What the CDKL5 Deficiency community can teach us about patient centricity

The first time that I attended a meeting where scientists and patients shared the room was about 12 years ago. It was a small conference on spinal cord injury, and I was an academic postdoc. I remember a man with spinal cord injury, who took the stage and addressed the scientists in the audience. He said “some of you see the glass as half full, and some of you see it half empty. I am here today to ask you that regardless of where you stand on the argument, just grab that glass and do something about it”.

That was my first exposure to an impatient patient.

 Some years later I was a scientist at a pharmaceutical company, and we were asked to present an update on our projects to a panel that included scientists, physicians, investors and also some patients. As they all introduced themselves going around the table with the usual line “I’m Dr X and have a PhD in Pharmacology and blah blah”, they reached the man with Parkinson’s disease. He said “I’m Mr X and 6 years ago I was diagnosed with Parkinson’s disease. I feel I’ve earned multiple PhDs on Parkinson’s by now”. He was very right, he was the most knowledge person in that panel.

That was my first exposure to a patient expert, who knew more about a disease than the biotech investors and the physicians sitting next to him.

Last weekend I attended a Research and Family meeting organized by a rare disease patient organization. As a rare disease scientist and patient advocate, I have attended many of these meetings, yet this was my first exposure to a real patient-centric conference. Anything else I saw before, in those 12 years, was a conference that included patients, often organized by patients, but a complete different beast. Let me explain what I mean by this as I review the 2019 CDKL5 Alliance International Research and Family Conference.



2019 CDKL5 Alliance International Research and Family Conference

In June 22nd and 23rd 2019, the CDKL5 Deficiency Disorder (CDD) patient community got together in Edinburgh, UK, for a joint conference with families, clinicians, scientists and pharmaceutical companies. 

This one is, for me, a very special patient community. A decade ago, most families with a child diagnosed with CDD were told it was an ultra-rare disease and that they were the only one in their country, or one of a handful at most. Today we know that the disease affects tens of thousands of people, and there is an international patient Alliance that includes 17 national patient organizations and a few other parent-led groups. I’ve been part of this community for the past year and a half since I joined the Loulou Foundation.

There were families from most countries in the Alliance present at the Conference, including many bringing their children with them. Scientists, clinicians and company representatives were outnumbered by the families. 

It is only while attending this meeting that I realized that all other patient-organized conferences that I had attended followed one of two formats: 

  1.  Internal (one country) patient organization meetings, where the focus is the organization itself (accounts, the projects that they finance, priorities)

  2. Broader meetings where clinicians offer updates on clinical trials and scientists offer updates on research to an audience of patient families.

This latter type is the most common. Clinicians and scientists often, but not always, dumb down their explanations so that the families can follow, but other than that it is exactly the same thing that you would expect from a scientific meeting. In many cases the agenda is shaped by the medical or scientific advisors from the patient groups. In other cases, it is designed by the patient organization, but it is still very much inspired in the way scientific meetings are run.

Carol-Anne Partridge, CDKL5 UK

Carol-Anne Partridge, CDKL5 UK

But not the latest CDKL5 Alliance meeting… 

The program of this conference was designed by two exceptional people. One is Carol-Anne Partridge, Chair of the host organization, CDKL5 UK, and new Chair of the International CDKL5 Alliance. The outgoing Chair of the Alliance, Rick Upp, introduced Carol-Anne as “one of the 5 Fundamental Forces of Nature” and he is very right. Her stubbornness and determination mean that a meeting organized by CDKL5 UK could not be a conventional meeting.

And Carol-Anne met her perfect match in Philipp von Gallwitz, also a rare disease dad. Philipp is a former pharmaceutical industry professional who now specializes in bridging the patient world and the pharma world. Together they made a program where the focus is on the families attending the meeting, not on the science and clinical presentations. 

Once of the scientists in the room described the conference as “celebrating a birthday, or the New Year”. That is how special it was.


Elements of a patient-centric conference

1. The meeting should have a clear mission which is not to update families on what scientists and physicians are doing

The first page of the conference agenda made it clear that the meeting had a specific purpose, and not just to get updates for the families. It read:

“ The main objective is to support families, physicians and industry get ready for clinical trials. Unless otherwise indicated, all information and discussions shall be such that families can understand and contribute. All sessions shall clarify why the presented content is important for families and what they can do in practice to support. Conference moderation will strive to finish all sessions with specific actions and next steps”

 The purpose of the conference was to work together towards clinical trial readiness, with patients as active members, not passive listeners. We had to come out of that weekend with a list of clear actions and make the most out of the time we were all together. And so we did.


2. The meeting should start and conclude with families on stage

 Right after the host welcomed everyone to the meeting, a mum of a child with CDD explained their story. It was a difficult story for everybody, since she had lost her little boy. It also reminded all why we were in the room: she explained how she shared other families’ pain as if it was her own, and also shared all of their happy moments. That helped us all remember that we are a community and why we were there. 

The last speaker of the conference was a grandfather. He was also a great speaker, and helped us see the impact of diseases even beyond the parents and siblings. As in a good speech, opening and concluding the meeting with a common element helped bookend the conference and close the circle around patients.


3. Prepare your presenters to communicate what is important

Philipp made sure that all presenters were briefed about the mission of the meeting and to coach them and review their presentations prior to the conference. Scientists are often used to giving talks where they want to impress other scientists with their hard work and knowledge. Philipp made sure they knew that despite having more scientists in the room, the target audience were the families and the presentations had to clearly explain the medical problem that they were researching, what they found, what it means to the patients and how can families or the community help them. And to do all this in simple terms.

Asking them to simplify the language was key for the meeting success. For example you might love the word “microtubules”, but it works a lot better if you can talk about “the highways along the neurons” as well as the traffic consequences of the mutation. 

I sometimes find that families are better at explaining medicine than we (scientists) are. A mum explained to me Cortical Visual Impairment (or cortical blindness), a visual problem in CDD kids due to neuronal problems, not eye problems, as “it is as if the TV works perfectly and the problem is that it is plugged into a non-functioning outlet”. I will remember that one. 


4. Use the meeting to build the future: every presentation, panel or discussion should focus on how the patient community can advance the field together with the other stakeholders

Often patient conferences are dominated by scientists and clinicians, with patient families becoming the listener and observer as the professionals explain them what they have been doing “for the patients”. This conference was designed to be different. 

Every speaker was instructed to explain to the families what they might need from them: clinical data, blood samples, funding, feedback on their medical scale….

We had multiple sessions where we discussed how the patient community can contribute to advancing the field and how to work together. For example: how can we ensure that even basic research is relevant to patients, how can the patient community provide sufficient support to researchers and physicians, how can we involve families better in trial design and recruitment, etc

Every session was targeted towards identifying practical relevant priorities, actions, quick wins, strategies…. That focus on actionable elements means we all went home with an entire notebook of actions and that the CDKL5 Alliance will have a very busy year!


5. Maximize the time and opportunities to listen to the patients / families

At the 2019 CDKL5 Alliance International Research and Family Conference there was no audience. There were only participants.

Everybody in that room had multiple opportunities to contribute, whether they were patient families or scientists or company representatives. 

Patient Experience Workshop

Patient Experience Workshop

  1. We had a panel session where the entire room was the panel. We discussed what researchers need from families and what families need from researchers. We learned wonderful things that I’m sure wouldn’t have come up in a more structured meeting. For example I learned that because there are only 6 patient families in Ireland, they felt they were not enough to come together and organize an annual meeting, but ever since there was also a research lab in Dublin dedicated to CDKL5 the families felt it was the perfect reason to come together with the scientists and host their first annual meeting. The academic lab helped create the momentum that the small patient community needed. 

  2. We had a World Café, where all of the participants divided in 4 groups an discussed the main challenges, opportunities and role for patients and professionals in research, development, clinical care and clinical trials. Every single person participated in a brainstorming on each of the 4 topics, and contributed to a list of action items and a roadmap.

  3. We had a patient experience workshop where all families were invited to provide their testimonies on the symptoms and impacts of living with CDD and their hopes and perspectives on treatments. It was shaped as a mini-PFDD meeting, where we only listen to the caregivers in a facilitated discussion, and it was the most amazing experience I’ve had a patient conference. Many of the families also told me how it had been the highlight of the day, and I will try to incorporate similar sessions in future patient conferences. For the industry professionals present at the meeting it was also an exceptional opportunity to learn how to see the disease through the eyes of the patient families, and how different it can be from the simpler clinical description of the disease in medical publications. 

There was truly no audience at this conference, only participants.


6. Incorporate the community leadership

“There are 5 Fundamental Forces of Nature: gravity, weak nuclear force, strong nuclear force, one that I can never remember, and Carol-Anne Partridge”  . Rick Upp, about Carol-Anne Partridge

“There are 5 Fundamental Forces of Nature: gravity, weak nuclear force, strong nuclear force, one that I can never remember, and Carol-Anne Partridge” . Rick Upp, about Carol-Anne Partridge

The CDKL5 Alliance also hosted a closed meeting with all of the representatives from the national CDD patient organizations. Every year, the country hosting the international conference becomes the next Chair of the Alliance. So just as the UK brexits away from everybody else, CDKL5 UK takes the leadership of this exceptional patient community from the previous US Chair. 

The mission of the Alliance is to collaborate and support each other, identify more patients, set up new clinical trial sites and centers of excellence, and overall to support the medical and research community as we progress towards new treatments for the disease. Running an annual international meeting the size of this one is not easy, but it is an exceptional opportunity to bring all of the organizations together under the same roof and keep it together and productive. 

For the CDKL5 Alliance, the new year started on June 23rd, and I look forward to supporting them in these next 12 months.


Final notes

 I personally love family conferences. I love to get to meet many new families and learn from them. I loved meeting Eric, who can’t yet speak or hold his head up but seriously likes traditional Scottish music, and to meet families from my home country. I get frustrated in these conferences at the slow pace of drug development, but I also get much more energized and inspired so the net effect is very positive. 

I used to say that at the patient communities “we set the agenda”. It turns out we didn’t, we were borrowing the agenda from scientific meetings.

Thank you Carol-Anne and Philipp for truly setting up the agenda, and redefining what a patient-centric conference is truly about.


Let me know your thoughts in the comments,


Ana Mingorance, PhD


Image credits: some are my pictures, some are pictures other participants took and shared in social media