FaceBase Biorepository

NCT ID: NCT01252264

Last Updated: 2018-05-04

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 5000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-11-30
• Study Completion Date: 2015-07-31

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.

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.

Conditions

Craniofacial Abnormalities; Cleft Lip; Cleft Palate

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: RETROSPECTIVE

Study Groups

Individuals with craniofacial anomalies

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

No interventions assigned to this group

Control Subjects

Family members of individuals with a craniofacial anomaly

No interventions assigned to this group

Eligibility Criteria

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

• Maximum Eligible Age: 125 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

National Institute of Dental and Craniofacial Research (NIDCR)

NIH

Sponsor Role: collaborator

Jeff Murray

OTHER

Sponsor Role: lead

Responsible Party

Jeff Murray

Principal Investigator

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Jeff Murray, MD

Role: PRINCIPAL_INVESTIGATOR

University of Iowa

Locations

University of Iowa

Iowa City, Iowa, United States

Countries

United States

References

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.

Reference Type: BACKGROUND

PMID: 20436469 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 18836445 (View on PubMed)

Other Identifiers

U01DE020057

Identifier Type: NIH

Identifier Source: secondary_id

View Link

200912764

Identifier Type: -

Identifier Source: org_study_id