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We're sorry. This study is closed and no longer recruiting participants.

STUDY BASICS

Does your child age 5-17 have a history of cleft lip and/or palate? Researchers are looking for children with cleft lip and/or cleft palate and their families to take part in a research study to identify the inherited factors (genes) that may play a role in the development of cleft lip and cleft palate. Compensation provided.


STUDY PURPOSE
Cleft lip and cleft palate (called orofacial clefts) are common birth defects that occur when a baby’s lip or mouth do not form properly during pregnancy. People with these conditions often undergo multiple surgeries and other medical procedures. Although the exact cause of orofacial clefts is unknown, affected individuals are more likely to have a relative with a cleft than would be expected by chance. This suggests that genes may play a role in why certain individuals are born with orofacial clefts. The purpose of the Pittsburgh Orofacial Cleft Families Study is to learn more about the inherited factors (genetics) of cleft lip and/or cleft palate. Researchers will compare people with and without orofacial clefts.
COULD THIS STUDY BE RIGHT FOR YOUR CHILD?
  • Age 5-17
  • Caucasian, Asian, or Hispanic
  • History of cleft lip and/or cleft palate
  • No personal or family history of genetic syndromes or multiple severe birth defects
  • Affected family member must be available to participate

WHAT PARTICIPANTS CAN EXPECT
Study participation requires 1 visit lasting 3-4 hours, and includes the following:
  • DNA sample (saliva specimen)
  • Questionnaires
  • Speech assessment
  • Photographs, videos, and assessments of your face and mouth
  • Ultrasound of your upper lip
  • Dental impressions
  • Scan of your hands
  • Smell test

IRB: STUDY19030367D
- Oral-Facial Cleft Families: Phenotype and Genetics: (Pittsburgh and Guatemala Sites)

PHONE NUMBER: 1-866-438-8230
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INTERESTED?

Visit https://pittplusme.org/study/96 and click on "I'm Interested" or call 1-866-438-8230.


LEARN MORE

PittPlusMe.org
1-866-438-8230
PittPlusMe@pitt.edu
@PittPlusMe
@PittPlusMe

MEET THE RESEARCHER


Mary Marazita

Mary Marazita, PhD, has been on the faculty of the University of Pittsburgh since 1993, currently serving as the Director of the Center for Craniofacial and Dental Genetics, Professor and Vice Chair of the Department of Oral Biology in the School of Dental Medicine. Dr. Marazita’s research focuses on the human genetics of complex traits, primarily facial birth defects (primarily cleft lip, cleft palate and other craniofacial anomalies), and oral disease (such as tooth decay, malocclusion, and periodontal disease).