CARE Study
Congenital Anomalies Research & Exploration (CARE) Study
Status: Currently Enrolling
PRINCIPAL INVESTIGATOR
Dr. Wendy Chung
Chief of Pediatrics, Boston Children's Hospital
VIRTUAL & IN-PERSON ENROLLMENT
Boston Children’s Hospital
Contact: Study Coordinator Becca Hernan
Email: ChungGeneticResearch@childrens.harvard.edu
Phone: 617-919-0605
IN-PERSON ENROLLMENT
Cincinnati Children’s Hospital Medical Center
Contact: Study Coordinator Pranjal Patel
Email: pranjal.patel@cchmc.org
Phone: 513-636-3929
INFORMATIONAL WEBINAR
Hosted January 25, 2025
Laryngeal Cleft Network and CARE Study
STUDY UPDATES
Subscribe to our newsletter and follow us on social media to receive updates.
How to Enroll
HOW TO ENROLL IN THE CARE STUDY FROM ANYWHERE IN THE UNITED STATES
Sign up by emailing ChungGeneticResearch@childrens.harvard.edu. Please include "LCN Research" in the subject line.
Within a week, you should receive an email with electronic consent forms.
Sign and submit all consents for the family. You will then receive a link to the study surveys.
Complete and submit all surveys. Once submitted, you will receive saliva collection kits in the mail — usually within two weeks.
All family participants* then need to complete the saliva collection and mail it back.
After the lab receives saliva samples from all family participants* you should expect to receive results within 3-6 months. If a saliva sample is collected improperly, it will fail in the lab and a new sample will be needed. This will extend the timeline for results, so proper saliva collection is vital.*
If a genetic change is found, you'll receive an email notification and a phone call to discuss the results in detail.
If nothing is found initially, you'll receive an email notification. The samples will be reanalyzed periodically, and if a positive result is found in the future, you will be contacted.
LCN will give periodic study updates, so follow us on social media and subscribe to our monthly newsletter for updates.
*NOTE: Saliva samples from a specific family will not be analyzed until adequate samples are received from all participants in that family.
TO ENROLL IN PERSON IN BOSTON OR CINCINNATI, PLEASE REACH OUT TO THE APPROPRIATE STUDY COORDINATOR USING THE CONTACT INFORMATION LISTED ABOVE.
SPONGE COLLECTION OPTION
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 about 1:15) on this video:
WHAT DO RESEARCHERS EXPECT TO FIND?
Dr. Chung shares more information on what she expects to find in the CARE Study in this expert article:
Questions?
Email: ChungGeneticResearch@childrens.harvard.edu
Study Overview
What is the purpose of the study?
The purpose of this study is to gain a better understanding of genetic variants that are suspected of causing laryngeal clefts. Our efforts will ultimately aid in the diagnosis, prevention, or treatment of laryngeal clefts.
Who can participate?
Anyone with a personal or family history of laryngeal cleft is eligible to participate.
Where is it being conducted?
This study is being conducted at Boston Children's Hospital in collaboration with hospitals all over the United States and several international institutions. Currently, families may participate remotely from wherever they live in the United States, or locally through BCH and Cincinnati Children’s Hospital Medical Center.
What must I do if I’m in the study?
If you choose to enroll in the study, we will collect a saliva sample and your medical history and family history. We will also review your medical records. You may be asked to complete several online surveys as well as developmental assessments over time.
What are the benefits of the study?
You may not benefit personally from the study. However, if a genetic cause of the birth defect is identified, you will be notified after clinical confirmation. Researchers expect the overall results of this research will advance knowledge about genetic causes for these diseases.
How is the study being funded?
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.
Fall 2025 Update
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.
Questions?
Email the team: ChungGeneticResearch@childrens.harvard.edu