Characterization of Angelman Syndrome

Summary

Angelman Syndrome (AS) is a developmental disorder that is caused by a deficiency of a maternally transmitted gene. It is inherited at birth, and affects movement, speech, and social demeanor. This study will gain a better understanding of the disease progression and clinical features of AS by observing children with AS over an extended period of time.

Conditions

• Angelman Syndrome

Sponsors & Collaborators

• Rady Children's Hospital, San Diego

  collaborator OTHER

• Baylor College of Medicine

  collaborator OTHER

• Greenwood Genetic Center

  collaborator OTHER

• Children's Hospital Medical Center, Cincinnati

  collaborator OTHER

• Vanderbilt University Medical Center

  collaborator OTHER

• National Center for Research Resources (NCRR)

  collaborator NIH

• Boston Children's Hospital

  lead OTHER

Principal Investigators

• Carlos A. Bacino, MD · Baylor College of Medicine, Department of Molecular and Human Genetics

• Lynne Bird, MD · Rady Childrens Hospital San Diego, UCSD Dept of Pediatrics

• Steven A. Skinner, MD · Greenwood Genetic Center

• Wen-Hann Tan, BMBS · Boston Children's Hospital

• Logan K Wink, MD · Children's Hospital Medical Center, Cincinnati

• Sarika Peters, PhD · Vanderbilt University Medical Center

Eligibility

Min Age

1 Day

Max Age

60 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2006-02-28

Primary Completion

2014-08-31

Completion

2014-08-31

Countries

• United States

Study Locations