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Patients with Complex
Craniosynostosis Syndromes

Supporting the Born a Hero Research Foundation

Children with rare craniofacial syndromes have a childhood filled with medical emergencies, unwanted stares, bullying, and complex surgeries – as many as 50 skull surgeries or more for one child. Mutations in FGFR genes can cause a variety of syndromes caused by the premature fusion of certain bones of the skull, affecting the shape of the head and face. Appearance, breathing, hearing, vision, neurodevelopment, and more can all be affected. Children in LMICs where there are no specialized surgeons may die early, while in other cases, they may be “sacrificed” by parents.

The Born a Hero Research Foundation is focused on researching 15 craniofacial syndromes caused by FGFR mutations, such as Pfeiffer, Apert, and Crouzon Syndromes. There are several biopharmaceutical companies in the early stages of developing drugs that could reduce or eliminate surgeries, but they will need information before proceeding to clinical trials. PROS has been providing volunteer support to Born a Hero for several years to help prepare for the clinical trial phase. Progress includes:

  • Developing the FGFR Syndromes Patient Registry / Natural History study, which opened in September 2023. The Registry collects data from patients and caregivers, helping researchers learn more about the disorders and how patients are treated at other centers and assisting caregivers in knowing what to expect as their child grows. The data from the Registry will be valuable for biopharma companies as a roadmap to help them design clinical trials.
  • Establishing a network of Craniofacial Centers of Excellence geographically dispersed throughout the US. These Centers may advise on clinical trial design and enroll patients into clinical trials. The Centers and their capabilities are provided online as a resource for caregivers of newly diagnosed patients. Additionally, the Centers are now collaborating to share information about specialized techniques so that all sites can provide the best care to their patients. Surgeons/institutions are learning from each other.
  • Reached out and formed connections with biopharma companies researching treatments for related disorders to share information with them about the need for a drug treatment for FGFR syndromes.
     
  • Supported the organization and hosting of the annual FGFR Syndromes Collaborative Research Network Conference in January 2024 to promote interest and information sharing among scientific researchers, physicians, and patient families.
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