Participate in Research
The following research studies are recruiting participants. If you are interested in participating in a study and a contact name is not listed, please call the Foundation at 800.753.2357 for information.
The CdLS Foundation has established a CdLS Registry at the Coordination of Rare Diseases at Sanford (CoRDS). Patient registries are designed to collect, store and curate data on individuals to be used for a specified purpose. They can be tools to establish natural history studies, establish prevalence, and connect patients with researchers who study their conditions
The CoRDS registry specifically houses basic contact and clinical information on any individual who chooses to enroll and who has been diagnosed with a rare condition.
For those of you interested in participating in this registry, go to CoRDS to begin the process. At present, only paper surveys are available so you must select to enroll by mail.
Once the data is entered by CoRDS, you will receive a username/password and be able to update the registry online annually, choose to participate in approved research studies, and even see how you child compares to others in the registry. The online portal will be up and running in the fall of 2014.
What's the benefit of participating? Simply put, advancing the understanding of the syndrome and encouraging further research into its causes. Researchers with appropriate approval may apply to access an anonymous data set in order to determine if any individuals in the registry are eligible for their research studies. The information in the registry may even peak the researchers interest in CdLS or a certain aspect of the syndrome.
Once entered into the registry, you have control over who can and cannot see the information.
This service is provided at no charge to you or the CdLS Foundation since CoRDS is funded by an endowment.
If you have questions, email or call 800-753-2357.
Researchers at the Yale Child Study Center Autism Program in New Haven, CT, are launching a pilot research project on social and emotional development of children with Cornelia de Lange Syndrome 5 years or younger. Similar studies are being carried out with children with Autism Spectrum Disorders and other developmental disorders. The aim of the study is to evaluate mechanisms that give rise to social and emotional difficulties in children with CdLS. As part of their participation in the project, the children will undergo FREE evaluation of their cognitive, language, and social functioning using standard assessments and eye-tracking measures. Participating families receive a written report summarizing the clinical assessment results and recommendations for treatment.
For more information please contact Amy Margolis at 203.785.6237. www.childstudycenter.yale.edu/yescog.
Principal Investigator: Katarzyna Chawarska, PhD
Co-Investigators: Suzanne Macari, PhD, and Frederick Shic, PhD
Don’t throw away those lost teeth. Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis is conducting a study to find out if nerve cells can be grown from the dental pulp of people with various neurogenetic conditions, including Cornelia de Lange Syndrome.
Nerve cells are the key cells that function in the brain. If you take part in this program, you might help researchers develop new treatments for patients with autism and autism related syndrome, like CdLS.
To help with this research, you will be asked to answer several questions about your child’s genetic status. Dr. Reiter will provide a tube of cell growth solution and a prepaid return envelope to you at no cost. If you agree to take part, you will only need to provide a fresh tooth, either extracted or one that fell out on its own. The tooth should be placed in the cell growth solution and mailed right away. The tooth must arrive at Dr. Reiter’s laboratory no more than 48 hours after the time it came out of the mouth.
To request a kit or learn more about taking part, please email .
Families who have not visited The Center for CdLS at Children’s Hospital of Philadelphia or Greater Baltimore Medical Center can help improve CdLS multispecialty clinics for your family and others!
The CdLS and Related Diagnoses Center at Children’s Hospital of Philadelphia is inviting to you join an exciting research study. Parents and guardians of children with CdLS and related diagnoses who have not visited The Center for CdLS at Children’s Hospital of Philadelphia or Greater Baltimore Medical Center are needed to complete a brief anonymous survey. We want to know about your experiences with your child’s current healthcare. The survey will take about 10 minutes to complete.
Please do not take this survey if you already completed one at The CdLS National Family Conference in Costa Mesa, California this past June.
Please click the following link to begin: https://www.surveymonkey.com/s/C53RMDD
Thank you for your participation!
The Center for CdLS and Related Diagnoses
Children’s Hospital of Philadelphia
If you have any questions please contact Kathleen at firstname.lastname@example.org.
This study will investigate central nervous system findings on brain MRIs and compare them to behavioral aspects (such as aggression, mood disorders, self-injury, sleep disturbances) of patients with CdLS. The study will consist of parents answering a behavioral questionnaire (via phone or face to face) and signing a release for us to obtain a copy of previously obtained brain MRI scans and medical records. Medical history and physical exam findings will also be compared to findings on MRI. Similar studies have been carried out in other developmental syndromes including Down syndrome and Fragile X syndrome. If characteristic trends can be found in CdLS, specific medical recommendations may be able to be made, preventative measures taken, and complications avoided, or, at the least, prospective information given to families.
If you or your child is interested in participating, please email for more information. Your participation would be greatly appreciated.
Principal Investigator: Antonie D. Kline, M.D., Director of Pediatric Genetics, Greater Baltimore Medical Center and Medical Director of the Cornelia de Lange Syndrome Foundation
Co-Principal Investigators: Tamanna Ratti M.B., Ch.B., Pediatric Resident, Children’s Hospital at Sinai Hospital of Baltimore
Dr. Yvon Bryan, an anesthesiologist at Wake Forest School of Medicine in Winston-Salem, NC, and his research team are currently studying airway-related problems in individuals with Cornelia de Lange Syndrome (CdLS).
At present, there are few studies published regarding airway and anesthetic techniques in children with the syndrome. Results from Dr. Bryan’s research survey will supplement current studies and facilitate the formation of specific airway and anesthetic techniques to reduce problems with oxygenation (getting oxygen into the body), ventilation (removing carbon dioxide) and intubation. This may be especially helpful when children require sedation and/or general anesthesia for repeated procedures or surgery. If your child has received sedation or general anesthesia for a procedure or surgery, considering taking a few minutes to complete the survey.
For questions about the survey, contact or
Principal Investigator: Marco Grados, M.D., M.P.H., Johns Hopkins University School of Medicine
This project will study the efficacy and side effects of medications used for behavioral problems such as aggression, mood changes, and self-injury in children with CdLS ages 5-17 years. The project consists of a survey to be filled out by parents or caretakers about medications used for behavioral problems, whether the medication helped or not, and what side effects were encountered. To participate, contact:
Marco Grados, M.D., M.P.H., Johns Hopkins University School of Medicine
Principal Investigator: Marco Grados, M.D., M.P.H., Johns Hopkins University School of Medicine.
Through interviews and surveys of parents whose children have CdLS, this project will identify maladaptive behaviors that can accompany CdLS. The goal is a better understanding of the behavioral and psychiatric dimensions of CdLS that will help families find appropriate therapies for their children. Participants must be between 5 and 17 years of age. To participate contact:
Marco Grados, M.D., M.P.H., Johns Hopkins University School of Medicine
Principal Investigator: Michele P. Lambert, M.D., Children's Hospital of Philadelphia.
This study will try to identify patients with thrombocytopenia (low platelet counts, which may put them at risk for abnormal bleeding) and define the scope of the problem (how many patients with CdLS have thrombocytopenia) by reviewing medical records of enrolled patients. Blood samples will be analyzed to see if low platelet counts are due to platelet destruction or poor production. The goal is a better understanding of this potentially life-threatening problem in order to develop targeted treatments. Individuals should have a low platelet count to participate in the study.