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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02670694
Other study ID # H-26535
Secondary ID
Status Completed
Phase N/A
First received November 6, 2015
Last updated February 1, 2016
Start date June 2011
Est. completion date July 2013

Study information

Verified date January 2016
Source Baylor College of Medicine
Contact n/a
Is FDA regulated No
Health authority United States: Institutional Review Board
Study type Observational

Clinical Trial 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. To see how common sleep disorders are in individuals with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome;

2. To see how sleep disorders affect behavior in these individuals;

3. To see whether sleep disorders and related behavior problems improve or worsen with age;

4. To see how specific disease conditions relate to sleep disorders and how bad the sleep disorders are;

5. To develop new treatment options to improve quality of life and behavior issues; and

6. To evaluate current treatment options to improve sleep problems in these individuals.


Description:

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.

Parents/guardians are allowed to answer the questions on behalf of the study participants and will be asked to answer all the questions for each age-appropriate questionnaire in order for the responses to be scored correctly. Subjects with AS, RTT and PWS and normal siblings will complete the same questionnaire forms.

Study participants will be administered the questionnaires again in 12-24 months at a follow-up RDCRN clinic visit or by mail to assess the natural history of their sleep behavior and any sleep disorders.

Study participants identified as having a potential severe sleep disorder based on questionnaire responses will be contacted or sent a letter by the study investigators and advised to see a sleep specialist for further evaluation.

Potential "Subjects" must be members of the RDCRN consortium registries with available contact and clinical diagnostic information on file. These individuals will be invited to participate in the study at their next regularly scheduled RDCRN visit.

Study recruitment will continue for one year. Subjects with a clinical diagnosis of AS, RTT or PWS, or normal siblings of these individuals will be recruited for study participation.

The sample size of study participants, including controls, will be based upon the number of individuals currently enrolled in the RDCRN consortium registries. Currently the combined number of individuals in the AS, RTT and PWS RDCRN consortium registries is 1082. The breakdown by disorder is: 678 RTT, 172 AS, 141 PWS. Final sample size will be the total number of subjects consented during the one year recruitment period. A projected enrollment total would be approximately 1,000 total individuals ( 500 subjects including 300 RTT, 100 AS, 100 PWS & 500 controls).


Recruitment information / eligibility

Status Completed
Enrollment 804
Est. completion date July 2013
Est. primary completion date July 2013
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group 1 Year to 18 Years
Eligibility Inclusion Criteria:

Eligible Inclusion Criteria - Subjects

1. Enrollment in a RDCRN consortium registry for either AS, RTT or PWS.

2. 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.

3. Be between 0 to18 years of age inclusive.

4. Be English-speaking (study questionnaires will only be available in English).

Inclusion Criteria - Controls

1. Must have a sibling with either AS, RTT or PWS enrolled in the study.

2. Must not have a diagnosis of any neurological disorder.

3. Be between 0 to18 years of age inclusive

4. Be English-speaking (study questionnaires will only be available in English).

Exclusion Criteria:

Exclusion Criteria - Subjects

1. No clinical diagnosis of AS, RTT, or PWS.

2. Diagnosis of a severe genetic disorder in addition to AS, RTT, or PWS.

3. Be over 18 years of age inclusive.

Exclusion Criteria - Controls

1. Diagnosis of a neurological disorder.

2. Diagnosis of a severe genetic disorder.

3. Be over 19 years of age inclusive.

Study Design

Observational Model: Case Control, Time Perspective: Prospective


Locations

Country Name City State
United States University of Alabama at Birmingham Birmingham Alabama
United States Children's Hospital Boston Boston Massachusetts
United States University of Florida College of Medicine Gainesville Florida
United States Greenwood Genetic Center Greenwood South Carolina
United States Baylor College of Medicine Houston Texas
United States University of California, Irvine Medical Center Irvine California
United States Kansas University Medical Center Kansas City Kansas
United States Vanderbilt University Nashville Tennessee
United States Rady Children's Hospital San Diego California

Sponsors (9)

Lead Sponsor Collaborator
Baylor College of Medicine Children's Hospital Boston, Greenwood Genetic Center, University of Alabama at Birmingham, University of California, Irvine, University of California, San Diego, University of Florida, University of Kansas Medical Center, Vanderbilt University

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 No
Secondary Pediatric Sleep Questionnaire (PSQ) - Sleep Disordered Breathing Subscale Change from Baseline sleep behaviors at 24 months No
Secondary Child's Sleep Habits Questionnaire (CSHQ) (ages 0-19) Change from Baseline sleep behaviors at 24 months No
Secondary Pediatric Daytime Sleepiness Scale (PDSS) (ages 6-19) Change from Baseline sleep behaviors at 24 months No
Secondary Cleveland Adolescent Sleepiness Questionnaire (CASQ) (ages 6-19) Change from Baseline sleep behaviors at 24 months No
Secondary Narcolepsy Questionnaire (ages 0-19) Change from Baseline sleep behaviors at 24 months No
Secondary Unique Questionnaire (ages 0-19) Change from Baseline sleep behaviors at 24 months No
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