Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones (NCT03025763)
Craniosynostosis Network
🩺 Plain-English Summary (8th-Grade Level)
Craniosynostosis (CS) is a common malformation occurring in \~4 per 10,000 live births in which the sutures between skull bones close too early, causing long-term problems with brain and skull growth. Infants with CS typically require extensive surgical treatment and may experience many perioperative complications, including hemorrhage and re-synostosis. Even with successful surgery, children can experience developmental and learning disabilities or vision problems. Most often, CS appears as isolated nonsyndromic CS (NSC). Of the several subtypes of CS, unilateral or bilateral fusion of the coronal suture is the second most common form of CS accounting for 20-30% of all NSC cases. The etiology of coronal NSC (cNSC) is not well understood, although the published literature suggests that it is a multifactorial condition. About 5-14% of coronal craniosynostosis patients have a positive family history, with a specific genetic etiology identified in \>25% of cNSC cases, suggesting a strong genetic component in the pathogenesis of this birth defect. The causes for cNSC and its phenotypic heterogeneity remain largely unknown. An international team of investigators will generate large genomic and gene expression datasets on samples from patients with cNSC. State-of-the-art imaging, genetic, and developmental and systems biology approaches will be used to quantitatively model novel pathways and networks involved in the development of cNSC. Novel variant-, gene- and network-level analyses will be performed on the genomic data obtained from cNSC cases, their relatives, and controls to identify novel variants and genetic regions associated with cNCS. Quantitative, analytical, and functional validations of these predictions will provide insights into the etiology and possible therapeutic targets for CS and potentially other bone-related disorders.
Who can join: Review the eligibility criteria below.
Location: The International Craniosynostosis Consortium at University of California at Davis — Davis, California
Age range: Not specified to 80 Years
🧪 Interventions in This Study
- Craniosynostosis Network Environmental Survey (OTHER)
- 2D/3D Photography (OTHER)
- Buccal Swab Cell Sampling (PROCEDURE)
- Blood sampling (PROCEDURE)
- Skin Biopsy (PROCEDURE)
- Tissues from a Clinically Indicated Procedure (PROCEDURE)
- Pre-operative CT Scan Image Files. (PROCEDURE)
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (20 Sites)
- The International Craniosynostosis Consortium at University of California at Davis — Davis, California
- Yale University — Hartford, Connecticut
- Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois
- National Birth Defects Prevention Study at University of Iowa — Iowa City, Iowa
- Johns Hopkins University — Baltimore, Maryland
- Boston Children's Hospital — Boston, Massachusetts
- Birth Defect Registries of New York State — Albany, New York
- New York University — New York, New York
- Icahn School of Medicine at Mount Sinai — New York, New York
- Pennsylvania State Milton S. Hershey Medical Center — Hershey, Pennsylvania
- Pennsylvania State University — University Park, Pennsylvania
- Seton Family of Hospitals — Austin, Texas
- Medical City Children's Hospital — Dallas, Texas
- University of Texas at Southwestern — Dallas, Texas
- University of Utah — Salt Lake City, Utah
- University of Bordeaux — Talence, Aquitaine
- INSERM/ Hospital Necker-Enfants Malades — Paris, Cedex 14
- University Hospital Heidelberg — Heidelberg,
- Hospital Sant Joan de Deu — Barcelona, Esplugues de Llobregat
- Oxford University — Oxford, Oxfordshire
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Craniosynostosis
- Efficacy of Amicar for Children Having Craniofacial Surgery — Nashville, Tennessee
Explore by condition: All Craniosynostosis clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Review the official NIH record below to find the coordinating site.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.