The Diagnostic Experience of Male Rett Syndrome

March 28, 2024 updated by: Tim Benke, MD, Children's Hospital Colorado

The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs.

Enrolled participants will complete an online survey with questions about having a son with Rett Syndrome. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers to boys (alive or passed) with Rett Syndrome. Compensation is not provided.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

80

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Recruiting
        • University of Colorado Anschutz Medical Campus
        • Principal Investigator:
          • Timothy Benke, MD, PhD
        • Contact:
        • Sub-Investigator:
          • Talia Thompson, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Parents/caregivers to boys with Rett syndrome

Description

Inclusion Criteria:

  • English-speaking parents (over the age of 18) of male children (all ages, alive or deceased) with confirmed genetic diagnosis of male RTT

Exclusion Criteria:

  • parents of male MECP2 duplication syndrome

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Diagnostic experiences
Time Frame: retrospective from birth
Qualitative interview
retrospective from birth
Attainment of developmental milestones and any regressions
Time Frame: retrospective from birth
Remote survey of developmental milestones, reported in months
retrospective from birth
QI-disability
Time Frame: retrospective over prior month
"QI-Disability" is a published remote survey of symptom ratings that are combined into an aggregate score of quality of life
retrospective over prior month
Parent priorities for care and counseling
Time Frame: retrospective from birth
Remote survey the asks parents to prioritize with a rating scale their priorities for patient care
retrospective from birth
Parenting experience
Time Frame: retrospective from birth
Remote survey the asks parents to rate with a rating scale their parenting experience
retrospective from birth
Information regarding child's death, if applicable
Time Frame: retrospective from birth
Questionnaire that asks parents about the details of their child's death, if applicable
retrospective from birth

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Family demographics
Time Frame: retrospective, over last 12 months
Questionnaire
retrospective, over last 12 months
Systems of supports
Time Frame: retrospective, over last 12 months
Questionnaire
retrospective, over last 12 months
Healthcare preferences
Time Frame: retrospective, over last 12 months
Questionnaire
retrospective, over last 12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital Colorado

Collaborators

University of Colorado, Denver
University of Pennsylvania
University of Alabama at Birmingham
Vanderbilt University School of Medicine
International Rett Syndrome Foundation
Rocky Mountain Rett Association

Investigators

  • Principal Investigator: Timothy Benke, MD, PhD, University of Colorado, Denver

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 24, 2023

Primary Completion (Estimated)

April 30, 2024

Study Completion (Estimated)

April 30, 2024

Study Registration Dates

First Submitted

February 7, 2024

First Submitted That Met QC Criteria

March 28, 2024

First Posted (Actual)

April 3, 2024

Study Record Updates

Last Update Posted (Actual)

April 3, 2024

Last Update Submitted That Met QC Criteria

March 28, 2024

Last Verified

March 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 23-0075

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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