Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW

NCT02670694 | Completed

• 1 other identifier: H-26535
• Study Type: observational
• Target: 804
• Locations: 1 country
• Sites: 9

Brief Summary

This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. These individuals will serve as control subjects. The study will use questionnaires designed to identify sleep disorders and how they affect behavior and quality of life. The principal goals of this study are:

1. 1.To see how common sleep disorders are in individuals with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome;
2. 2.To see how sleep disorders affect behavior in these individuals;
3. 3.To see whether sleep disorders and related behavior problems improve or worsen with age;
4. 4.To see how specific disease conditions relate to sleep disorders and how bad the sleep disorders are;
5. 5.To develop new treatment options to improve quality of life and behavior issues; and
6. 6.To evaluate current treatment options to improve sleep problems in these individuals.

Conditions

Rett Syndrome; Prader-Willi Syndrome; Angelman Syndrome; Sleep Problems

Keywords

Rett Syndrome; Prader-Willi Syndrome; Angelman Syndrome; Sleep Problems

Outcome Measures

Primary Outcomes (1)

• Change in sleep behavior as measured by the child's sleep habits questionnaire (CSHQ) for Rett Syndrome, Angleman and control group

  Change from Baseline sleep behaviors at 24 months

Secondary Outcomes (6)

• Pediatric Sleep Questionnaire (PSQ) - Sleep Disordered Breathing Subscale

  Change from Baseline sleep behaviors at 24 months

• Child's Sleep Habits Questionnaire (CSHQ) (ages 0-19)

  Change from Baseline sleep behaviors at 24 months

• Pediatric Daytime Sleepiness Scale (PDSS) (ages 6-19)

  Change from Baseline sleep behaviors at 24 months

• Cleveland Adolescent Sleepiness Questionnaire (CASQ) (ages 6-19)

  Change from Baseline sleep behaviors at 24 months

• Narcolepsy Questionnaire (ages 0-19)

  Change from Baseline sleep behaviors at 24 months

Study Arms (4)

Rett Syndrome

Children and adolescents, age between 0-19 years, with clinical diagnosis of Rett Syndrome; currently enrolled in the Rare Disease Clinical Research Network registry.

Angelman's Syndrome

Children and adolescents, age between 0-19 years, with clinical diagnosis of Angelman's Syndrome; currently enrolled in the Rare Disease Clinical Research Network registry.

Prader-Willi Syndrome

Children and adolescents, age between 0-19 years, with clinical diagnosis of Prader-Willi Syndrome; currently enrolled in the Rare Disease Clinical Research Network registry.

Control

Siblings of RTT, AS and PW subjects will serve as control subjects.

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This research study will investigate sleep behavior in the rare neurological disorders Angelman Syndrome (AS), Rett Syndrome (RTT) and Prader-Willi Syndrome (PWS).

You may qualify if:

• Enrollment in a RDCRN consortium registry for either AS, RTT or PWS.
• Have a clinical diagnosis of AS, RTT or PWS, or be a normal sibling of an individual with AS, RTT or PWS who is enrolled in the study.
• Be between 0 to18 years of age inclusive.
• Be English-speaking (study questionnaires will only be available in English).
• Must have a sibling with either AS, RTT or PWS enrolled in the study.
• Must not have a diagnosis of any neurological disorder.
• Be between 0 to18 years of age inclusive
• Be English-speaking (study questionnaires will only be available in English).

You may not qualify if:

• No clinical diagnosis of AS, RTT, or PWS.
• Diagnosis of a severe genetic disorder in addition to AS, RTT, or PWS.
• Be over 18 years of age inclusive.
• Diagnosis of a neurological disorder.
• Diagnosis of a severe genetic disorder.
• Be over 19 years of age inclusive.

Sponsors & Collaborators

• Baylor College of Medicine: lead
• Boston Children's Hospital: collaborator
• University of California, San Diego: collaborator
• Greenwood Genetic Center: collaborator
• University of Florida: collaborator
• Vanderbilt University: collaborator
• University of Kansas Medical Center: collaborator
• University of California, Irvine: collaborator
• University of Alabama at Birmingham: collaborator

Study Sites (9)

University of Alabama at Birmingham

Birmingham, Alabama, 35233, United States

Location

University of California, Irvine Medical Center

Irvine, California, 92868, United States

Location

Rady Children's Hospital

San Diego, California, 92123, United States

Location

University of Florida College of Medicine

Gainesville, Florida, 32601, United States

Location

Kansas University Medical Center

Kansas City, Kansas, 66160, United States

Location

Children's Hospital Boston

Boston, Massachusetts, 02115, United States

Location

Greenwood Genetic Center

Greenwood, South Carolina, 29646, United States

Location

Vanderbilt University

Nashville, Tennessee, 37240, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

MeSH Terms

Conditions

Rett Syndrome; Prader-Willi Syndrome; Angelman Syndrome; Parasomnias

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Abnormalities, Multiple; Congenital Abnormalities; Chromosome Disorders; Imprinting Disorders; Obesity; Overweight; Overnutrition; Nutrition Disorders; Nutritional and Metabolic Diseases; Movement Disorders; Central Nervous System Diseases; Sleep Wake Disorders; Mental Disorders

Study Officials

• Daniel Glaze, MD

  Baylor College of Medicine

  STUDY CHAIR

• Alan Percy, MD

  University of Alabama at Birmingham

  STUDY DIRECTOR

• Sanjeev Kothare, MD

  Harvard Medical School, Children's Hospital Boston

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: November 6, 2015
• First Posted: February 2, 2016
• Study Start: June 1, 2011
• Primary Completion: July 1, 2013
• Study Completion: July 1, 2013
• Last Updated: February 2, 2016

Record last verified: 2016-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (9)