Advancing Craniosynostosis Treatment (ACT) Rare Diseases Consortium Pilot/Feasibility Governance Core

Children'S Hosp Of Philadelphia, Philadelphia PA

Investigators

Abstract

ABSTRACT: PILOT / FEASIBILITY GOVERNANCE CORE The Advancing Craniosynostosis Treatment (ACT) Rare Diseases Consortium will advance high impact ideas through the Pilot/Feasibility Governance Core, focused on a mission to improve care for patients and families affected by syndromic craniosynostosis (CS). In the Pilot/Feasibility Governance Core (hereafter Pilot Core), we will leverage the expertise, infrastructure, and resources of the Advancing Craniosynostosis Treatment (ACT) Rare Diseases Consortium to catalyze research and collaboration in the craniofacial clinical and research communities. Chiefly, the Pilot Core will identify and overcome key barriers that impede clinical translation through three main aims: 1) Establish clinical priorities of syndromic CS, where the Pilot Core will partner directly with patients, advocacy groups, foundations, and clinicians to establish consensus on greatest shared clinical needs; 2) Construct the mechanism to recruit and fund projects aligned with clinical priorities, where the Pilot core will recruit and prioritize pre-clinical and clinical pilot projects to supply with ACT expertise and resources; 3) vet pilot projects under final consideration for compliance with NIH human subjects, data sharing and other policies, and 4) Develop clinical trial readiness to move projects toward clinical translation, where the Pilot Core will leverage insights from natural history and clinical outcomes studies to catalyze the development of novel diagnostics and treatments for syndromic CS. The expected deliverable of this Pilot/Feasibility Governance Core is to launch and accelerate pilot clinical projects towards clinical trial development in subsequent RDCRN or other organizational mechanisms, and ultimately improve the diagnosis, management, and treatment of syndromic CS.