDG e Aliados exigem ações urgentes de colaboração para superar os seis desafios que impedem uma investigação e terapia CDG mais rápida e eficiente

CDG

Lisboa, 29 de Setembro de 2022 - Uma nova publicação, liderada pelos CDG e Aliados e a APCDG durante a 4ª Conferência Mundial sobre a CDG, utilizou uma abordagem comunitária inovadora e adaptável, e descobriu várias lacunas na Investigação e Desenvolvimento das terapias CDG. No total, foram identificados seis desafios. Este artigo vem acompanhado de várias soluções propostas pela comunidade CDG, e ajuda a definir a direção para mais ensaios clínicos e terapias para a CDG. 

A investigação e o desenvolvimento de medicamentos abrangem várias fases, desde a descoberta precoce de medicamentos até à autorização e monitorização pós-comercialização. 

"As percepções coletivas, experiências e expectativas da comunidade CDG, incluindo famílias, investigadores, e profissionais de saúde, são desconhecidas. A CDG foi descrita em 1980 e, neste estudo, unimos a nossa comunidade, e perguntámos por que razão, 40 anos após a descrição da CDG, ainda não temos mais ensaios e terapias para a CDG?" disse Vanessa Ferreira (fundadora e investigadora da CDG e Aliados, presidente da APCDG e irmã de uma pessoa que vive com CDG).   

As prioridades urgentes destacadas durante este estudo foram biobancos, registos, biomarcadores, modelos animais, e ensaios clínicos.   

Este estudo utilizou métodos mistos de investigação para ouvir sistematicamente a comunidade CDG. Este é um campo de estudo emergente que combina dados quantitativos (por exemplo, inquéritos) e qualitativos (por exemplo, grupos de reflexão, entrevistas e outros) para responder a questões complexas envolvendo múltiplos intervenientes. Nas doenças raras, já estão a ser utilizados métodos mistos na investigação terapêutica. 

 "Independentemente dos desafios identificados, a investigação terapêutica CDG tem vindo a expandir-se rapidamente nos últimos anos, e a forte atitude proativa em relação à investigação, baseada em parcerias inclusivas e internacionais que envolvem todos os membros da comunidade CDG, define a direção para uma melhor I&D terapêutica futura". disse Paula Videira (fundadora e investigadora da CDG e Aliados, membro da direção da APCDG e professora na NOVA School of Science and Technology).   

"Este estudo oferece uma série de soluções, e é altamente recomendável, que a comunidade CDG construa uma agenda coordenada e unida de investigação e desenvolvimento de medicamentos, para moldar o desenvolvimento de medicamentos", concluiu Vanessa

Saiba mais sobre esta publicação em bit.ly/3dWwTOg 

 

 

Sobre a CDG 

As CDG são um grupo de mais 160 doenças hereditárias que afetam a glicosilação, um processo pelo qual todas as células humanas acumulam açúcares de cadeia longa que estão ligados a proteínas ou lípidos (gorduras), essenciais para muitas funções biológicas. Estas doenças são altamente incapacitantes, com uma elevada taxa de mortalidade pediátrica e com significativo impacto negativo na qualidade de vida dos pacientes e das famílias. 

Sobre a CDG & Aliados   

A CDG & Aliados é uma rede de investigação internacional dedicada ao grupo das CDG e doenças relacionadas, sedeada na NOVA School of Science and Technology. Para mais informações, consulte: CDG & Aliados

Sobre a Organização Mundial das Doenças Congénitas da Glicosilação 

A Organização Mundial das Doenças Congénitas da Glicosilação (OMCDG) é a voz unificada das pessoas que vivem com CDG. O objetivo é transformar a compreensão mundial da CDG e defender os que vivem com a CDG. A OMCDG tem uma voz forte, comum com governos, investigadores, clínicos e indústria para promover a investigação, diagnóstico, tratamento e serviços para os CDG. A OMCDG é liderada e operada pela CDG & Aliados. Para mais informações, consulte: WorldCDG.org

Sobre a APCDG 

A Associação Portuguesa para as Doenças Congénitas da Glicosilação e outras Doenças Metabólicas Raras (APCDG) é uma organização sem fins lucrativos destinada à promoção de pesquisas inovadoras que façam a diferença na vida dos pacientes e de seus familiares. As ações desta associação são realizadas a nível nacional e internacional. Para mais informações, consulte: APCDG

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CDG and Allies survey results call for urgent collaborative actions to overcome the six challenges that prevent faster and efficient CDG research and therapy

CDG

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

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CDG and Allies patient-centric survey voice the need for more funding to foster research and drug development for CDG.

CDG

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

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CDG and Allies and APCDG to present posters about therapeutic research and lay language resources driven by CDG families in collaboration with key stakeholders at European Conference on Rare Diseases (ECDR) 2022!

CDG

Lisbon, Portugal 27 June 2022 - The CDG & Allies and APCDG announces presentations at the European Conference on Rare Diseases and Orphan Products (2022 ECRD) of results dedicated to the study of the Immunological involvement in Congenital Disorders of Glycosylation (CDG) using a community-centric approach and several posters dedicated to the current works focused to create resources in lay language, and to make information centralized thanks to https://worldcdg.org/, a web based platform co-created with and by CDG families, to families and related stakeholders.

From 27 June to 1 July, the 11th edition of the European Conference on Rare Diseases and Orphan Products, will mirror current political opportunities and policy milestones and present an opportunity to hear from European and international institutions and key opinion leaders working in the field. This is an opportunity to network and exchange invaluable knowledge with over 1500 stakeholders in the rare disease community – patient advocates, policy makers, researchers, clinicians, healthcare professionals, healthcare industry representatives, academics, payers, regulators and Member State representatives. Those interested can Register now for ECRD 2022. 

What’s so unique about ECRD 2022?

  • Over 250+ innovative posters presenting latest research and projects on rare diseases
  • High-level policy discussions and debates
  • Prominent opinion leaders, policy makers, researchers and patient advocates from all across the world, including dedicated thought leader sessions to tackle some of the biggest rare disease challenges

The data will be shared at the ECDR 2022 Conference as follows:

  • Boosting insights in a rare disease with a community-driven approach: the immunopathology in PMM2-CDG (Reference number: 5 )
  • Empowering CDG families and professionals with an arsenal of educational resources, (Reference number: 160)
  • A grassroots effort to build community practical tools, of the International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) (Reference number: 161)
  • CDG & Allies: Reducing bottlenecks to accelerate access to centralized information about CDG with a community centric biomedical resources approach (Reference number: 162)

About CDG & Allies 

CDG & Allies is a family-driven international research network dedicated to CDG and related diseases, based at FCT, NOVA University. For more information, please consult: https://www.researchcdg.com/

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. WCDGOhas a strong, common voice with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for CDG. WCDGOis led and operated on a volunteer basis by the CDG & Allies . For more information, please consult: https://worldcdg.org/ 

Stay tuned and subscribe to our newsletter: https://worldcdg.org/newsletter-subscription 

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: http://www.apcdg.com/

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CDG Conference accounting with the presence of more than 400 registered participants

World Conference CDG

The Portuguese Association of Congenital Disorders of Glycosylation and Other Rare Metabolic Diseases (APCDG), together with the CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies - PPAIN)  are promoting the 5th World Conference on Congenital Disorders of Glycosylation (CDG), in a digital format from May 13th to 16th, next week. This event is considered the largest event on CDG worldwide, where currently more than 400 participants have registered, including families, professionals and representatives from the pharmaceutical industry.

"The event will be centred on the needs of people living with CDG and their families. Proof of this are the various panel discussions that will take place during the four days of the event. These panels include CDG families, researchers, doctors and the pharmaceutical industry. The organizing body aims to leverage dialogue between these relevant stakeholders. Collectively, they will identify solutions towards answering the needs of families and professionals themselves," says Paula Videira, co-founder and researcher of the CDG & Allies PPAIN network.

As it was stated previously, this initiative aims to identify the primary needs and challenges that CDG families and professionals face nowadays. Moreover, it also intends to address the latest innovations in the field in order to provide adaptive solutions to people living with CDG. The conference will involve the participation of around 120 international speakers from various parts of the world.

Among the various topics that will be addressed in the congress, the results of the international study "CDG Journey Mapping" are one the most highlighted that is being conducted by CDG & Allies - PPAIN. This study aims to classify, identify while searching for solutions for CDG people and families; as well as an overview of dietary and non-dietary supplementation approaches currently under development and clinical trials underway.

Vanessa Ferreira, founder of APCDG and co-founder and investigator of the CDG & Allies research network - PPAIN, adds: "We were scheduling the Conference to take place in a hybrid format. However, due to the pandemic, we decided to secure the digital format.  Thus ensuring the safety of all and guaranteeing that independently of current circumstances, our CDG community can easily get in touch".

"The Conference is much more than an event, it is the sharing of experiences. For many families, it is the light at the end of the tunnel due to the ongoing circumstances in which families and professionals feel alone and isolated. It is also the only event that offers a concrete response to the needs, because of its scope and multidisciplinary", concludes Carlota Pascoal, researcher at CDG & Allies - PPAIN and volunteer at APCDG.

For this congress, 50 posters applied, all of which were considered for Electronic Display. 25 were selected for short oral presentations, and others, due to their relevance, were selected for lectures. 

For more information about the posters: https://worldcdg.org/sites/default/files/2021-04/world_conference_on_cdg_2021_program_20210430.pdf

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