Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones



Status:Recruiting
Conditions:Other Indications, Neurology
Therapuetic Areas:Neurology, Other
Healthy:No
Age Range:Any - 80
Updated:1/24/2018
Start Date:November 2014
End Date:June 2029
Contact:Ethylin Wang Jabs, MD
Email:ethylin.jabs@mssm.edu
Phone:212-241-3504

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Craniosynostosis Network

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.

The long-term goal of the Program Project, Craniosynostosis Network, is to elucidate normal
and abnormal craniofacial biology to ultimately improve the treatment of craniofacial
disorders. Craniosynostosis and other skull abnormalities are among the most common human
malformations usually requiring surgical and medical intervention. The Network will integrate
three projects and two cores. Scientists with diverse expertise including anthropology,
morphometry, imaging, birth defects, developmental biology, genetics, genomics, epidemiology,
statistics, and systems biology will explore the determinants of the fate of the relevant
mesenchymal progenitor cells, abnormalities in osteogenesis that contribute to global skull
growth abnormality and premature closure of cranial sutures, especially the coronal suture.
High quality genomic data will be obtained from patients with coronal nonsyndromic
craniosynostosis (cNSC) and their available parents. Novel genome-wide variant-, gene- and
network-level analyses will be performed on these families to identify novel variants and
genetic regions associated with coronal craniosynostosis.

This study is a multi-center, open-enrollment, retrospective study, employing both
family-based and case-control study designs.

Approximately 4000 cNSC patients, their family members, and controls will be recruited by
Mount Sinai and the majority will be recruited from the more than 10 collaborating
institutions worldwide.

Inclusion Criteria:

- 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.

Exclusion Criteria:

- 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.
We found this trial at
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300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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3400 N Charles St
Baltimore, Maryland 21205
410-516-8000
Johns Hopkins University The Johns Hopkins University opened in 1876, with the inauguration of its...
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Albany, New York 12237
Principal Investigator: Paul Romitti
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Dallas, Texas 75390
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Hartford, Connecticut 06106
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70 Washington Square S
New York, New York 10012
(212) 998-1212
New York University More than 175 years ago, Albert Gallatin, the distinguished statesman who served...
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1428 Madison Ave
New York, New York 10029
(212) 241-6500
Principal Investigator: Ethylin Jabs, MD
Icahn School of Medicine at Mount Sinai Icahn School of Medicine at Mount Sinai is...
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351 Cours de la Libération
Talence, Aquitaine 33405
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University Park, Pennsylvania 16801
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