Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW (RDCRN)
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ClinicalTrials.gov Identifier: NCT02670694 |
Recruitment Status :
Completed
First Posted : February 2, 2016
Last Update Posted : February 2, 2016
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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:
- To see how common sleep disorders are in individuals with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome;
- To see how sleep disorders affect behavior in these individuals;
- To see whether sleep disorders and related behavior problems improve or worsen with age;
- To see how specific disease conditions relate to sleep disorders and how bad the sleep disorders are;
- To develop new treatment options to improve quality of life and behavior issues; and
- To evaluate current treatment options to improve sleep problems in these individuals.
Condition or disease |
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Rett Syndrome Prader-Willi Syndrome Angelman Syndrome Sleep Problems |

Study Type : | Observational |
Actual Enrollment : | 804 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
Official Title: | Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi |
Study Start Date : | June 2011 |
Actual Primary Completion Date : | July 2013 |
Actual Study Completion Date : | July 2013 |

Group/Cohort |
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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.
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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.
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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.
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Control
Siblings of RTT, AS and PW subjects will serve as control subjects.
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- Change in sleep behavior as measured by the child's sleep habits questionnaire (CSHQ) for Rett Syndrome, Angleman and control group [ Time Frame: Change from Baseline sleep behaviors at 24 months ]
- Pediatric Sleep Questionnaire (PSQ) - Sleep Disordered Breathing Subscale [ Time Frame: Change from Baseline sleep behaviors at 24 months ]
- Child's Sleep Habits Questionnaire (CSHQ) (ages 0-19) [ Time Frame: Change from Baseline sleep behaviors at 24 months ]
- Pediatric Daytime Sleepiness Scale (PDSS) (ages 6-19) [ Time Frame: Change from Baseline sleep behaviors at 24 months ]
- Cleveland Adolescent Sleepiness Questionnaire (CASQ) (ages 6-19) [ Time Frame: Change from Baseline sleep behaviors at 24 months ]
- Narcolepsy Questionnaire (ages 0-19) [ Time Frame: Change from Baseline sleep behaviors at 24 months ]
- Unique Questionnaire (ages 0-19) [ Time Frame: Change from Baseline sleep behaviors at 24 months ]

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Ages Eligible for Study: | 1 Year to 18 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
Eligible Inclusion Criteria - Subjects
- 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).
Inclusion Criteria - Controls
- 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).
Exclusion Criteria:
Exclusion Criteria - Subjects
- 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.
Exclusion Criteria - Controls
- Diagnosis of a neurological disorder.
- Diagnosis of a severe genetic disorder.
- Be over 19 years of age inclusive.

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): NCT02670694
United States, Alabama | |
University of Alabama at Birmingham | |
Birmingham, Alabama, United States, 35233 | |
United States, California | |
University of California, Irvine Medical Center | |
Irvine, California, United States, 92868 | |
Rady Children's Hospital | |
San Diego, California, United States, 92123 | |
United States, Florida | |
University of Florida College of Medicine | |
Gainesville, Florida, United States, 32601 | |
United States, Kansas | |
Kansas University Medical Center | |
Kansas City, Kansas, United States, 66160 | |
United States, Massachusetts | |
Children's Hospital Boston | |
Boston, Massachusetts, United States, 02115 | |
United States, South Carolina | |
Greenwood Genetic Center | |
Greenwood, South Carolina, United States, 29646 | |
United States, Tennessee | |
Vanderbilt University | |
Nashville, Tennessee, United States, 37240 | |
United States, Texas | |
Baylor College of Medicine | |
Houston, Texas, United States, 77030 |
Study Chair: | Daniel Glaze, MD | Baylor College of Medicine | |
Study Director: | Alan Percy, MD | University of Alabama at Birmingham | |
Principal Investigator: | Sanjeev Kothare, MD | Harvard Medical School, Children's Hospital Boston |
Responsible Party: | Daniel Glaze, Principal Investigator, Baylor College of Medicine |
ClinicalTrials.gov Identifier: | NCT02670694 |
Other Study ID Numbers: |
H-26535 |
First Posted: | February 2, 2016 Key Record Dates |
Last Update Posted: | February 2, 2016 |
Last Verified: | January 2016 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Rett Syndrome Prader-Willi Syndrome Angelman Syndrome Sleep Problems |
Angelman Syndrome Prader-Willi Syndrome Rett Syndrome Dyssomnias Parasomnias Genetic Diseases, Inborn Syndrome Disease Pathologic Processes Congenital Abnormalities Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations |
Nervous System Diseases Abnormalities, Multiple Chromosome Disorders Obesity Overnutrition Nutrition Disorders Mental Retardation, X-Linked Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Sleep Wake Disorders Mental Disorders Movement Disorders Central Nervous System Diseases |