Clinical Studies
5207: Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome (AS), Rett Syndrome (RTT), and Prader-Willi Syndrome (PWS)
Status: Recruiting
Summary:
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
Background
This research study will investigate sleep behavior in the rare neurological disorders Angelman Syndrome (AS), Rett Syndrome (RTT) and Prader-Willi Syndrome (PWS). Sleep is very important to proper health and plays a critical role in learning, memory, brain development and brain function. Sleep disturbances can have negative effects on health and the quality of life of children and their families. Sleep disorders are common in individuals with AS, RTT or PWS. As a result, individuals with AS, RTT or PWS are at risk for sleep-related health problems that can worsen existing daytime behaviors and lead to additional problems with learning and memory.
The principal objectives of the study are to:
- Characterize sleep behavior in individuals with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome
- Compare sleep behavior in these individuals with sleep behavior in normal controls
- Assess the natural history of sleep behavior in individuals with Angelman Syndrome, Rett Syndrome and Prader-Willi Syndrome
About this Study
This is a questionnaire study that will evaluate the sleep behavior of individuals with AS, RTT or PWS (participants), or unaffected siblings of individuals with AS, RTT or PWS (controls). Those participating in the study will already be registered with the Rare Disease Clinical Research Network (RDCRN) and have a confirmed diagnosis of AS, RTT or PWS or be an unaffected sibling. We will look at the medical records on file with the RDCRN to confirm diagnosis of AS, RTT or PWS. Study participants will participate in the study at their regularly scheduled RDCRN clinic visits. Participants will be asked to complete questionnaires at the study visits that will document their sleep behaviors.
The questionnaires are not difficult and participants should be able to complete them in approximately 15-30 minutes. Parents and legal guardians are allowed to assist participants or answer on their behalf. Questionnaires will be administered at the initial study visit and at a 12 month follow-up visit to document any changes in sleep behavior. We hope to enroll approximately 1400 individuals with either AS, RTT or PWS or their unaffected siblings.
Targeted Enrollment
To be eligible to participate as a study subject, you must:
- Be enrolled in a RDCRN consortium registry for either AS, RTT or PWS.
- Have a clinical diagnosis of AS, RTT or PWS.
- Be between 0 to 19 years of age.
- Be English-speaking (study questionnaires will only be available in English).
To be eligible to participate as a control subject, you 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 to 19 years of age.
- Be English-speaking (study questionnaires will only be available in English).
For more information about this study, please contact:
Aryn Knight
Baylor College of Medicine
Phone: 832-822-3751
E-mail: axknight@texaschildrens.org
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