Photo Courtesy of Children’s Tumor Foundation | End NF
Patient engagement in medical research is increasingly recognized as an important component of the research process and promises to accelerate the development of new treatments by focusing researchers on real-life issues that they may not have otherwise considered.
The Children’s Tumor Foundation Patient Representative Program is designed to prepare individuals with neurofibromatosis (NF for short) and their families to participate as advocates in the research process. Our goal is to help patients learn how to add their perspective during all phases of the research process—from the laboratory, to the clinic, to the community. Patient representatives are trained to work with stakeholders such as researchers, research institutions, the pharmaceutical industry, the Food and Drug Administration, and patient advocacy organizations.
In this role, patient advocates can have consequential influence over NF research and accelerate the development of treatments to the market, never more so than when a delegate of NF patients addressed the U.S. Food and Drug Administration (FDA) in the first-ever NF listening session.
In June 2019, a group of NF patients met with representatives from multiple centers at the FDA to share their perspectives on disease and treatment burdens, impact on daily activities, quality of life, and priorities to consider in medical product development programs. The objectives were to inform regulatory decision-making, educate review staff about NF, help patients understand the FDA’s mission and work, and provide a starting point to inform research and development.
“The role played by patient representatives has drawn our attention to some of the most important problems faced by NF patients,” said Antonio Iavarone, MD Professor of Pathology and Cell Biology and Neurology Columbia University. “We are strongly convinced that the continuous interaction between scientists, physicians, and patient advocates will help us immensely to focus on the key unsolved issues on which we should direct our research efforts, in order to build tangible benefits for patients affected by neurofibromatosis.”
The following year, in April 2020, the FDA approved the first-ever treatment for a specific type of neurofibromatosis type 1 (NF1) tumor, inoperable plexiform neurofibromas. Koselugo (selumetinib) was based on early research funded by the Children’s Tumor Foundation.
In addition to NF research, patient engagement extends to patient representatives in clinical care. NF patients Alwyn Dias and Dale Berg both sit on the Clinical Care Advisory Board (CCAB), a board established by the Children’s Tumor Foundation to improve the clinical care of patients with all forms of neurofibromatosis. One of the most consequential recommendations made by the CCAB was the establishment of the NF Clinic Network, a network of dedicated NF Centers to improve access to specialized care around the United States.
CTF Europe extended the reach of the CCAB with the European Reference Network, a resource pool of expert patients that facilitate reciprocal communication and collaboration with the NF research community. Nearly 100 peer-reviewed clinical centers are located around the U.S., Canada, and Europe.
In their role as patient representatives, Alwyn, who lives with NF1 and Dale, who lives with schwannomatosis, are able to offer their unique perspectives and represent the patient voice on matters related to patient clinical care best practices.
Patient participation is not limited to the United States, though, and CTF is accelerating the path to clinical trials and approved treatments on a global stage. This includes the aforementioned European CCAB and European Reference Network, plus EU-PEARL (a unique strategic partnership between the public and private sectors to shape the future of clinical trials and enable patient-centric drug development in Europe), INTUITT (an innovative platform trial evaluating multiple treatments simultaneously), and the global NF Registry (the largest self-reported cohort of people with NF, now available in English, Spanish, French, Italian, Portuguese, and soon German).
One final way to represent the patient experience is utilizing the megaphone that social media affords all of us. Despite incredibly difficult struggles, including partial hearing and vision loss, Camille Thoms, a young woman who lives with neurofibromatosis type 2 (NF2) has captured the emotional rollercoaster of living with NF2 through her writing. Her beautiful and courageous spirit shines through in her poems, excerpted here. She has moved many to support the Children’s Tumor Foundation’s mission to drive research, expand knowledge, and advance care for NF patients, fostering our vision to end NF.
Sometimes I don’t want
to talk about it…
Sometimes I do…
Sometimes I want
to talk about it…
But not with you.
Sometimes my head screams
I just want to yell into the void
When things get all foggy
and dizzied
And I can’t do the things I enjoy
No, sometimes it’s better not to tell you
Because I tell you too much
I worry you’ll always think I’m suffering when I’m not
So I want someone to see
What it’s like being me when I’m broken, weak, and down
I’m not always a positive person
That I’ve build my facade around
I cry real tears
I spit fire from my tongue
Yelling at something I can’t see or someone
Now I’m not mad at anyone
My only grievance is this
Why the hell do I have to struggle with this thing I can’t fix
The rest of the poem can be viewed at ctf.org/camille.
In all these different ways, patient advocates are a network of patients and caregivers devoting their time, talent and experience with NF to help accelerate research and raise awareness. Their collaboration with researchers and other drug development stakeholders as advisors, mentors, and co-investigators help these experts understand what it’s like to live with NF and what outcomes are important to patients. All of this fosters the vision of the Children’s Tumor Foundation: to end NF.
To learn more, visit ctf.org or ctfeurope.org
About EU-PEARL
Driving the first-ever public-private partnership for NF research in Europe, the Children’s Tumor Foundation co-leads the NF world package in EU-PEARL (EU Patient-Centric Clinical Trial Platforms), a €26 million IMI (Innovative Medicines Initiative) -funded collaboration among European academic and industry leaders in NF. This exciting multi-stakeholder project will provide the framework for designing and executing cross-company Integrated Research Platforms.
About the NF Registry
The NF Registry is a patient-driven resource for accelerating research and finding treatments for all forms of neurofibromatosis (NF). Sponsored by the
Children’s Tumor Foundation, the NF Registry is a safe and effective tool to empower NF patients and their caregivers by inviting them to take an active role in advancing NF research.
Information in the NF Registry is used for only two purposes:
- Communicating with patients about news and clinical trials
- Providing qualified researchers a summary of anonymous patient data about NF symptoms
The Registry now has over 10,000 participants. The more people that participate, the greater the impact will be on the health and well-being of individuals living with NF, and the more likely it becomes to find patterns that explain why NF is different for everyone and what that means for treatment. In addition to English, the NF Registry is available in Spanish, French, Italian, and Portuguese, translated in collaboration with LINFA, GER-NF, APNF, and Nothing is Forever.
Clinical Care Advisory Board, United States
Chair
- Scott Plotkin, MD,
PhD (Massachusetts
General Hospital)
Patient Representatives
- Alwyn Dias, MSW, ACC (NF1)
- Reema Bogin (NF2)
- Dale Berg (Schwannomatosis)
CTF Staff
- Pamela Knight, MS
- Heather Radtke, MS, CGC
Council Members
- Oliver F. Adunka, MD, FACS (Ohio State University)
- Jaishri Blakeley, MD (Johns Hopkins University)
- Gary Brenner, MD, PHD (Massachusetts General Hospital)
- Jan Friedman, MD, PhD (University of British Columbia)
- Jennifer Janusz, Psyd,
ABPP-CN (Children’s Hospital Colorado) - Justin Jordan, MD, MPH (Massachusetts General Hospital)
- Bonnie Klein-Tasman PhD (University of Wisconsin-Milwaukee)
- Laura Klesse, MD, PhD (UT Southwestern Medical Center)
- Tena Rosser, MD (Children’s Hospital of Los Angeles)
- Pamela Trapane, MD, MME (UF Health Jacksonville)
- Kaleb Yohay, MD (NYU Langone Medical Center)
Clinical Care Advisory Board, Europe
Chairs
- Pierre Wolkenstein, MD,
PhD (Hopital Henri-Mondor, Paris, France) - Rosalie Ferner, MD (King’s College, London, UK)
Council Members
- Amedeo Azizi, MD, PhD (Medical University of Vienna, Austria)
- Ignacio Blanco, MD, PhD (Germans Trias Hospital, Barcelona, Spain
- Gareth Evans, MD (University of Manchester, UK)
- Said Farschtschi, MD (University Medical Center Hamburg-Eppendorf, Germany)
- Shruti Garg, MBBS, MRCPSYCH, MMEDSCI, PhD (University of Manchester & Royal Manchester Children’s Hospital)
- Michel Kalamarides, MD, PhD (Pitie-Salpetriere Hospital, Sorbonne University, Paris, France)
- Eric Legius, MD, PhD (University Hospital of Leuven, Belgium)
- Viktor-Felix Mautner, MD, PhD (University Medical Center in Hamburg-Eppendor, Germany)
- Rianne Oostenbrink, MD, PhD (Erasmus MC, Rotterdam, The Netherlands)
- Laura Papi, MD, PhD (University of Florence, Firenze, Italy)
- Juha Peltonen, MD, PhD (University of Turku, Finland)
- Sirkku Peltonen, MD, PhD (University of Gothenburg, Sweden)
- Scott Plotkin, MD, PhD (Massachusetts General Hospital)
- Cornelia Potratz, MD (University Medicine Berlin, Germany)
- Cecilie Rustad, MD (Oslo University Hospital, Norway)
- Eva Trevisson, MD, PhD (University Hospital of Padova, Italy)
About NF
NF is short for neurofibromatosis, a group of genetic disorders that cause tumors to grow on nerves throughout the body. One in every 3,000 people is born with some type of neurofibromatosis or schwannomatosis, which may lead to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain, or cancer. NF affects all populations, and while there is no cure yet, the Children’s Tumor Foundation mission of driving research, expanding knowledge, and advancing care fosters our vision of one day ending NF.
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