Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth and cancer predisposition disorder that requires individualized medical care. The disorder can present with a spectrum of features, ranging from severe macroglossia (enlarged tongue) to subtle leg muscle bulk differences and up to 28 percent of patients can develop cancer. As a result of the variety of features, BWS has recently been redefined as Beckwith-Wiedemann spectrum. At the organization’s upcoming conference at Children’s Hospital of Philadelphia (CHOP), the project team aims to address three main issues: patients with BWS require individualized medical care; the newly defined BWS spectrum exposes a gap in research and clinical management guidelines; there is a lack of patient-centered outcomes research (PCOR) and comparative clinical effectiveness research (CER) within the BWS community.
Individualized medical care involves a primary caregiver, collaboration of physicians in relevant specialties, and, most importantly, the voices of patients and families. The team aims to provide the basic knowledge necessary for healthcare providers and patient families to understand how to individualize medical management for each patient with BWS. This proposal provides the opportunity for patients and families to guide the future of BWS research toward patient-centered outcomes. The mission is to disseminate current clinical scientific advancements in BWS, educate the BWS community on the importance of patient involvement in research, and identify patient-driven research areas and potential barriers.
The team will unite key stakeholders including patients, families, researchers, clinicians, and PCORI representatives. On Day 1 of the conference, families and patients will share their healthcare journeys, clinicians will discuss current clinical findings in carrying out personalized medical care, and researchers will disseminate novel scientific developments in BWS research. The team will include discussions of patient-centered outcomes research to elaborate on its combined patient-driven vision and the effective ways to execute this mission. On Day 2, the team will discuss its current research process and ongoing projects that are not yet integrated into clinical practice. The team will hold breakout sessions for research team members, patients, and families to brainstorm about common research interests and potential barriers. These interests will then be transformed into a future research agenda with the overall goal of improving healthcare decisions for patients with BWS.
The BWS research committee will include parents, adult and youth patient representatives, clinicians, and researchers who will help facilitate the conference and continue to disseminate study results. This committee will have quarterly meetings throughout the year. Project collaborators include the Orphan Disease Center at the University of Pennsylvania, patients, families, and members of the BWS Research Network. Each collaborator will advocate for patient-driven and patient-centered outcomes research from a different perspective.
The project team plans to measure its success in raising BWS and PCOR awareness through timely knowledge assessments, identifying patient-driven research areas during breakout sessions to create a research agenda, and utilizing the CHOP Family Advocacy Council to help facilitate partnership with key stakeholders. These outcomes will set the framework for future patient-driven research projects.