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CDG & Allies – PPAIN: a people-orientated research method to turn families’ needs and ideas into scientific projects

Rita, a PhD researcher of congenital disorders of glycosylation (CDG), spoke with us about her involvement in people-centric research with the CDG and Related Disease – Professionals and Patient Associations International Network (CDG & Allies – PPAIN), founded by the Portuguese Association for CDG (APCDG). The people-orientated initiative is run on a volunteer basis to turn families’ needs and ideas into projects for scientific investigation with world-recognised researchers and clinicians. 
Rita
Identifying a gap in CDG research by listening to the community

Rita first contacted CDG & Allies – PPAIN, based in the Department of Life Sciences of the Science and Technology faculty of the Nova University in Lisbon, Portugal, in 2016. Through listening to the community needs, namely to families of individuals with CDG and to professionals working on CDG, Rita identified a gap in CDG research in the involvement of the immune system in CDG. Rita’s PhD research focuses on whether CDG patients have an increased susceptibility for infections or other immune-related manifestations. With infections often causing serious complications for individuals living with CDG, she hopes her research will help families manage these complications and minimise their severity. 

To better understand the extent of the complications and the frequency of infections in individuals living with CDG, Rita’s research involved families and patients from the beginning. Because the information was invaluable, the families and individuals living with CDG were kept fully involved in the research at every stage. 

Ensuring diverse perspectives and people-driven values

To better involve all individuals in the research, two advisory committees were established; one advisory committee composed of CDG families, and another for professionals with varying backgrounds to bring together their different perspectives and expertise. Following the establishment of these committees, all members were seen as official team members and were subsequently involved and consulted equally. A strong emphasis on the value of interaction between both committees enabled a powerful, united CDG community and successful research collaboration. 

A final product that is both scientifically accurate, but also goes in the direction of meeting the needs and the understanding of CDG families, was always fundamental in our project.

Rita
Building a study to reach a global community 

To reach a vast geographical spread of individuals, an electronic The Immunology and CDG Questionnaire (ImmunoCDGQ) was developed so that it could be distributed digitally around the globe. As families usually visit their general practitioners and are not referred to an immunologist for CDG, data about immune-related manifestations is scattered. Therefore, the questionnaire was directed to those who centralise the data: CDG families. 

There is a broad range of health literacy across CDG families, so it was vital to the study’s success that the questionnaire used as much plain lay language (an inclusive writing style oriented towards a lay non-scientist audience)1 as possible. To achieve this clarity, the family advisory board provided critical insight into how doctors communicate information to CDG families. This was helpful with wording questions using terminology participants were more likely to be familiar with. The clear language also meant the questionnaire was easier to translate into multiple languages. 

A successful communication strategy for research

Around a year before the launch of the questionnaire, the project was being discussed with the community through campaigns and conferences. To diversify the formats in which the information about the project was communicated, a mixture of videos, presentations and detailed documents was available.

Information on the topic research was also presented through the creation of different media:

  • ​a series of glossaries
  • ​a short, patient-friendly booklet on immunological involvement in CDG
  • ​and social media campaigns, such as “10 days 10 CDG immunology facts”

The information on the topic meant families were able to familiarise themselves with terms relating to immunology before the questionnaire was launched. As the survey was digitally distributed, participants did not have immediate access to ask questions as they would in a face-to-face survey, so the information supplied to the community included various theme-specific glossaries and other tools to help them to fully understand the questionnaire language. This allowed participants to feel confident to fill out the questionnaire without the assistance of a third party. 


The survey was distributed through email, social media and web-based platforms, including RareConnect. A website was created for the study to centralise all resources and information on the project. 

The power of communication

Rita accredits the communication strategy before and after the questionnaire launch as a key factor to the success of the study: it ignited interest in the project and helped the community understand the significance the research findings could have. Another factor boosting participation was the range of distribution methods used to reach families with different digital preferences. ”Recognising the diversity that exists within the CDG community, we wanted our communication strategy to meet this need.” Rita explains. 

It was also vital to Rita and the team that they reported back to the community regularly on their findings. 

It is fundamental to generate trust in and awareness of research and it is important to diversify outside of traditional scientific communication channels to achieve this.

Rita
Study results confirm literature and uncover novel research avenues 

There were 209 participants included in the study. Included in that figure, 122 of the participants had the most common CDG type, PMM2-CDG. With an estimated 1200 patients living with PMM2-CDG worldwide, the study captured 10% of the worldwide population. This makes this study the largest ever published on PMM2-CDG, reflecting its huge recruitment success. 

“We were able to collect data that confirms literature data that goes back two to three decades,” Rita explains. 

Something that came out of this project was the interplay that seems to exist between the immune system and the gastrointestinal (GI) tract in PMM2-CDG. Infections affecting the GI tract are really the ones that stand out in terms of prevalence and severity.

Rita

This research finding was the “highlight in terms of scientific medical conclusion” and is something that is being worked on to further unravel the findings. Read the full paper here.

Next steps for CDG research

Rita’s research is complementary with a colleague’s research who is also doing their PhD on CDG. Her colleague, Carlota Pascoal, is also exploring immune-related manifestations of CDG; however, unlike Rita’s research, Carlota’s is lab-based, working with patients’ samples to see how they respond to infection stimuli. The two researchers now want to establish collaborations with other CDG researchers, particularly those who have the expertise to lead the research on GI symptoms in CDG. They are currently applying for funding and assembling a team to drive the research findings forward.

What advice would you give to other patient groups who are thinking about undertaking their own research study? And to researchers wondering if they could or should include patient groups/communities in their research?

Talking to the rare disease community and finding out their concerns and needs is vital to find a meaningful research area to study, Rita explains. Rita believes that it is “very possible” for patient groups to undertake a research study within their disease communities using the same methodology used for her study. Rita’s first advice would be for patient association to clearly identify research as one of their priorities or areas of action and, thus, incorporate boards or governance people who can provide support. Following this, it is crucial to identify your allies, those who believe in this methodology, and assemble a team of people on the same wavelength. Once you have a research area of focus, collaborating and finding a researcher or research group that wants to work on your specific disease is best achieved by collaborating with a university where scientists are often doing their PhDs, Rita explains. 

In the future, Rita hopes to see more patient associations who fundraise and donate to a research team or a specific project be more involved and informed in the research they help to fund: 

I think if patient associations are helping to finance research, they should demand to be more involved and more informed on the research progress and findings. It’s not just the money that they can bring in, they can bring in much more; they are an added value and should be seen as such.

Rita

As for researchers, Rita hopes that her work and the work CDG & Allies -PPAIN has been leading can stimulate other researchers, particularly in the biomedical field, to explore people-centricity and adopt this principle from ideation to co-development of clinical programmes and regulatory activities. Rita expressed that: ”Involving families and people living with a disease is not only possible, but it is, in fact, a solid way to produce novel research findings. It is a way to promote health and science literacy as well as to improve research transparency. While this pandemic has shown us how much the world needs scientific advances, it has also clearly underlined that people need to understand and trust scientific discoveries to effectively adopt them. People-centric research does that – it generates trust!” 

​For a deeper dive into this published research “New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach”, click  HERE for the lay friendly video abstract and HERE for the full paper ​.

You can also access additional materials created about the project HERE.


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