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
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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
Dr. Chung on the CARE Study
By Dr. Wendy Chung, MD
Chief of Pediatrics, Boston Children’s Hospital
You may have asked yourself the following questions: Why was my child born with a laryngeal cleft? What caused this? What will the future hold?
To a certain extent, every child is different and the answer to these questions may be different for each child with a laryngeal cleft. Your doctors may have been able to provide some answers, but perhaps not all the answers. Because we are doctors taking care of patients with a laryngeal cleft and other related conditions, we want to find answers to your questions and need to perform research to learn about what we don’t yet know.
One possible explanation is related to genetics. Genetics may not have all the answers for all individuals with a laryngeal cleft, but it likely will provide some information for some people. It’s for this reason that we are starting the genetic study of laryngeal clefts in collaboration with Laryngeal Cleft Network.
The following questions were answered at a recent live CARE Study webinar:
How often do you expect to find a genetic cause of laryngeal cleft?
I actually don't know the answer to that very simple question. That's why we're doing the research. If I had to guess, I wouldn't be surprised if it’s 10% initially. I think that's going to be the minimum and I think we're going to go up from there. It may be that as we go on it becomes 20%, and then goes up to 30%. The more people that we have doing this together, the higher that number goes up, because we start seeing connections between individuals, between families. We start seeing the same gene that's involved not just in one family from Iowa, but we see another family from Missouri, another family from Wisconsin, another family from Texas.
How many genes could be involved?
I don't expect there to be just one gene for laryngeal clefts. I actually expect that there are going to be probably dozens of genes, and each gene may have different answers to these same questions. So that is different information about prognosis or what to expect, different information about implications for family members. We hope that we can provide not just one answer, but actually answers that are tailored for each of you.
What happens if you find a cause in my/my child’s genes?
If we do find what we think is the genetic cause of the laryngeal cleft in your family, we're going to give you a call and email to talk to you about what that means. And you'll get a clinical test report so that you and your doctor can use that information for your clinical care. You shouldn't need your doctor to order an additional genetic test. If you get a positive result, you'll get a clinical report that says that.
What happens if you DON’T find a cause in my/my child’s genes?
If we don't find the answer, we are going to keep looking. We're not going to give up. As more and more families come in, we're going to keep reanalyzing that data. We expect we'll do it probably once a year. So even if you don't hear a positive result from us right away in that first three to six months, we'll continue looking. As long as we know where to find you, even if it's two, three years from now, we'll continue to reach out when we have that information.
If I have a child with a laryngeal cleft, what is the likelihood of having another child with it?
That is dependent on your family history and your own personal circumstances. If you have a family history where there's more than one person with a laryngeal cleft, we need to handle that on a one-by-one basis, but that risk could be as high as 50%. We know that based on looking at some other congenital anomalies for individuals, where there's no family history, the chance of it happening again is likely much lower, but likely not zero. Probably less than 10%, maybe even less than 1%, but I don't know until we do some more of this research to get the answer to that question.
How can my family get involved?
The Congenital Anomalies Research & Exploration (CARE) Study is currently enrolling interested families. This research study is free of charge and can be done from your home.
You can sign up for the study by emailing ChungGeneticResearch@childrens.harvard.edu. Please include “LCN Research” in the subject line.
The study team will send you an electronic consent form and ask you to complete several short surveys online. After all surveys are completed, saliva collection kits will be mailed to your home. Once you provide saliva samples and send them back to the study, we will complete genetic analysis and call or email you with the results. It will take up to six months to receive the results of your testing.
Is there an age limit to enroll?
Anyone of any age is eligible to enroll. It doesn't matter when your diagnosis was made. Even though it might not have been made until later, it was undoubtedly present earlier and your genes really are not changing appreciably over your life course.
How can I find out more?