Advancing Craniosynostosis Treatment for Young Children
Official title: Advancing Craniosynostosis Treatment (ACT)Rare Diseases Consortium
Funded at Children's Hosp of Philadelphia · NIH-11397535 · Data updated 2026-11-12
A nationwide collaboration will study how to diagnose and treat syndromic craniosynostosis in children, with long-term tracking of health and development.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | August 19, 2025 |
| Project end | May 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $1,562,624 |
| NIH project number | 5U54DE035976-02 |
| Project ID | NIH-11397535 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are children with Apert, Pfeiffer, Crouzon, Muenke, or Saethre-Chotzen syndromic craniosynostosis undergoing or being considered for surgery, and their families.
✕Less likely to help
Families not affected by these specific craniosynostosis syndromes or not pursuing surgical treatment may see limited direct benefit.
What this research studies
This project brings together pediatric centers and patient advocacy groups to follow children with five syndromic forms of craniosynostosis over time. It will collect detailed imaging, genetics, and patient-reported outcomes to understand how the condition progresses. Two observational studies will compare surgical approaches and timing, while also tracking neurocognitive and psychological outcomes. Results will inform better, more personalized care across multiple sites.
Why it matters
Potential benefit: If successful, this work could improve how doctors diagnose, monitor, and choose treatment options for children with craniosynostosis, leading to better appearance, function, and quality of life.
How similar studies have gone: Past observational studies have shown that documenting natural history and outcomes can improve treatment decisions, but this consortium will provide larger-scale, multi-site data.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Liao, Eric Chien-Wei — Children's Hosp of Philadelphia
- Study coordinator: Liao, Eric Chien-Wei
Related research
Other NIH-funded projects on the same topics.
-
Liver pathobiology from rare liver diseases
A study at UCSF looks at why rare liver conditions cause liver damage, with the aim of finding new ways to diagnose and treat chronic liver disease.
-
Data Management and Coordinating Center support for Rare Diseases Research
A national rare diseases research program is funding a center to manage data and coordinate studies to help improve diagnosis, care, and potential treatments for children with rare conditions.
-
EEG-based drug repurposing for rare CNS diseases
A new approach uses EEG brain signatures to find existing drugs that might help people with rare nervous-system disorders.
-
Ethics of Engaging Patient Groups in Drug Development for Rare Diseases
This grant asks how patient and family groups can ethically help shape rare-disease drug development from idea to market, with input from patients, families, doctors, and researchers.
-
Center for Polyamine Disorders group study of rare metabolic disorders
A research consortium is studying a group of rare metabolic disorders linked to polyamines and aims to understand symptoms, biomarkers, and disease progression to improve care.
-
Encore: speeding up finding new uses for existing drugs to help kids with rare diseases
A big NIH project will test thousands of existing medicines to see if any can help treat rare genetic diseases in children.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.