Characterization of Angelman Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by University of California, San Diego
Sponsor:
Collaborators:
Rady Children's Hospital, San Diego
Texas Children's Hospital
Children's Hospital Boston
Greenwood Genetic Center
Vanderbilt University
Children's Hospital Medical Center, Cincinnati
Information provided by (Responsible Party):
Lynne M. Bird, University of California, San Diego
ClinicalTrials.gov Identifier:
NCT00296764
First received: February 24, 2006
Last updated: July 1, 2013
Last verified: July 2013
  Purpose

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.


Condition
Angelman Syndrome

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Angelman Syndrome Natural History Study

Resource links provided by NLM:


Further study details as provided by University of California, San Diego:

Primary Outcome Measures:
  • medical morbidity [ Time Frame: annually ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    Assess with a variety of neuropsychological instruments, including Bayley Scales of Infant Development, Vineland Adaptive Behavior Scales, Preschool Language Scale


Secondary Outcome Measures:
  • autism [ Time Frame: annually ] [ Designated as safety issue: No ]
    Evaluate for autism spectrum disorder using Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised


Biospecimen Retention:   Samples With DNA

Blood and cheek swab samples


Estimated Enrollment: 320
Study Start Date: February 2006
Estimated Study Completion Date: September 2014
Estimated Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
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, 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 four 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 a total of 5 years. 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.

  Eligibility

Ages Eligible for Study:   up to 60 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with Angelman syndrome (molecular or clinical diagnosis) between the ages of 1 day and 60 years.

Criteria

Inclusion Criteria:

  1. Molecular diagnosis of Angelman syndrome OR
  2. 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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00296764

Contacts
Contact: Lynne M Bird, MD 858-966-5840 lbird@rchsd.org

Locations
United States, California
Rady Children's Hospital San Diego Recruiting
San Diego, California, United States, 92123
Contact: Lynne M. Bird, MD    858-966-5840    lbird@rchsd.org   
Contact: Rachel Wingrad    858-966-8453    rwinograd@rchsd.org   
Principal Investigator: Lynne Bird, MD         
United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Wen-Hann Tan, BMBS       Wen-Hann.Tan@childrens.harvard.edu   
Contact: Jennifer Willen       jennifer.willen@childrens.harvard.edu   
Principal Investigator: Wen-Hann Tan, BMBS         
United States, Ohio
Cincinnati Children's Hospital Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Logan K Wink, MD       Logan.Wink@cchmc.org   
Contact: Tori Schaefer    (513) 803-3740    Tori.Schaefer@cchmc.org   
Principal Investigator: Logan K Wink, PhD         
United States, South Carolina
Greenwood Genetic Center Recruiting
Greenwood, South Carolina, United States, 29646
Contact: Steven A. Skinner, MD    864-941-8164    sas@ggc.org   
Principal Investigator: Steven A. Skinner, MD         
United States, Tennessee
Vanderbilt University Recruiting
Nashville, Tennessee, United States, 37232-4315
Contact: Amy Wilson, MA    731-612-4983    amy.k.wilson@vanderbilt.edu   
Principal Investigator: Elisabeth Dykens, PhD         
United States, Texas
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: Beverly Feldman, RN    832-822-4280    bfeldman@bcm.tmc.edu   
Principal Investigator: Carlos A. Bacino, MD         
Sponsors and Collaborators
University of California, San Diego
Rady Children's Hospital, San Diego
Texas Children's Hospital
Children's Hospital Boston
Greenwood Genetic Center
Vanderbilt University
Children's Hospital Medical Center, Cincinnati
Investigators
Principal Investigator: Carlos A. Bacino, MD Baylor College of Medicine, Department of Molecular and Human Genetics
Principal Investigator: Lynne Bird, MD Rady Children's Hospital San Diego, UCSD Dept of Pediatrics
Principal Investigator: Steven A. Skinner, MD Greenwood Genetic Center
Principal Investigator: Wen-Hann Tan, BMBS Children's Hospital Boston
Principal Investigator: Elisabeth Dykens, PhD Vanderbilt University
Principal Investigator: Logan K Wink, MD Children's Hospital Medical Center, Cincinnati
  More Information

Publications:
Responsible Party: Lynne M. Bird, Principal Investigator, University of California, San Diego
ClinicalTrials.gov Identifier: NCT00296764     History of Changes
Other Study ID Numbers: RDCRN 5203, U54 RR019478, ARP 5203
Study First Received: February 24, 2006
Last Updated: July 1, 2013
Health Authority: United States: Federal Government

Keywords provided by University of California, San Diego:
Happy Puppet Syndrome
Developmental Disorders

Additional relevant MeSH terms:
Angelman Syndrome
Syndrome
Disease
Pathologic Processes
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 22, 2014