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Characterization of Angelman Syndrome

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ClinicalTrials.gov Identifier: NCT00296764
Recruitment Status : Active, not recruiting
First Posted : February 27, 2006
Last Update Posted : November 30, 2016
Sponsor:
Collaborators:
Rady Children's Hospital, San Diego
Texas Children's Hospital
Boston Children’s Hospital
Greenwood Genetic Center
Children's Hospital Medical Center, Cincinnati
National Center for Research Resources (NCRR)
Information provided by (Responsible Party):
Lynne M. Bird, University of California, San Diego

Tracking Information
First Submitted Date February 24, 2006
First Posted Date February 27, 2006
Last Update Posted Date November 30, 2016
Study Start Date February 2006
Estimated Primary Completion Date September 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 1, 2013)
  • 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
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00296764 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: July 1, 2013)
autism [ Time Frame: annually ]
Evaluate for autism spectrum disorder using Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Characterization of Angelman Syndrome
Official Title Angelman Syndrome Natural History Study
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 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.
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 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
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood and cheek swab samples
Sampling Method Non-Probability Sample
Study Population Patients with Angelman syndrome (molecular or clinical diagnosis) between the ages of 1 day and 60 years.
Condition Angelman Syndrome
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: November 4, 2014)
400
Original Enrollment
 (submitted: February 24, 2006)
320
Estimated Study Completion Date September 2020
Estimated Primary Completion Date September 2020   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages up to 60 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00296764
Other Study ID Numbers RDCRN 5203
U54RR019478 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Lynne M. Bird, University of California, San Diego
Study Sponsor University of California, San Diego
Collaborators
  • Rady Children's Hospital, San Diego
  • Texas Children's Hospital
  • Boston Children’s Hospital
  • Greenwood Genetic Center
  • Children's Hospital Medical Center, Cincinnati
  • National Center for Research Resources (NCRR)
Investigators
Principal Investigator: Carlos A. Bacino, MD Baylor College of Medicine, Department of Molecular and Human Genetics
Principal Investigator: 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 Childrens Hospital Boston
Principal Investigator: Logan K Wink, MD Children's Hospital Medical Center, Cincinnati
PRS Account University of California, San Diego
Verification Date November 2016