World Conference on CDG | a global platform for families and stakeholders
World Conference on CDG: the largest CDG event worldwide
From May 13th to May 16th, 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), held the 5th World Conference on congenital disorders of glycosylation (CDG). The event was hosted virtually by Vanessa Ferreira, president and founder of APCDG and operations team member at the World CDG Organization (WCDGO). “The online option ensures access, equity and inclusion for all participants”, Vanessa explains.
The online option ensures access, equity and inclusion for all participants.
Vanessa Ferreira
This biannual conference is considered the largest CDG event worldwide, with 423 participants from 32 different countries attending. This included families, health care professionals, researchers and pharmaceutical industry representatives.
A space for open dialogue between all CDG stakeholders
The conference provided a platform where all individuals in the CDG community could have their voices heard. There were 22 sessions across 9 main themes with an incredible 18 posters presented. This also included panel discussions from families and stakeholders in an effort to strengthen communication and champion the unity of the CDG community.
The following is an overview of a round-table discussion to identify the primary needs of people living with CDG and their families. The theme of the session was ‘objectives, goals and wishes for CDG’ and all panellists were invited to contribute. It also provided the opportunity for updates on newly established CDG organisations and the latest developments from researchers and international studies.
Objective: disease awareness
Addressing the lack of awareness of CDG, both on an international and local level, was a common goal for families and other stakeholders. A particular emphasis was put on the importance of raising awareness for all types of CDG and not just the most common: PMM2-CDG.
Goal: understanding disease progression
CDG is like a blank sheet of paper, each one draws their life story differently. All are different, regardless of their subtype.
Juliana Ferreira, mother to PMM2-CDG child.
For some CDG current therapeutic and dietary interventions are increasing life expectancy; however, there is little data on disease progression and the related struggles families face as children become adolescents and adults. Understanding the natural history across CDG was highlighted as a priority by both families and researchers.
“Care for adults should be as good as the care for children—this is not always the case”, explains Professor Jaak Jaeken, the first doctor to publish a clinical description of PMM2-CDG.
Wishes: specialist outreach centres and coordination of care
Although an increasing number of CDG specialist centres are being founded around the world, there is still a need for increased specialist outreach services. Families who do not live near a CDG centre shared their feelings of “isolation and a lack of equal access to care”. This postcode lottery places a huge burden on families, and they shared their hopes for more funding to help them with travel costs and medical insurance. This was deemed crucial to enable equitable care for all CDG families.
Sharing information and improving the dialogue between all CDG stakeholders for better coordination of care was also highlighted, and Professor Jaeken stressed the need for “emotional and physiological support” as part of multidisciplinary care.
Objective: education and structures for successful clinical trials
Being informed of and partaking in clinical trials was considered a priority for many CDG families: “It is so important to be involved in clinical trials to improve the quality of life for CDG children”, explains Tata Tsintsadze, founder of CDG Georgia.
It is so important to be involved in clinical trials to improve the quality of life for CDG children.
Tata Tsintsadze, founder of CDG Georgia
From a pharma perspective “access to information and education on clinical trials and research” is considered a high priority by Dottie Caplan, Snr V.P of patient advocacy at Applied Therapeutics. Dottie explained that helping the CDG community feel prepared when a trial is announced will empower individuals to step into the trial process much sooner: “research cannot advance without engagement and participation from the community”.
The importance of a balance between speed and thoroughness was discussed. Structured, people-centred trial design is needed to ensure the best possible trial outcomes. The need to include participants from diverse cultures and geographical locations to take into consideration different genetic backgrounds was also raised.
Goal: driving research through trusted relationships
Building trusted relationships between the community and stakeholders to continue driving research was considered fundamental. Journey mapping, improving diagnosis to identify more patients, and understanding where to direct new research were all highlighted. “We recognise that every piece of information we learn about this disease is precious”, Dr Marc Patterson at Mayo Clinic explains, “we need to find a way to capture this to benefit the whole community.” Dr Patterson discussed the need for an international database driven by the families which includes data from both medical professionals and families. The doctor believes that having this database will help uncover information on research gaps, for example, why CDG causes brain malfunctions. “We need to start treating causes, not symptoms”.
We recognise that every piece of information we learn about this disease is precious.
Dr Marc Patterson
The study ‘CDG Journey Mapping’, which aims to learn about the journey of people living with CDG and their families hopes to support these goals.
More than just an international meeting: “genuine friendships and collaborations are made.”
The relevance of the World Conference on CDG to ignite international collaboration and multidisciplinary work was noted by researcher Ivan Martinez Duncker: “Sometimes in our own countries we are not heard enough”, he explains, “we need to start thinking outside of our countries and make global efforts.” The conference highlighted the consensus for enhancing open communication with all parties. It evoked unanimity on the critical importance of, firstly, active family engagement and education at each stage of CDG research, and secondly, the role patient advocacy groups play in unifying and educating the community. There was abundant respect and appreciation from pharma industry representatives, clinicians and researchers for the ongoing support and involvement of CDG families.
This event symbolises support, strength, hope and friendship.
Paula Videira, co-founder and researcher at CDG & Allies – PPAIN network
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