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CARE Study FAQs

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Genetics & Laryngeal Clefts

  • The purpose of this study is to gain a better understanding of genetic variants that are suspected of causing laryngeal clefts. Efforts will ultimately help in the prevention, diagnosis, and treatment of laryngeal clefts.

  • The more families who participate in the CARE Study, the more data researchers have to identify patterns and discover genetic causes of laryngeal clefts. Larger participation helps improve the ability to recognize connections between families, which may increase the likelihood of finding answers and may also help speed up research progress.

  • Anyone in the United States with a personal or family history of a laryngeal cleft is eligible to participate. Over time, the study team hopes to expand eligibility to additional countries.

  • There is no age limit for the study. Individuals of any age are eligible to enroll, regardless of when a diagnosis was made.

    Although the diagnosis may not have been made until later in life, the condition was present at birth.

  • Families may participate remotely from wherever they live in the United States, or locally through BCH and Cincinnati Children’s Hospital Medical Center.

  • If you choose to enroll in the study, we will collect a saliva sample, medical/family history, and review your medical records. You may be asked to complete several online surveys as well as developmental assessments over time.

    See CARE Study Enrollment for more details.

  • If your child is unable to spit into a tube, email the study team and request a sponge for saliva collection.

    Then follow directions (starting at 1:15) on this video.

  • You may or may not benefit personally from the study.

    If a genetic cause of the condition is identified, you will be notified after clinical confirmation.

    The study team expects the overall results of this research to advance knowledge about the genetic causes of laryngeal clefts.

  • The CARE Study is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

    It's part of the CLEAR Consortium—a collaborative research program dedicated to discovering the genetic causes of trachea-esophageal birth defects.

  • This research is being conducted at Boston Children's Hospital (BCH) in collaboration with hospitals all over the United States and several international institutions.

  • To date, the CARE Study has not identified any new genetic causes in the small number of families analyzed. Some genetic syndromes, such as 22q11.2 deletion syndrome, are already known to be associated with laryngeal clefts. The goal of the CARE Study is to discover additional genetic changes that may help explain why laryngeal clefts occur, particularly in families without a known genetic diagnosis.