Clinical Studies

5203: Angelman Syndrome Natural History Study

Status: Recruiting

Summary:

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

This study is designed to conduct longitudinal multidisciplinary investigations on the natural history, morbidity and mortality of Angelman Syndrome (AS). Detailed longitudinal data on a cohort of AS individuals will be collected to gain a better understanding of the disease progression, and follow the natural history of the clinical features of this patient cohort including assessment of quality of life and longevity.

Target Enrollment:

The participants to be recruited for the study will include 1) patients who have a documented molecular diagnosis of AS and 2) patients with clear clinical diagnosis of Angelman Syndrome as determined by the Principal Investigator and the Co-investigators in this study but who don't have a known molecular defect.

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

• Children's Hospital - San Diego, CA
  Coordinator: Marla Hashiguchi, RN
  E-mail: mhashiguchi@chsd.org
  Phone: 858-966-8940
  
• Baylor College of Medicine - Houston, TX
  Coordinator: Beverly Feldman
  E-mail: bfeldman@bcm.tmc.edu
  Phone: 832-822-4301
  
• Greenwood Genetic Center - Greenwood, SC
  Coordinator: Fran Annese, LMSW
  E-mail: fran@ggc.org
  Phone: 864-941-8100
  1-888-GGC-GENE
  Fax: 864-941-8114
  
• Childrens Hospital Boston - Boston, MA
  Coordinator: Janette Lawrence
  E-mail: Janette.Lawrence@childrens.harvard.edu
  Phone: 617-355-4241
• Vanderbilt University Medical Center - Nashville, Tennessee
  Coordinator: Terry Jo Bichell
  E-mail: terry.jo.bichell@vanderbilt.edu
  Phone: 615-322-8093
  

Join the Contact Registry for: Angelman Syndrome