Craniopharyngioma is a rare pediatric brain tumor that is considered benign, but unfortunately is associated with significant long-term morbidity, including negative impacts on vision, hormone function, and growth and development. Due to these impacts, long-term survivors frequently demonstrate poor quality of life outcomes. The craniopharyngioma disease specific working group’s aim is to develop clinical trials based on the most up to date biological information to provide better therapy options that result in long-term survivorship with less impact on daily function and quality of life.
A key limitation to effectively treating craniopharyngioma is the lack of comprehensive understanding of the biologic underpinnings of the disease combined with different compartments (i.e. solid vs cystic regions of tumor) and subtypes of craniopharyngioma that may be driven by distinct pathways. One goal of our craniopharyngioma working group is to investigate the biology of craniopharyngioma to address our currently limited understanding of what causes it, how it recurs after therapy and how best we should target the tumor without causing unnecessary side effects. We expect that this work will ultimately lead to our second goal which is to identify better therapies for craniopharyngioma that decrease risk of disease recurrence, are better tolerated, and lessen the long-term impact on survivors’ visual, hormonal, and developmental outcomes and QOL.
Through collaborative efforts, our group plans to broadly investigate the molecular basis for craniopharyngioma and the mechanisms of disease recurrence, drug resistance, and potential targetable pathways. We are collaborating with investigators across the globe to investigate craniopharyngioma at the level of the solid and cystic tumor components using advanced techniques on biologic specimens like multiplexed ion beam imaging, single-cell (scRNA) and single-nucleus (snRNA) RNA sequencing, proteomic analysis, and ELISA arrays. Further, we are working with colleagues to contribute to development of new preclinical models of craniopharyngioma for drug testing that we will help bring novel therapies from the lab to the bedside. Acutely right now, we are developing an early phase clinical trial investigating PD-1 and pan-RAF inhibition for the treatment of children and young adults with newly diagnosed or recurrent craniopharyngioma and within this trial, we will collect additional biologic specimens that can then inform the next iteration of therapeutics trials for this disease. At the root of our efforts, remains the needs of our patients and families and thus, in parallel to the above efforts, we are conducting a research study on overall management of patients with primary and recurrent craniopharyngioma. The purpose of this study is to identify treatments that were offered to patients and families, factors that played a role in decision making about treatment, and tumor and treatment related complications and importance of quality of life and tumor control. The goal is to identify the most immediate needs and quality of life impacts for patients and families, which will then use to inform clinical trial development. Similarly, using historical data through available through the CBTN, we are reviewing a variety of clinical characteristics and treatment and outcome for our patients that can also augment the foundation from which we aim to investigate better therapies.
We are fortunate to be alongside incredible patient and family ambassadors, including Amanda Haddock from the Dragon Master Foundation; Amy Wood from the Raymond A Wood Foundation; and Kristen Gillette from the Kortney Rose Foundation. All our ambassadors are not only amazing leaders of thriving foundations that support pediatric central nervous system tumor research, they have all also directly experienced the impact of pediatric central nervous system tumors, making their input and guidance invaluable. Amanda Haddock is the President of the Dragon Master Foundation whose mission is “to find and accelerate cures for cancers and other diseases by fostering and rewarding a community of collaboration and innovation. We seek to spread awareness, expedite research and kinder treatments, and improve the quality of life for patients and their families.” Amy Wood is the executive director of the Raymond A Wood Foundation, whose mission is “to empower hypothalamic-pituitary brain tumor survivors for improved quality of life by providing access to education, technology, and evolving treatments.” Kristen Gillette leads the Kortney Rose Foundation, with the mission “to eradicate pediatric brain tumors by supporting the world’s most promising, collaborative research.”
Current members hail from more than a dozen different centers, from the US, Canada, and Germany.