Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 804
- 试验地点
- 9
- 主要终点
- Change in sleep behavior as measured by the child's sleep habits questionnaire (CSHQ) for Rett Syndrome, Angleman and control group
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Year 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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).
排除标准
- •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.
结局指标
主要结局
Change in sleep behavior as measured by the child's sleep habits questionnaire (CSHQ) for Rett Syndrome, Angleman and control group
时间窗: Change from Baseline sleep behaviors at 24 months
次要结局
- 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)
- Unique Questionnaire (ages 0-19)(Change from Baseline sleep behaviors at 24 months)
研究者
Daniel Glaze
Principal Investigator
Baylor College of Medicine