Recruiting

Observational StudyThe Diagnostic Experience of Male Rett Syndrome

Sponsor:

Children's Hospital Colorado

Code:

NCT06346106

Conditions

Rett Syndrome

RTT

Eligibility Criteria

Sex: Male

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

Male Rett

Study Details

Brief summary:

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.

Conditions

Rett Syndrome

RTT

Study ID

NCT06346106

Start date

May 24, 2023

Status verified date

Mar, 2024

Completion date

Apr 30, 2024

Anticipated

Primary completion date

Apr 30, 2024

Anticipated

Eligibility Criteria

Sex: Male

Age: 0 - 70+

Healthy Volunteers: Not accepted

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 Design

Enrollment

80 participants

Anticipated

Interventions and Outcome Measures

Interventions

Male Rett

This study does not have an intervention. Participants of this study must be parents or caregivers to boys with Rett syndrome.

Primary outcome measure

Diagnostic experiences [ Time Frame: retrospective from birth ]
Attainment of developmental milestones and any regressions [ Time Frame: retrospective from birth ]
QI-disability [ Time Frame: retrospective over prior month ]
Parent priorities for care and counseling [ Time Frame: retrospective from birth ]
Parenting experience [ Time Frame: retrospective from birth ]
Information regarding child's death, if applicable [ Time Frame: retrospective from birth ]

Central Contacts and Locations

Central contacts

Natalia Klamut

‪(720) 277-9095‬malerettstudy@cuanschutz.edu

Locations

University of Colorado Anschutz Medical Campus

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Natalia Klamut

720-277-9095 malerettstudy@cuanschutz.edu

Principal Investigator:

Timothy Benke, MD, PhD

More Information

Sponsor

Children's Hospital Colorado

Last update posted

Apr 3, 2024

Last verified

Mar, 2024

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital Colorado on 2024-04-03.