Patient-led organisations are transforming care for rare skull base tumours by connecting patients, clinicians and researchers to accelerate diagnosis, support and scientific progress.
Askull base tumour diagnosis is a difficult time for any patient, but it is made more uncertain by the rarity of many tumour types at this subsite. This scarcity of cases means few clinicians have extensive experience treating them, and research is often dispersed across multiple disciplines and countries. Two patient-driven organisations, the Chordoma Foundation and SMARCB1 Hope, have been addressing these challenges by uniting communities, advocating for patients and advancing scientific understanding.
Patients are the driving force behind the Chordoma Foundation’s progress.
The Chordoma Foundation: from kitchen table to international network
The Chordoma Foundation was founded in 2007 by Josh Sommer after his diagnosis with clival chordoma when he was a freshman at Duke University. With almost no resources available, Josh and his mother, a physician, pieced together a care pathway themselves. He also realised there was no coordinated effort to advance research or care – a gap that convinced him a central organisation was urgently needed to drive progress.
Today, the foundation focuses on three areas: research, patient services and healthcare improvement. “Our mission is to lead the search for a cure and improve the lives of those affected,” says Shannon Lozinsky, Director of Patient Services. “We want to make sure that wherever a patient is in the world, they have access to accurate information, specialist care and the hope that research is advancing.”
To accelerate progress, the foundation runs its own research lab and manages a global research programme. This includes establishing and sharing disease-specific cell lines and models, spearheading collaborative projects, and funding clinical trials aimed at bringing new therapies to patients. The foundation has also been instrumental in the creation of the Chordoma Global Consensus Group, whose treatment recommendations have been adopted internationally.
Doctors, researchers and patients come together at an international conference hosted by the Chordoma Foundation.
One hallmark of the Chordoma Foundation is its patient navigation service, which provides personalised guidance and connection to specialist centres. With thousands of patients and caregivers linked in, and a network of international ambassadors, the organisation ensures patients worldwide have access to expert information and peer support. “Just answering the phone and saying, I understand and can help, can be a lifeline for a patient,” Lozinsky explains. “Sometimes our role is to reassure them that they are not alone and that their next steps can be more certain.”
The foundation also works closely with clinicians. By joining the foundation’s public directory of experienced providers, doctors enable chordoma patients to find their care. Clinicians also have access to treatment guidelines, as well as opportunities to collaborate with peers and stay up to date on the latest research through research workshops and multidisciplinary meetings. “We encourage clinicians to reach out to us when they see a chordoma patient,” says Lozinsky. “Even if they’re confident in their treatment plan, a second set of expert eyes can make a difference.”
SMARCB1 Hope: personal loss inspiring global action
For Cassie and Jean-Baptiste Toulouse, the journey began in 2020 when their daughter Ella was diagnosed with an aggressive SMARCB1-deficient sinonasal carcinoma. Ella sadly succumbed to the disease a few months later. “We realised there was no community or central resource for this disease,” recalls Cassie. “We didn’t want other families to experience the isolation we felt.”
SMARCB1 Hope was created to fill that gap. Focused initially on providing support to patients with SMARCB1-deficient sinonasal tumours and building a research and patient community around all SMARCB1-deficient cancers, they have now also now launched the Ella Toulouse Foundation for Adolescent and Young Adult Cancers under the aegis of the ARC Foundation to bring greater attention to all solid tumours with epigenetic causes. The approach blends direct patient support with strategic research advocacy.
Key achievements include the group’s 2023 international research symposium, which brought together 30 researchers from multiple disciplines, and a dedicated SMARCB1 session at the European Sinonasal Cancer Conference (EUSICA) in Paris in April 2025. One highlight of the latter was a presentation from a patient supported by SMARCB1 Hope, demonstrating the direct human impact of their work.
Since partnering with the ARC Foundation in France, SMARCB1 Hope has ensured that funded projects undergo rigorous scientific review before selection. “We can’t fund every project,” says Jean-Baptiste. “But we can make sure the ones we do support are scientifically sound and have the potential to change practice.”
Patient advocacy remains central to their mission. The founders frequently guide patients towards experienced centres, encourage second opinions and promote early molecular testing to ensure an accurate diagnosis. “A correct, timely diagnosis is everything,” Cassie emphasises. “The treatment options and even the prognosis can be very different if the pathology is mistaken for something else.”
SMARCB1 Hope has built a patient and research community for all SMARCB1-deficient cancers.
The organisation also works to raise international awareness through social media, patient stories and collaborations with related rare cancer groups. This not only helps patients but also increases the visibility of SMARCB1-deficient tumours in the research community.
Close engagement at a SMARCB1 Hope meeting between scientists, clinicians and patients can help to foster advancements in rare cancer research.
Shared lessons and global relevance
Despite their different origins, the Chordoma Foundation and SMARCB1 Hope share common principles: early specialist involvement, cross-border collaboration and empowerment of patients as informed partners in care.
“Validate patients’ knowledge, encourage them to ask questions, and connect them with disease-specific resources,” advises Lozinsky. “It’s about building a partnership.” Cassie Toulouse adds: “In rare disease, the right connection at the right time can completely alter the patient’s journey, sometimes even their outcome.”
For surgeons managing rare skull base pathologies, these organisations offer more than information. They provide pathways to connect with experienced colleagues, access the latest research findings and ensure that no patient faces their diagnosis alone. Whether managing a first-ever case or updating on best practice, the Chordoma Foundation and SMARCB1 Hope are valuable allies in delivering the best possible care.
Further reading
1. Stacchiotti S, Sommer J, Chordoma Global Consensus Group. Building a global consensus approach to chordoma. Lancet Oncol 2015;16(2):e71–83.
Declaration of competing interests: None declared.
