Rare revolution magazine

From Patients to partners: the role of patients in advancing clinical development for rare diseases

Written by Silvia Cerolini, chief executive officer, and founder, Eyes on the Future
July 2023

Silvia Cerolini is the CEO and founder of Eyes on the Future, a not-for-profit organisation accelerating treatment for inherited retinal diseases (IRDs). She believes that academics and industry need to change the way they think about patient organisations to accelerate drug development for rare diseases.

I am writing this piece on a long flight from London to New Orleans. This is my first time attending the ARVO (Association for Research in Vision and Ophthalmology) annual meeting, the largest eye research conference joined every year by thousands of scientists and professionals. In two days, I will be sharing a case study of patient-driven multistakeholder collaboration to accelerate treatment for the rare eye disease affecting my nine-year-old daughter, Vicky. The case study was co-developed with some of the most prominent scientists in the field of inherited eye diseases and selected among thousands of submissions.

I cannot help but think about how far we have come from that day seven years ago when Vicky was diagnosed with Leber congenital amaurosis due to gene RDH12, a rare and untreatable inherited retinal disease (IRD). I still vividly remember the optometrist’s words in a small room at the Great Ormond Street Hospital in London. Vicky was standing next to me and jumping up and down, as you would expect from a lively two-year-old girl, as I heard:

" there is something wrong with Vicky's eyes", "there is nothing you can do" and "she is slowly going blind".
Silvia Cerolini

I was pregnant at that time, so feared for my unborn child too. Little did I know that Mendel’s genetics principles would play out better for my son than for my eldest daughter.

" In contrast with the vivid memories of the day of the diagnosis, the next six to nine months are a complete blur. Shock. Despair. Fear. It is hard to describe. Every time I looked Vicky in the eyes, I would think about all the things she would not be able to see as she grew up."

I cannot pinpoint the exact moment when something inside me clicked and I made the personal commitment to do everything I can to help her see the world for longer. I could not just wait until her disease progressed into full darkness. I had to do something about it. And off I went, reading every single article ever published, reaching out to experts, making connections.
Rare Disease. Gene therapy. Clinical development. Blindness. Coming from the consumer product goods corporate world, these words were completely alien to me. I can hardly believe how much they have come to characterise my life today as a rare disease patient advocate (or better, patient partner).

As I reflect on my journey, I can vividly see the evolution of our work. From the early days as “naive” patients reaching out to doctors, to the multistakeholder network we have created now and the indispensable role pushing forward the research for Vicky’s condition; our very first clinical trials are expected in the next 12 months.

From patients to advocates to partners: the critical roles of patients in drug development

Patients have several critical roles in the timely development of drugs for rare diseases. Most obviously they are needed for clinical trials, so an educated patient community is indispensable. We have made it a huge priority to bring together the global community of patients affected by Vicky’s inherited retinal dystrophy. The more we can show that patients are ready to join the clinical trials, the more we can motivate the industry to develop a drug for our community. Over the years, I have reached out to local organisations and scoured the Internet and social media groups. We now have more than 250 patients worldwide from over 20 countries, from Argentina to Cyprus, from Canada to India, from Chile to China. We help them all access information and we remove language barriers so they can do so. We connect on a six-monthly basis for virtual conferences and we communicate regularly via email and social media. We have also recently launched a patient registry.

" But seeing us as "just" a community of patients is only scratching the surface. Patients are the indispensable advocates for treatments for rare diseases. Over the years our RDH12 global alliance has raised over three million dollars to support breakthrough research on RDH12 IRD, including disease models, natural history studies and small molecules screening."

With the funding we are seeding science leading into the publication of several scientific papers and, most importantly, progress towards a treatment. The gene therapy treatment now close to a clinical trial has, in fact, also been supported by funding from our patient community. All our funding comes from grassroots fundraising with our community sweating over running marathons and organising gala dinners and sport challenges. Over the years our efforts have been featured in international press from the BBC to Vanity Fair and many more.

Unfortunately, however, too many academics still see patient organisations as a mere patient community or provider of funding and grants. Patients must be considered true partners, intimately involved in every step of clinical development. We, as patients, are uniquely placed to make things happen that otherwise would have not happened. We do things nobody else in the field–including scientists and experts–could do. We may come from different backgrounds. We may not fully understand the science. But we have our own professional and personal experiences, skills and connections. Patient organisations bring diversity and new thinking helping to break the silos and bring people together.

Breaking the silos and bringing people together

One of the first things I did as an advocate was commissioning a large landscape review of Vicky’s eye condition. The landscape review included everything ever published on RDH12 IRD and included the perspectives of key global experts (gathered through many interviews). What started as an exercise for us to understand more about the condition ended up becoming an indispensable resource that lays out the research status and priorities for anybody doing work on the condition. The document ended up being published and praised by even the most knowledgeable researchers in the field.

Shortly after publishing the landscape, we had the idea of bringing together all the key stakeholders (patients, clinicians, industry, regulators) in a workshop to discuss the key barriers to clinical development and define a road map. Convincing key stakeholders about the value of a workshop took more than a year- after all, I was just a mum wanting to fly 35 or so people across the globe to talk about her daughter’s rare disease. But our first RDH12 scientific workshop in 2019 ended up being a huge success that was then replicated by several other patient organisations in the rare eye disease field.

Building on the success of the 2019 workshop on RDH12, we then ran a second scientific workshop in 2022 to tackle one of the most critical aspects of drug development: the definition of trial end points and outcome measures. The workshop helped to align shared considerations on clinical trial end points that are relevant not only for RDH12 but across inherited retinal diseases. Sadly endpoints are often chosen with little input from patients living with the condition. New tests are developed but patients are brought in only at the clinical validation phase instead of involving them in co-creation and user testing.

The challenge to academics and industry: embrace patients as partners

These are only a few examples but there is a lot more that patients do which directly drives clinical development. Bringing together global patient data to better study the condition. Influencing policies and regulations. Creating non-competitive environments for innovation to truly flourish. Reinventing the value chain to make rare disease treatments a more commercially sound proposition.

On our side we are working on all of these and a lot more. Our first clinical trials are getting closer, but the journey ahead is still long for our disease and for many others. Life as a patient partner is full of ups and downs. We live with a constant sense of urgency. “Are we doing enough?” “What more can we do?” “How can we move faster?”

But despite these and many more examples, too often patient-centric and patient driven are just buzz words in the drug development industry. Too often, patients are still overlooked by the research community. Seen as “just” patients. Looked down by those same people that should help us.

I therefore challenge every academic and every industry player to embrace patients as partners in drug development. Give us a seat at the table. Involve us in key decisions about our disease. Engage us in a two-way dialogue. Let us do our magic. We can be the secre asset to unlock better and faster drug development for rare diseases.

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