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Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe)

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ClinicalTrials.gov Identifier: NCT03196323
Recruitment Status : Recruiting
First Posted : June 22, 2017
Last Update Posted : June 26, 2017
Sponsor:
Collaborators:
National Institutes of Health (NIH)
National Center for Advancing Translational Science (NCATS)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of South Florida

Brief Summary:

The overall purpose of this study is to develop a broad-based (i.e., multiple domains) behavioral outcome measure for children between the ages of 3-18 years with Rett syndrome (RTT). The innovative approach of this proposal consists of integrating the process of developing a behavioral questionnaire to an ongoing large-scale data collection project. The Natural History Study of Rett Syndrome and Related Disorders (RTT5211) is a project that collects data on diverse aspects of the clinical evolution of individuals with RTT and related disorders. This project will serve as the basis for recruitment of subjects and it will also provide key demographic and clinical data for cohort characterization and for determining clinical relevance of the instrument (RettBe). An initial 100-subject cohort will allow for the testing with one rater of RettBe 1.0, a 50-item questionnaire formed from existing measures, a panel of clinicians and behavioral experts in RTT, and a focus group of parents and caregivers of children with RTT. Scores on RettBe 1.0 will be statistically analyzed to determine their psychometric properties, including its content validity. Items that do not meet psychometric standards (e.g., ceiling effect) will be eliminated.

Additional items will be added if the parental survey attached to RettBe 1.0 or clinician input suggests so. The resulting modified assessment, called RettBe 2.0, will be administered to a larger (validation) cohort of 300 participants. RettBe 2.0 will also be subjected to analysis of psychometric properties. RettBe 2.0 will also be administered to two raters per subject, in order to determine inter-rater reliability. In addition, these raters will be completing other behavioral and clinical measures for further evaluating the validity of RettBe 2.0 as well as for determining its clinical and functional significance. Finally, the investigators will obtain input from a panel of clinicians (site PIs and their designated clinicians) about content validity and clinical impact. The resulting version will be released as RettBe 3.0.


Condition or disease
Rett Syndrome

  Show Detailed Description

Study Type : Observational
Estimated Enrollment : 400 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Development of a Behavioral Outcome Measure for Rett Syndrome (RettBe)
Actual Study Start Date : June 1, 2017
Estimated Primary Completion Date : March 2019
Estimated Study Completion Date : March 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Rett Syndrome
U.S. FDA Resources

Group/Cohort
Initial Cohort
In Aim 1, the investigators will evaluate psychometrically RettBe 1.0 following, in part, previous studies including our examination of anxiety instruments and adaptation of the Anxiety, Depression and Mood Scale (ADAMS) for RTT, and their adaptations of the Aberrant Behavior Checklist-Community (ABC-C) for fragile X syndrome and Down syndrome. In Aim 1, the investigators will also refine RettBe 1.0 by adding new "missing" items based on parental input or clinician (PIs of sites involved) feedback. The resulting instrument, RettBe 2.0 will be tested in Aim 2.
Validation Cohort
Testing of RettBe 2.0 will be carried out with a new (naïve) validation cohort of 300 subjects and two raters (preferentially both parents/caregivers, alternatively one teacher or therapist), to determine inter-rater reliability. One rater, preferentially a parent, will be asked to also complete three other behavioral measures (RSBQ, ADAMS, ABC-C) for comparisons. Scores for RettBe 2.0 will be analyzed in terms of psychometric properties, as performed for RettBe 1.0. However, in addition to structure (construct validity) and content validity, the investigators will also examine convergent and discriminant validity by correlating domain RettBe 2.0 scores with those of comparable and non-comparable domain scores of the RSBQ, ADAMS, and ABC-C, respectively.



Primary Outcome Measures :
  1. RettBE 1.0 Score [ Time Frame: 8 months ]
    Scores from RettBe 1.0, a 50-item questionnaire will be analyzed for psychometric properties, including content validity. RettBe 1.0 scores will be subjected to factor analysis to ensure domain-appropriate balance and structure.

  2. RettBe 2.0 Score [ Time Frame: 8 months ]
    RettBe 2.0 will be analyzed for psychometric properties. In addition, these raters will be completing other behavioral and clinical/functional measures for further evaluating the validity of RettBe 2.0 as well as for determining its clinical and functional significance (Aim 3). RettBe 2.0 will be subjected to factor analysis to ensure domain-appropriate balance and structure.

  3. RettBe 3.0 Score [ Time Frame: 8 months ]
    RettBe 3.0 scores will be subjected to factor analysis to ensure domain-appropriate balance and structure.



Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Sampling Method:   Probability Sample
Study Population

A total of 400 subjects with RTT between the ages of 3 and 18 years of age will be recruited from RTT5211, which collects longitudinal clinical and neurobehavioral data in RTT and related disorders. This study will only include participants who meet 2010 diagnostic criteria for classic or atypical RTT and have a MECP2 mutation.

Recruitment into this study will come from the larger cohort of those enrolled in the Natural History Study (RTT5211), a study aiming at enrolling 1000 participants with RTT. As a part of the Natural History Study (RTT5211), subjects provide their email address. RTT5211 participants will be emailed an invitation to join this study. Consent and study participation will be done online via a unique link in the invitation.

Criteria

Inclusion Criteria

RettBe 1.0 Initial Cohort:

  • Females 3 - 18 years
  • Meets revised 2010 diagnostic criteria for classic or atypical RTT
  • Post-regression status
  • Documentation of positive MECP2 mutation
  • Enrolled in the Natural History Study (RTT5211)

RettBe 2.0 Validation Cohort:

  • Meet above criteria
  • Two raters are available and willing to evaluate the subject
  • Must not have participated in RettBe 1.0

Exclusion Criteria

Both RettBe 1.0 and RettBe 2.0:

  • Do not meet the above inclusion criteria
  • Foster children
  • Non-English speakers

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03196323


Contacts
Contact: Amy Holbert, MA 813-396-9567 Amy.Holbert@epi.usf.edu

Locations
United States, Florida
University of South Florida Recruiting
Tampa, Florida, United States, 33612
Contact: Amy Holbert, MA    813-396-9567    amy.holbert@epi.usf.edu   
Sponsors and Collaborators
University of South Florida
National Institutes of Health (NIH)
National Center for Advancing Translational Science (NCATS)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
National Institute of Neurological Disorders and Stroke (NINDS)

Publications:
Aman MG, Singh NN (1986) Aberrant Behavior Checklist-Community manual. East Aurora, NY: Slosson Educational publications.

Responsible Party: University of South Florida
ClinicalTrials.gov Identifier: NCT03196323     History of Changes
Other Study ID Numbers: RTT5214
First Posted: June 22, 2017    Key Record Dates
Last Update Posted: June 26, 2017
Last Verified: June 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Syndrome
Rett Syndrome
Disease
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System