Advancing Craniosynostosis Treatment Rare Diseases Consortium |  |
Advancing care for syndromic craniosynostosis, a set of rare diseases in children characterized by premature hardening of the skull, leading to asymmetric skull shape as the brain is forced to grow in other areas. | |
Principal Investigators
Children's Hospital of Philadelphia
THE
NUMBERS
What was your consortium's most significant achievement from the past year?
Eric Liao, MD, PhD, Principal Investigator, ACT: ACT’s most significant achievement this year is our multi-site collaboration across our Cores and Clinical Projects. Thanks to our ACT sites and collaborators at the RDCRN Data Management and Coordinating Center (DMCC) and National Institutes of Health (NIH), the ACT Administrative Core established the necessary contracts, submitted IRB protocols for review, and integrated into the RDCRN. We hosted a patient engagement session, received IRB approval for Clinical Project 1 (Natural History Study of Syndromic Craniosynostosis), and initiated the REDCap database builds, now working to start recruitment for Clinical Project 1. Our ACT Career Core brought together researchers across all career stages to learn in virtual seminars and brainstorm new collaborations. Alongside this, the ACT Pilot Core awarded our Cycle 1 project to create a syndromic craniosynostosis-specific patient-reported outcome. Overall, ACT's collaboration in Year 1 primes our team to advance into the upcoming years as part of the RDCRN.
What did this achievement accomplish?
Dr. Liao: ACT’s multi-site collaboration accomplished the critical start of our consortium’s activities. With the administrative and operational infrastructure set up in Year 1, ACT is now able to work towards establishing the single IRB for the Clinical Projects and human subjects recruitment in Year 2. The collaboration also brought together our ACT research community for continuous learning and funded an innovative pilot project to create a patient-reported outcome focused on syndromic craniosynostosis.
How will this impact the rare disease community?
Dr. Liao: ACT’s collaborative efforts will enable the first prospective multi-site studies for syndromic craniosynostosis across leading craniofacial centers in the United States. The ACT team learned from patients and families in patient engagement sessions, using their perspective to focus our clinical projects and ensure their voices guide ACT’s research to deliver meaningful information. For the rare disease research community, ACT’s collaboration enables investigators across all career stages to learn from each other and enhance their own projects to engage patients and share tools to drive impactful research centered on syndromic craniosynostosis.
How will this advance the goals of your consortium and/or the RDCRN at large?
Dr. Liao: Multi-site collaboration advances us towards ACT’s goal of conducting the first prospective multi-site studies for syndromic craniosynostosis and fostering the craniofacial research ecosystem. By working together across leading craniofacial care centers (Children’s Hospital of Philadelphia, Children’s Hospital Los Angeles, Boston Children’s Hospital, and Seattle Children’s Hospital), we have built the core relationships to set the stage for our research in the upcoming years. We aim to exemplify the mission of the RDCRN and extend collaboration across consortia to share learnings and tools.