FaceBase Biorepository

NCT01252264 | Completed DMC

• 2 other identifiers: 200912764U01DE020057
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to find out if there are any genetic differences between people with and without disorders of the head, face, and eye. We will create a biorepository of samples from people with and without these types of birth defects. A biorepository is a collection or "bank" of human tissue materials (such as blood or saliva) for research purposes. These samples will then be available to investigators studying these disorders.

Conditions

Craniofacial Abnormalities; Cleft Lip; Cleft Palate

Keywords

biorepository; genetics; craniofacial; cleft lip; cleft palate

Study Arms (2)

Individuals with craniofacial anomalies

Individuals who have a craniofacial anomaly (head, face, or eye disorder)

Control Subjects

Family members of individuals with a craniofacial anomaly

Eligibility Criteria

• Age: Up to 125 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with a craniofacial anomaly and their family members.

You may qualify if:

• English speaking
• Individual with a craniofacial anomaly or family member of an individual with a craniofacial anomaly

You may not qualify if:

• Non-English speaking
• Prisoners
• Minors in foster care or wards of the court

Sponsors & Collaborators

• Jeff Murray: lead
• National Institute of Dental and Craniofacial Research (NIDCR): collaborator

Study Sites (1)

University of Iowa

Iowa City, Iowa, 52242, United States

Location

Related Publications (2)

• Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010 Jun;42(6):525-9. doi: 10.1038/ng.580. Epub 2010 May 2.

  PMID: 20436469 BACKGROUND

• Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5.

  PMID: 18836445 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

* A biological sample will be obtained by a blood draw. In adults, we will obtain a blood sample of 1-2 tablespoons (10-30 mL). For children, the amount will be smaller depending on their weight: 1 mL per kg to a maximum of 30 mL. * If a blood draw is refused, DNA can be taken from a cheek swab, spit sample or fingerstick. * If a participant is having surgery for a medical reason, we may request a tissue sample (for example: skin, bone, or muscle). If there were to be extra tissue, amniotic fluid, other biological samples available from a procedure performed for clinical indications, we may request a sample.

MeSH Terms

Conditions

Craniofacial Abnormalities; Cleft Lip; Cleft Palate

Condition Hierarchy (Ancestors)

Musculoskeletal Abnormalities; Musculoskeletal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lip Diseases; Mouth Diseases; Stomatognathic Diseases; Mouth Abnormalities; Stomatognathic System Abnormalities; Jaw Abnormalities; Jaw Diseases; Maxillofacial Abnormalities

Study Officials

• Jeff Murray, MD

  University of Iowa

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: November 30, 2010
• First Posted: December 2, 2010
• Study Start: November 1, 2010
• Primary Completion: July 1, 2015
• Study Completion: July 1, 2015
• Last Updated: May 4, 2018

Record last verified: 2018-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)