Clinical Studies

5204: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome

Status: Not recruiting at this time

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 has been designed to evaluate the possible therapeutic benefits of L-5-methyltetrahydrofolate (Metafolin), vitamin B12, creatine and betaine in children with Angelman Syndrome (AS). Eligibility is 5 years of age and under with a molecularly confirmed diagnosis of AS.

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

Join the Contact Registry for: Angelman Syndrome