Fall 2025 CARE Study Update

Announcement

Sep 18

The CARE Study has enrolled about 50 laryngeal cleft families since the beginning of 2025. Of those 50 families, 12 have completed the testing, and researchers have analyzed their samples and sent back the results. The study team is receiving one to two new enrollments every few weeks.

In the small numbers of families analyzed, no new genetic causes have been identified. However, it's important to understand that if no genetic cause for a family is found, it doesn’t mean there isn’t one. There could still be a genetic cause that researchers do not yet recognize, but will in the future as more families are analyzed and as patterns across families emerge.

The genetic causes of laryngeal clefts are not well understood currently, so the study is focused on trying to identify genes that may be related. As time goes on – and more and more families join the study – researchers will have a better chance of identifying genetic changes that may be causing this birth defect.

After the initial sequencing, family samples will be retested about once a year. If a genetic cause is identified in your family in the future, you will be contacted by the study team, who will discuss the result and send a clinical report at that time.

Saliva Kits

Don’t forget to send back your samples! About 25% of LCN families have not yet sent their samples back for testing.

Collection Issues

Proper saliva collection is key to ensuring researchers can actually test the sample. For a variety of reasons, some of the samples are not adequate, and families are being asked to resubmit a sample, which delays results.

Collection Tips

No eating or drinking anything for at least 30 minutes before collection.
Consider leaving the kit by your bed and collecting saliva first thing in the morning.
Fill the tube up to the line with saliva – not bubbles.
Carefully read the included directions.