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Participate in CdLS Research

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.

Association between brain MRI findings and behavior in clinically diagnosed patients with CdLS

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

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Airway Management of Children with CdLS

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

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Study of Empirical Efficacy and Side Effects of Behavioral Medications Used in Cornelia de Lange Syndrome

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
Phone: 443-287-2291;

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Behavioral Phenotype and Genotype-Phenotype of CdLS

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
Phone: 443-287-2291;

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Thrombocytopenia (low platelet counts) in CdLS

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.

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