Invitations to Participate in Research

The following research studies are actively recruiting participants. Please call the Foundation at 800-753-2357 or email info@CdLSusa.org for information.

Behavioral Phenotype and Genotype-Phenotype of CdLS

Principal Investigator: Marco Grados, MD, MPH, Johns Hopkins University School of Medicine, Baltimore, MD.

Through interviews and surveys of parents whose children have CdLS, this project will identify maladaptive behaviors that can accompany CdLS. In addition, blood samples will be 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.

Home Assessment of Sleep in Cornelia de Lange Syndrome

This study is spearheaded by Ann C.M. Smith, MA, DSc, at the National Institutes of Health, in collaboration with CdLS Medical Director Dr. Antonie Kline.

The study will compare the sleep patterns of healthy children with those of children affected by conditions like CdLS. It is part of the broader NIH study, the Natural History Study of the Clinical ad Molecular Manifestations of Smith-Magenis Syndrome (SMS). Children with CdLS will serve as a comparison group study, as well as provide important data on the prevalence of sleep disturbances among persons with CdLS.