Characterization of Angelman Syndrome

Completed

Conditions studied: Angelman Syndrome

In brief

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.

Key facts

Study ID

NCT00296764

Run by

Boston Children's Hospital

People needed

302

Starts

2006-02-01

Expected to finish

2014-08-01

Last updated by the study team

2021-03-02

Who can join

Age: 0 and older, up to 60. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Molecular diagnosis of Angelman syndrome OR
• Meets all major diagnostic criteria for Angelman Syndrome and 3 of the 6 minor criteria:
• Major Criteria:
• Functionally severe developmental delay
• Speech impairment; none or minimal words used
• Movement or balance disorder
• Behavioral uniqueness, frequent laughs/smiling, excitable personality, hand flapping, short attention span
• Minor Criteria:
• Deceleration in head circumference growth (post-natal)
• Seizures (myoclonic, absence, drop, tonic-clonic)
• Abnormal EEG (with patterns suggestive of AS, or hypsarrhythmia)
• Sleep disturbance
• Attraction to or fascination with water
• Drooling

You may not qualify if…

• Does not meet diagnostic criteria for Angelman Syndrome
• Other medical or genetic disorders (except autism)
• Born extremely premature

Where it is running

• Rady Children's Hospital San Diego — San Diego, California, United States
• Boston Children's Hospital — Boston, Massachusetts, United States
• Cincinnati Children's Hospital and Medical Center — Cincinnati, Ohio, United States
• Greenwood Genetic Center — Greenwood, South Carolina, United States
• Vanderbilt University Medical Center — Nashville, Tennessee, United States
• Baylor College of Medicine — Houston, Texas, United States

Full record on ClinicalTrials.gov

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