Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
Running, not enrolling
Conditions studied: Craniosynostosis
In brief
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.
Key facts
- Study ID
- NCT03025763
- Run by
- Icahn School of Medicine at Mount Sinai
- People needed
- 2145
- Starts
- 2015-01-13
- Expected to finish
- 2028-01-31
- Last updated by the study team
- 2025-01-02
Who can join
Age: any, up to 80. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Cases with diagnosis of coronal
- Unaffected relatives of cases
- Unaffected controls including those who may have undergone clinically indicated craniofacial surgery for trauma or conditions other than craniosynostosis or bone disease. These individuals will be recruited at some of the other collaborating institutions, but not at Mount Sinai.
- Individuals of any racial or ethnic group with the established or suspected clinical diagnosis of coronal, nonsyndromic craniosynostosis will be included in this study. Unaffected relatives, such as their biological parents and/or sibs, will also be included to contribute medical information and samples as negative controls for our study.
You may not qualify if…
- Those who fit the criteria, but who choose not to participate
- Those who do not meet the criteria.
- Other than children, no vulnerable individuals will be recruited, such as intellectual impaired individuals or prisoners.
Where it is running
- The International Craniosynostosis Consortium at University of California at Davis — Davis, California, United States
- Yale University — Hartford, Connecticut, United States
- Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States
- National Birth Defects Prevention Study at University of Iowa — Iowa City, Iowa, United States
- Johns Hopkins University — Baltimore, Maryland, United States
- Boston Children's Hospital — Boston, Massachusetts, United States
- Birth Defect Registries of New York State — Albany, New York, United States
- New York University — New York, New York, United States
- Icahn School of Medicine at Mount Sinai — New York, New York, United States
- Pennsylvania State Milton S. Hershey Medical Center — Hershey, Pennsylvania, United States
- Pennsylvania State University — University Park, Pennsylvania, United States
- Seton Family of Hospitals — Austin, Texas, United States
- Medical City Children's Hospital — Dallas, Texas, United States
- University of Texas at Southwestern — Dallas, Texas, United States
- University of Utah — Salt Lake City, Utah, United States
- University of Bordeaux — Talence, Aquitaine, France
- INSERM/ Hospital Necker-Enfants Malades — Paris, Cedex 14, France
- University Hospital Heidelberg — Heidelberg, Germany
- Hospital Sant Joan de Deu — Barcelona, Esplugues de Llobregat, Spain
- Oxford University — Oxford, Oxfordshire, United Kingdom
Full record on ClinicalTrials.gov
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