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Sponsors and Collaborators: |
Office of Rare Diseases (ORD) Rare Diseases Clinical Research Network |
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Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00296764 |
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 |
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Angelman Syndrome |
Study Type: | Observational |
Study Design: | Case-Only, Prospective |
Official Title: | Angelman's Syndrome Natural History |
Blood and mucusal samples
Estimated Enrollment: | 320 |
Study Start Date: | February 2006 |
Estimated Study Completion Date: | September 2008 |
Estimated Primary Completion Date: | September 2008 (Final data collection date for primary outcome measure) |
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.
Ages Eligible for Study: | up to 60 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Current or future patient at one of the following institutions: Baylor College of Medicine; Children's Hospital San Diego; Boston Children's Hospital; or Greenwood Genetic Center
Inclusion Criteria:
Major Criteria:
Minor Criteria:
Exclusion Criteria:
Contact: Carlos A. Bacino, MD | 832-822-4292 | cbacino@bcm.tmc.edu |
United States, California | |
Children's Hospital and Health Center | Recruiting |
San Diego, California, United States, 92123 | |
Contact: Lynne M. Bird, MD 858-966-5840 lbird@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 | |
Principal Investigator: Wen-Hann Tan, BMBS | |
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: Terry Jo Bichell 615-322-8093 terry.jo.bichell@vanderbilt.edu | |
Principal Investigator: Marshall L. Summar, MD | |
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 |
Principal Investigator: | Carlos A. Bacino, MD | Baylor College of Medicine, Department of Molecular and Human Genetics |
Principal Investigator: | Lynne Bird, MD | Children's Hospital San Diego, Department of Pediatrics |
Principal Investigator: | Steven A. Skinner, MD | Greenwood Genetic Center |
Principal Investigator: | Wen-Hann Tan, BMBS | Children's Hospital Boston |
Responsible Party: | Baylor College of Medicine ( Carlos A. Bacino ) |
Study ID Numbers: | RDCRN 5203, U54 RR019478, ARP 5203 |
Study First Received: | February 24, 2006 |
Last Updated: | September 2, 2008 |
ClinicalTrials.gov Identifier: | NCT00296764 |
Health Authority: | United States: Federal Government |
Happy Puppet Syndrome Developmental Disorders |
Chromosomal abnormalities Developmental Disabilities Angelman syndrome Genetic Diseases, Inborn Movement Disorders |
Chromosome Disorders Abnormalities, Multiple Central Nervous System Diseases Angelman Syndrome Congenital Abnormalities |
Pathologic Processes Disease Syndrome Nervous System Diseases |