Characterization of Angelman Syndrome

NCT00296764 | Completed

• 2 other identifiers: RDCRN 5203U54RR019478
• Study Type: observational
• Target: 302
• Locations: 1 country
• Sites: 6

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.

Conditions

Angelman Syndrome

Keywords

Developmental Disorders

Outcome Measures

Primary Outcomes (2)

• medical morbidity

  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

  annually

• developmental progress

  Assess with a variety of neuropsychological instruments, including Bayley Scales of Infant Development, Vineland Adaptive Behavior Scales, Preschool Language Scale

  annually

Secondary Outcomes (1)

• autism

  annually

Eligibility Criteria

• Age: 1 Day - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• Does not meet diagnostic criteria for Angelman Syndrome
• Other medical or genetic disorders (except autism)
• Born extremely premature

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Rady Children's Hospital, San Diego: collaborator
• Baylor College of Medicine: collaborator
• Greenwood Genetic Center: collaborator
• Children's Hospital Medical Center, Cincinnati: collaborator
• Vanderbilt University Medical Center: collaborator
• National Center for Research Resources (NCRR): collaborator

Study Sites (6)

Rady Children's Hospital San Diego

San Diego, California, 92123, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Cincinnati Children's Hospital and Medical Center

Cincinnati, Ohio, 45229, United States

Location

Greenwood Genetic Center

Greenwood, South Carolina, 29646, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Related Publications (10)

• 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. doi: 10.1038/sj.ejhg.5201264.

  PMID: 15470370 BACKGROUND

• Peters SU, Beaudet AL, Madduri N, Bacino CA. Autism in Angelman syndrome: implications for autism research. Clin Genet. 2004 Dec;66(6):530-6. doi: 10.1111/j.1399-0004.2004.00362.x.

  PMID: 15521981 BACKGROUND

• 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. doi: 10.1136/jmg.2003.013813.

  PMID: 14985376 BACKGROUND

• Smith JC. Angelman syndrome: evolution of the phenotype in adolescents and adults. Dev Med Child Neurol. 2001 Jul;43(7):476-80. doi: 10.1017/s0012162201000871.

  PMID: 11463179 BACKGROUND

• 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. doi: 10.1002/ajmg.1316.

  PMID: 11343340 BACKGROUND

• Frohlich J, Chiang JN, Mediano PAM, Nespeca M, Saravanapandian V, Toker D, Dell'Italia J, Hipp JF, Jeste SS, Chu CJ, Bird LM, Monti MM. Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics. Commun Biol. 2022 Dec 15;5(1):1374. doi: 10.1038/s42003-022-04331-7.

  PMID: 36522453 DERIVED

• Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry. 2021 Jul;26(7):3625-3633. doi: 10.1038/s41380-020-0858-6. Epub 2020 Aug 13.

  PMID: 32792659 DERIVED

• Frohlich J, Miller MT, Bird LM, Garces P, Purtell H, Hoener MC, Philpot BD, Sidorov MS, Tan WH, Hernandez MC, Rotenberg A, Jeste SS, Krishnan M, Khwaja O, Hipp JF. Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes. Biol Psychiatry. 2019 May 1;85(9):752-759. doi: 10.1016/j.biopsych.2019.01.008. Epub 2019 Jan 19.

  PMID: 30826071 DERIVED

• 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.

  PMID: 25283752 DERIVED

• 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.

  PMID: 25071871 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood and cheek swab samples

MeSH Terms

Conditions

Angelman Syndrome; Developmental Disabilities

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• 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

  STUDY CHAIR

• 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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Site PI (Lead PI: Lynne M. Bird, MD - Univ. of California, San Diego)

Study Record Dates

• First Submitted: February 24, 2006
• First Posted: February 27, 2006
• Study Start: February 1, 2006
• Primary Completion: August 1, 2014
• Study Completion: August 1, 2014
• Last Updated: March 2, 2021

Record last verified: 2021-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (6)