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.
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.
Dental Treatment and Anesthesia with CdLS
Investigators: Ellen Alpano, D.D.S., University of Maryland Dental School (Phone: 928-550-1735 or email alpano.dds@gmail.com); Antonie Kline, M.D., Greater Baltimore Medical Center; Douglas Clemens, D.M.D., Cross Keys Dental Associates; Aaron Zuckerberg, M.D., Sinai Hospital of Baltimore.
Through collection of dental and anesthesia records, this study will identify dental procedures and use and outcomes of anesthesia in patients with CdLS. In addition, surveys will be distributed to dental providers in order to ascertain dental condition, dental treatment and perceptions of dental providers in comparison to other special needs patients. The goal is to learn about the present trend in dental treatment and anesthesia use with CdLS individuals.
Parenting Stress in Families of Children with CdLS
Principal Investigator: Dave Richman, Ph.D., University of Illinois.
The study is open to any family with a child aged 5 to 21 who has CdLS. Families do not need to be experiencing very high levels of stress to participate. The study will document common patterns of parental stress across different child age ranges, with the long-term goal of helping families know what to expect and how to obtain family supports to reduce parental stress.
The study involves filling out four rating forms about your child and your experiences raising him/her. It will take 30 to 60 minutes to complete all four forms. The rating forms ask about your child’s (1) positive and disruptive behaviors, (2) his or her levels of adaptive behavior (e.g., communication, independent living skills), (3) level of behaviors often associated with autism, and (4) your level of parenting stress. Contact Dr. Richman at 217-265-4040 or drichman@uiuc.edu to request the rating forms or to ask further questions.
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.
Home Assessment of Sleep in CdLS
Principal Investigator: Ann C.M. Smith, MA, National Institutes of Health, in collaboration with CdLS Medical Director Dr. Antonie Kline.
The study compares the sleep patterns of typical 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. Children with CdLS serve as a comparison group study, as well as provide important data on the prevalence of sleep disturbances among persons with CdLS.
