Characterization of Angelman Syndrome
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ClinicalTrials.gov Identifier: NCT00296764 |
Recruitment Status :
Completed
First Posted : February 27, 2006
Last Update Posted : March 2, 2021
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Condition or disease |
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Angelman Syndrome |
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, however, are often not diagnosed until they are between 3 and 7 years old. Symptoms of AS may include, but are not limited to, functionally severe developmental delay; speech impairments; movement or balance problems; and behavioral uniqueness, including any combination of frequent laughter or smiling, apparent happy demeanor, easily excitable personality, hand flapping movements, and short attention span. There are four molecular variations of AS, but past clinical studies have been inconsistent in highlighting the phenotypic differences between them. This study will gain a better understanding of the disease progression and clinical features of AS by observing children with AS over a period of 5 to 10 years. The study will also attempt to establish genotype-phenotype correlations, which might aid in future clinical care of AS patients.
Participation in this observational study will be limited to current or future patients at one of the five study sites. A clinical evaluation will be performed at baseline, including a general patient history, physical and neurological examinations, a nutritional assessment, neuro-imaging, electroencephalography, laboratory testing, and neurodevelopmental testing. A blood sample or mucosal sample will also be taken at baseline to acquire DNA for potential genetic testing. All assessments except the neuro-imaging, electroencephalography, and blood sampling will be repeated at yearly study visits for as long as funding can be secured. In addition, participants will be photographed and perhaps videotaped on a yearly basis in order to document clinical phenotypes and any neurologic abnormalities. Participants may be followed-up for a total of 10 years.
Study Type : | Observational |
Actual Enrollment : | 302 participants |
Observational Model: | Case-Only |
Time Perspective: | Prospective |
Official Title: | Angelman Syndrome Natural History Study |
Actual Study Start Date : | February 2006 |
Actual Primary Completion Date : | August 2014 |
Actual Study Completion Date : | August 2014 |

- medical morbidity [ Time Frame: annually ]to characterize the medical problems associated with Angelman syndrome, and to determine the relative prevalence of those problems in the different molecular subclasses of Angelman syndrome
- developmental progress [ Time Frame: annually ]Assess with a variety of neuropsychological instruments, including Bayley Scales of Infant Development, Vineland Adaptive Behavior Scales, Preschool Language Scale
- autism [ Time Frame: annually ]Evaluate for autism spectrum disorder using Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | up to 60 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- 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 Criteria:
- Does not meet diagnostic criteria for Angelman Syndrome
- Other medical or genetic disorders (except autism)
- Born extremely premature

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00296764
United States, California | |
Rady Children's Hospital San Diego | |
San Diego, California, United States, 92123 | |
United States, Massachusetts | |
Boston Children's Hospital | |
Boston, Massachusetts, United States, 02115 | |
United States, Ohio | |
Cincinnati Children's Hospital and Medical Center | |
Cincinnati, Ohio, United States, 45229 | |
United States, South Carolina | |
Greenwood Genetic Center | |
Greenwood, South Carolina, United States, 29646 | |
United States, Tennessee | |
Vanderbilt University Medical Center | |
Nashville, Tennessee, United States, 37232 | |
United States, Texas | |
Baylor College of Medicine | |
Houston, Texas, United States, 77030 |
Principal Investigator: | Carlos A. Bacino, MD | Baylor College of Medicine, Department of Molecular and Human Genetics | |
Study Chair: | Lynne Bird, MD | Rady Childrens Hospital San Diego, UCSD Dept of Pediatrics | |
Principal Investigator: | Steven A. Skinner, MD | Greenwood Genetic Center | |
Principal Investigator: | Wen-Hann Tan, BMBS | Boston Children's Hospital | |
Principal Investigator: | Logan K Wink, MD | Children's Hospital Medical Center, Cincinnati | |
Principal Investigator: | Sarika Peters, PhD | Vanderbilt University Medical Center |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | Wen-Hann Tan, Site PI (Lead PI: Lynne M. Bird, MD - Univ. of California, San Diego), Boston Children's Hospital |
ClinicalTrials.gov Identifier: | NCT00296764 |
Other Study ID Numbers: |
RDCRN 5203 U54RR019478 ( U.S. NIH Grant/Contract ) |
First Posted: | February 27, 2006 Key Record Dates |
Last Update Posted: | March 2, 2021 |
Last Verified: | February 2021 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Developmental Disorders |
Angelman Syndrome Syndrome Disease Pathologic Processes Movement Disorders Central Nervous System Diseases |
Nervous System Diseases Abnormalities, Multiple Congenital Abnormalities Chromosome Disorders Genetic Diseases, Inborn |