The following research studies are actively 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.
CdLS Foundation Transition and Adult Services Survey
For families of children with Cornelia de Lange Syndrome (CdLS), an important part of planning is transitioning their child into adult life. The CdLS Foundation recognizes the importance of this preparation and is offering an opportunity for parents of people with CdLS ages thirteen and older to participate in the CdLS Foundation Transition and Adult Services Survey.
The survey allows families to discuss their own experiences and help the Foundation assist others as they transition their child into adulthood. The survey is available at http://www.surveymonkey.com/s/ST8LBJ2 until Tuesday, April 20, 2010.
We value your participation, whether you are just starting the process and have more questions than answers, or have years of experience to share. Please feel free to contact Liana Fresher at the Foundation, 800-223-8355, if you have any questions.
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, please contact:
Marco Grados, M.D., M.P.H.
Assistant Professor
Johns Hopkins University School of Medicine
Phone: 443-287-2291
E-mail: mjgrados@jhmi.edu
RPN# NA_00022541
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. In addition, blood samples are analyzed to see if specific forms of the gene that causes CdLS might contribute to those behaviors. 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. Contact Dr. Grados at 443-287-2291 or mjgrados@jhmi.edu, if you are interested in participating.
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.
