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.
- Study of Empirical Efficacy & Side Effects of Behavioral Medications Used in CdLS
- Behavioral Phenotype and Genotype-Phenotype of CdLS
- Thrombocytopenia (low platelet counts) in CdLS
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;
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;
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.
