FaceBase Biorepository

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.

Study Overview

• Status: Completed
• Conditions: Cleft Palate; Cleft Lip; Craniofacial Abnormalities

Detailed Description

Samples from the FaceBase Biorepository and data collected from these samples will be available to investigators who are studying birth defects of the head, face, and eye. Data and samples will be deidentified prior to use by other investigators. Researchers will be allowed to use samples and medical information only after approval by the FaceBase Biorepository Data Access Committee. Once the FaceBase Biorepository Data Access Committee has established that the proposed use of the samples and clinical data meet the criteria for sound, ethical research, then the investigator will be granted permission to use a small portion of the sample and have access to clinical data stored in the computer database. Investigators who are not part of the FaceBase Biorepository Research Team will not know participant's names or other personally identifiable information.

• Study Type: Observational
• Enrollment (Actual): 5000

Contacts and Locations

Study Locations

• United States
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 125 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals with a craniofacial anomaly and their family members.

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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

Collaborators and Investigators

• Sponsor: Jeff Murray
• Collaborators: National Institute of Dental and Craniofacial Research (NIDCR)
• Investigators: Principal Investigator: Jeff Murray, MD, University of Iowa

Publications and helpful links

General Publications

• 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. Erratum In: Nat Genet. 2010 Aug;42(8):727. Scott, James M [corrected to Scott, John M].
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2010
• Primary Completion (Actual): July 1, 2015
• Study Completion (Actual): July 1, 2015

Study Registration Dates

• First Submitted: November 30, 2010
• First Submitted That Met QC Criteria: November 30, 2010
• First Posted (Estimate): December 2, 2010

Study Record Updates

• Last Update Posted (Actual): May 4, 2018
• Last Update Submitted That Met QC Criteria: May 1, 2018
• Last Verified: May 1, 2018

More Information

Terms related to this study

• Keywords: genetics; cleft lip; cleft palate; biorepository; craniofacial
• Additional Relevant MeSH Terms: Congenital Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Mouth Diseases; Lip Diseases; Mouth Abnormalities; Stomatognathic System Abnormalities; Jaw Abnormalities; Jaw Diseases; Maxillofacial Abnormalities; Musculoskeletal Abnormalities; Cleft Palate; Cleft Lip; Craniofacial Abnormalities
• Other Study ID Numbers: 200912764; U01DE020057 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO