Rett SyndromeRDCRNNCT02670694
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
An observational study of Rett Syndrome and Prader-Willi Syndrome, run by Baylor College of Medicine at 9 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 1 year to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome
- How many people
- 804 participants
- Where
- 9 sitesUnited States
- Study dates
- Jun 2011to Jul 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: This research study will investigate sleep behavior in the rare neurological disorders Angelman Syndrome (AS), Rett Syndrome (RTT) and Prader-Willi Syndrome (PWS).
Who may be able to join
- 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).
- Must have a sibling with either AS, RTT or PWS enrolled in the study.
Show all 9Show fewer
- 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).
Who cannot join
- 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.
- Diagnosis of a neurological disorder.
- Diagnosis of a severe genetic disorder.
- Be over 19 years of age inclusive.
Trial locations and contacts
9 sites in 1 country.
9 sites in 1 country
United States9 sites
University of Alabama at Birmingham
Birmingham, Alabama, 35233
Children's Hospital Boston
Boston, Massachusetts, 02115
University of Florida College of Medicine
Gainesville, Florida, 32601
Greenwood Genetic Center
Greenwood, South Carolina, 29646
Baylor College of Medicine
Houston, Texas, 77030
University of California, Irvine Medical Center
Irvine, California, 92868
Kansas University Medical Center
Kansas City, Kansas, 66160
Vanderbilt University
Nashville, Tennessee, 37240
Rady Children's Hospital
San Diego, California, 92123
About this study
Official title: Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi
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.
Read more
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.
Read the detailed 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).
- Keywords
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Medical subject headings
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Parasomnias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. | |
| 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. | |
| 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. | |
| Control | Siblings of RTT, AS and PW subjects will serve as control subjects. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in sleep behavior as measured by the child's sleep habits questionnaire (CSHQ) for Rett Syndrome, Angleman and control group
Measured: Change from Baseline sleep behaviors at 24 months
Secondary outcomes (6)
Pediatric Sleep Questionnaire (PSQ) - Sleep Disordered Breathing Subscale
Measured: Change from Baseline sleep behaviors at 24 months
Child's Sleep Habits Questionnaire (CSHQ) (ages 0-19)
Measured: Change from Baseline sleep behaviors at 24 months
Pediatric Daytime Sleepiness Scale (PDSS) (ages 6-19)
Measured: Change from Baseline sleep behaviors at 24 months
Cleveland Adolescent Sleepiness Questionnaire (CASQ) (ages 6-19)
Measured: Change from Baseline sleep behaviors at 24 months
Narcolepsy Questionnaire (ages 0-19)
Measured: Change from Baseline sleep behaviors at 24 months
Unique Questionnaire (ages 0-19)
Measured: Change from Baseline sleep behaviors at 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2016 (estimated)
- Study startJun 2011
- Primary completionJul 2013
- Study completionJul 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rett SyndromeStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 804 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Boston Children's Hospital, University of California, San Diego, Greenwood Genetic Center, University of Florida, Vanderbilt University, University of Kansas Medical Center, University of California, Irvine, University of Alabama at Birmingham
- Responsible party
- Principal investigator, Daniel Glaze, Baylor College of Medicine
- Investigators
- Daniel Glaze, MD, Study chair, Baylor College of MedicineAlan Percy, MD, Study director, University of Alabama at BirminghamSanjeev Kothare, MD, Principal investigator, Harvard Medical School, Children's Hospital Boston
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02670694
- Sponsor's protocol ID
- H-26535
- Acronym
- RDCRN
- Status last verified
- Jan 2016
- First submitted
- 6 Nov 2015
- Last updated
- 2 Feb 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Feb 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome, Rett Syndrome, and Prader Willi
- ClinicalTrials.gov ID
- NCT02670694
- Acronym / sponsor ID
- RDCRN / H-26535
- Keywords
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 804 participants (actual)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Collaborators
- Boston Children's Hospital, University of California, San Diego, Greenwood Genetic Center, University of Florida, Vanderbilt University, University of Kansas Medical Center, University of California, Irvine, University of Alabama at Birmingham
- Study start
- Jun 2011
- Primary completion
- Jul 2013 (actual)
- Study completion
- Jul 2013 (actual)
- First posted
- 2 Feb 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 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).
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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. |
| 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. |
| 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. |
| Control | – | –Siblings of RTT, AS and PW subjects will serve as control subjects. |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- This research study will investigate sleep behavior in the rare neurological disorders Angelman Syndrome (AS), Rett Syndrome (RTT) and Prader-Willi Syndrome (PWS).
Key inclusion criteria (9 listed)
- 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).
Key exclusion criteria (6 listed)
- 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.
- Diagnosis of a neurological disorder.
- Diagnosis of a severe genetic disorder.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
6 secondary outcomes
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Feb 2016.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Daniel Glaze, MD study chair
Baylor College of Medicine
Alan Percy, MD study director
University of Alabama at Birmingham
Sanjeev Kothare, MD principal investigator
Harvard Medical School, Children's Hospital Boston
9 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rett Syndrome and Prader-Willi Syndrome, run by Baylor College of Medicine at 9 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Feb 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Feb 2016.