Trial record 9 of 23 for: angelman

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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

Study Description

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.

Condition or disease
Angelman Syndrome

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 Design


Study Type :	Observational
Estimated Enrollment :	400 participants
Observational Model:	Case-Only
Time Perspective:	Prospective
Official Title:	Angelman Syndrome Natural History Study
Study Start Date :	February 2006
Estimated Primary Completion Date :	September 2020
Estimated Study Completion Date :	September 2020

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: Angelman syndrome

Genetic and Rare Diseases Information Center resources: Angelman Syndrome

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :

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

Secondary Outcome Measures :

autism [ Time Frame: annually ]
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

Eligibility Criteria

Information from the National Library of Medicine

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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

Study Population

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

Criteria

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

Contacts and Locations

Information from the National Library of Medicine

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

Locations


United States, California
Rady Children's Hospital San Diego
San Diego, California, United States, 92123
United States, Massachusetts
Childrens Hospital Boston
Boston, Massachusetts, United States, 02115
United States, Ohio
Cincinnati Children's Hospital
Cincinnati, Ohio, United States, 45229
United States, South Carolina
Greenwood Genetic Center
Greenwood, South Carolina, United States, 29646
United States, Texas
Baylor College of Medicine
Houston, Texas, United States, 77030

Sponsors and Collaborators

University of California, San Diego

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

More Information

Publications:

Varela MC, Kok F, Otto PA, Koiffmann CP. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet. 2004 Dec;12(12):987-92.

Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet. 2004 Dec;66(6):530-6.

Locke DP, Segraves R, Nicholls RD, Schwartz S, Pinkel D, Albertson DG, Eichler EE. BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications. J Med Genet. 2004 Mar;41(3):175-82.

Smith JC. Angelman syndrome: evolution of the phenotype in adolescents and adults. Dev Med Child Neurol. 2001 Jul;43(7):476-80.

Williams CA, Lossie A, Driscoll D; R.C. Phillips Unit. Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet. 2001 Jun 1;101(1):59-64. Review.

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK. Pubertal development in Rett syndrome deviates from typical females. Pediatr Neurol. 2014 Dec;51(6):769-75. doi: 10.1016/j.pediatrneurol.2014.08.013. Epub 2014 Aug 29.

Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK. Developmental delay in Rett syndrome: data from the natural history study. J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22.


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 U54RR019478 ( U.S. NIH Grant/Contract )
First Posted:	February 27, 2006 Key Record Dates
Last Update Posted:	November 30, 2016
Last Verified:	November 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

Keywords provided by Lynne M. Bird, 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

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