CARE Study FAQs

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.

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

No, there is no age limit for the CARE Study. Individuals of any age are eligible to participate, whether they were diagnosed as an infant, child, or adult. The study is open to people with a congenital laryngeal cleft—meaning the laryngeal cleft was present at birth, even if it was not diagnosed until later in life.

If your child is 3 years old or younger, a sponge for saliva collection will automatically be included in the sample collection kit. If your child is older than 3 years and unable to spit into a tube, email the study team and request a sponge for saliva collection. Then follow directions (starting at a1:15) on this video.

As of fall 2025, no new genetic causes have been identified in the small number of families analyzed. However, this is expected in the early stages of the study. Researchers need data from many more families to identify patterns and determine whether specific genetic changes are associated with laryngeal clefts.

If no genetic cause is identified, it does not mean there isn't one. Researchers may not yet recognize the genetic change responsible. As more families participate and genetic knowledge continues to grow, researchers may be able to identify causes that were not previously understood.

Yes. After the initial genetic analysis, family samples may be reanalyzed about once a year. If a genetic cause is identified for your family in the future, the study team will contact you to discuss the findings and provide a clinical report that can be shared with your healthcare providers.

Older estimates suggested laryngeal cleft occurred in about 1 in 10,000–20,000 live births, but this figure is based on early research and primarily reflects more severe cases (types 3 and 4).

More recent research suggests milder laryngeal clefts (types 1 and 2) are likely more common than previously thought. In children with chronic respiratory symptoms undergoing airway evaluation, mild clefts have been identified in up to 7.6% of cases.*

*Wade Chien et al. (2006) — International Journal of Pediatric Otorhinolaryngology

The chance that another child in the family will have a laryngeal cleft depends on the underlying cause. If a laryngeal cleft occurs in one child and no genetic condition or family history is identified, the chance of it occurring again is thought to be relatively low. However, if multiple family members are affected or there is an underlying genetic condition, the chance may be as high as 50%.

At this time, researchers do not have precise estimates because laryngeal clefts are rare and their genetic causes are not yet fully understood. Studies like the CARE Study are working to better understand these patterns so families can receive more accurate information and genetic counseling in the future.