Clinical Trial: Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi
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:
- 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.
Detailed Summary:
Subjects with AS, RTT or PWS and normal siblings (controls) will be recruited for study participation.
Subjects will be recruited from the Rare Disease Clinical Research Network (RDCRN) consortium registries for AS, RTT and PWS. The RDCRN registries provide listings of individuals currently enrolled in the RDCRN along with clinical and genetic diagnosis, medical history and contact information.
The RDCRN consortium sites for AS, RTT and PWS will participate in the study. These sites will recruit study participants, obtain informed consent and administer the sleep questionnaires. Institutional Review Board (IRB) approval will be obtained at each RDCRN consortium site.
"Subjects" is defined as those children with a diagnosis of AS, PWS, and RTT. Subjects will be divided into separate study arms based upon their medical diagnosis. Study arms will consist of: 1) AS group, 2) PWS group, 3) RTT group, and 4) control group. "Control group" is defined as normal healthy siblings of subjects.
Study participants and parents/guardians will be asked to complete the study questionnaires during the clinic visit. The questionnaires are brief and should not be difficult to complete. It is anticipated that the questionnaires can be completed in 15-30 minutes. If parents are unable to complete the questionnaires at the time of their scheduled clinic visit they will be asked to take the questionnaires home to complete and to mail them back to the research team. When the research team receives the returned questionnaires they will be reviewed for completion. If questions are skipped or left blank, a member of the research team will call the family to complete the missed questions over the phone.
Same as current
Current Secondary Outcome:
- 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 ]
Original Secondary Outcome: Same as current
Information By: Baylor College of Medicine
Dates:
Date Received: November 6, 2015
Date Started: June 2011
Date Completion:
Last Updated: February 1, 2016
Last Verified: January 2016
