Status:
COMPLETED
Characterization of Angelman Syndrome
Lead Sponsor:
Boston Children's Hospital
Collaborating Sponsors:
Rady Children's Hospital, San Diego
Baylor College of Medicine
Conditions:
Angelman Syndrome
Eligibility:
All Genders
1-60 years
Brief 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 st...
Detailed Description
AS is a developmental disorder that affects movement, speech, and social demeanor. The disorder is caused by a deficiency of a maternally transmitted gene and is inherited at birth. Children with AS, ...
Eligibility Criteria
Inclusion
- 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
Exclusion
- Does not meet diagnostic criteria for Angelman Syndrome
- Other medical or genetic disorders (except autism)
- Born extremely premature
Key Trial Info
Start Date :
February 1 2006
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
August 1 2014
Estimated Enrollment :
302 Patients enrolled
Trial Details
Trial ID
NCT00296764
Start Date
February 1 2006
End Date
August 1 2014
Last Update
March 2 2021
Active Locations (6)
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1
Rady Children's Hospital San Diego
San Diego, California, United States, 92123
2
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
3
Cincinnati Children's Hospital and Medical Center
Cincinnati, Ohio, United States, 45229
4
Greenwood Genetic Center
Greenwood, South Carolina, United States, 29646