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.
Support Service Needs of Adult Siblings of Persons with CdLS
This study evaluates the use and needs of support services for adult siblings of persons with CdLS. The purpose of the study is two-fold: 1) to understand the support needs and life experiences of these adult siblings, and 2) to assist service providers and organizations like the CdLS Foundation develop and implement services for this population.
Participants must be at least 23 years of age and have a sibling with CdLS. Multiple siblings from the same family are welcome to each complete a survey.
The survey takes approximately 30 minutes to complete and is available online at http://tiny.cc/cdlssibs. Participation is voluntary, completely anonymous, and greatly appreciated. The survey is open from November 1 to December 31, 2009.
The study is conducted by Veronique Weinstein, a genetic counseling student at the University of Maryland. E-mail vwein001@umaryland.edu with questions or concerns.
Educational Research Opportunity for Parents with Children Ages Birth to 21
The University of Connecticut’s Center for Developmental Disabilities (UCEDD) invites parents to participate in a survey to share their perspectives on their child’s experiences. Topics covered include therapies, social interactions, and the educational system.
With information gained from this survey, researchers hope to develop educational guidelines for parents, as well as professionals working in the school arena. This project is a follow-up to a broader survey in 2007, which saw overwhelming support from parents.
The survey can be accessed online at http://www.surveymonkey.com/s.aspx?sm=556cwt76DDNZ9Tt2rbVFLg_3d_3d; for a paper copy, contact Cristina Wilson, Ph.D., at 860-679-1500 or cmwilson@uchc.edu.
Questions regarding this study may be directed to the Principal Investigator, Mary Beth Bruder, Ph.D., 860-679-1500. Questions regarding the rights of research subjects should be directed to an IRB Representative at (860) 679-8729 or (860) 679-3054.
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.
