My sister lives with PMM2-CDG, which is the most common CDG type. From a young age I always wanted to help my sister, Liliana, and so when I grew up, I decided to study biology, which led to a PhD in cell biology. During my PhD, I organised a scientific event dedicated to rare diseases. The event was a success: stakeholders from different rare diseases attended, and it really opened my eyes to the potential of working in the field. It was here I realised my unique position as both a scientist and family member; I realised I had the opportunity to bridge the gap between medical researchers and CDG families.
Now knowing how I could best help either my sister and other CDG families, I started to look for associations to connect with. Through the Spanish Association for CDG, we met other CDG families for the first time. It was amazing to be able to share our experiences and challenges. From this meeting, I knew I wanted to be more involved, and in 2010, we officially set up the Portuguese Association for CDG.
My background in science opened the door for me to reach out to other researchers and clinicians and have them listen to what we wanted to achieve; and, as a family member of someone with CDG, there was a personal, meaningful effort behind my research.
Q.What does the World CDG Organization (WCDGO) do as an umbrella organisation?
Currently, the WCDGO is led and operated on a volunteer basis by several members of the CDG & Allies PPAIN which is based at NOVA School of Science and Technology (FCT NOVA).
Having an umbrella organisation gives us a stronger voice to direct research and engage with regulatory bodies and is good for coordinating the work of national patient organisations. By uniting the CDG community globally we are strengthened by numbers that attract pharmaceutical industry interest.
Q. From what I’ve seen of the CDG community, they’re really invested and engaged in research priorities, how have you taken that interest to drive people-centric research?
Through personal experience and anecdotal evidence from other families, we discovered many people were experiencing strokes-like episodes that seemed frequently triggered for example, by fever. Nobody yet understands what is causing these issues and in 2016 there wasn’t much research being done to investigate. To me, as a CDG family member, the research was not meeting our needs, so we identified someone with expertise in immunology and glycosylation and are driving this research. We then, identified many other areas where research did not exist yet or was limited, such as Clinical Outcomes Assessments (COAs) or Patient Preference Information (PPI) studies. We are leading international research projects in these areas. These tools are a “must have” for benefit–risk assessment, Health Technology Assessment, and pricing and reimbursement decisions and they require the voice of people living with CDG and their family members to be integrated at conception. Thus, our research is facilitating and opening avenues for the journey of future and current CDG clinical development programs.
Journey-mapping was another area where there was a lack of robust evidence. Recording the first signs and symptoms, how long a diagnosis took, any misdiagnosis, needs post-diagnosis and disease progression is important to understand where to concentrate research and support. However, this type of research can only be led by someone with a family perspective: someone who has lived this journey.
Through the design of carefully constructed electronic questionnaires we have been able to prove previously written theories and learn a great deal about the diagnostic journey and unmet needs. The data from these surveys allows for tailored solutions for the community.
We have assembled knowledge from 200 families living with CDG utilising digital surveys … family co-creation and participation in these surveys is an essential approach for future research for the CDG community.
Q. As a global project across various geographical boundaries, were there any challenges?
One of the biggest challenges is language barriers; there is a limited amount of funding to translate all resources into every language we would like to. However, we are fortunate to have volunteers, including CDG experts, that dedicate their time to translating to ensure individuals have access to information and are able to participate in our projects.
Q. Following the success of the digital survey, what support do you need to move this research to the next level?
Running alongside our digital survey on immunological issues we have lab-based research to understand more about why these happen. Funding and attracting pharma collaboration is key to our ability to continue this research and bring new treatments to our families.
Whilst pharmaceutical companies have started to take an interest in CDG, we still need funding to have a good global registry. This is an important next step to becoming ready for clinical trials.
We want to do all we can to make sure we are ready to embark with pharma as partners before they set up their clinical development programs.
Q. What would you say to encourage other patient groups thinking about research?
The CDG community have faced many challenges but we have learned how to put innovation, creativity and people at the forefront. Just because the disease is rare is not a reason to not care. I hope others see what we have achieved and believe it is possible for them. We believe that our journey can be transferred successfully for other rare diseases.
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Rare Revolution Editor