The Diagnostic Experience of Male Rett Syndrome

Recruiting

• Conditions: Rett Syndrome; RTT

• Registration Number: NCT06346106
• Lead Sponsor: Children's Hospital Colorado

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-05-24
• Study First Submitted: 2024-02-07
• Status Verified: 2024-03
• Study First Submitted QC: 2024-03-28
• Last Update Submitted: 2024-03-28
• Study First Posted: 2024-04-03
• Last Update Posted: 2024-04-03
• Primary Completion: 2024-04-30
• Study Completion: 2024-04-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Male
• Target Recruitment: 80

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Parenting experience	retrospective from birth	Remote survey the asks parents to rate with a rating scale their parenting experience
Diagnostic experiences	retrospective from birth	Qualitative interview
QI-disability	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
Information regarding child's death, if applicable	retrospective from birth	Questionnaire that asks parents about the details of their child's death, if applicable
Attainment of developmental milestones and any regressions	retrospective from birth	Remote survey of developmental milestones, reported in months
Parent priorities for care and counseling	retrospective from birth	Remote survey the asks parents to prioritize with a rating scale their priorities for patient care

Secondary Outcome Measures

Name	Time	Method
Family demographics	retrospective, over last 12 months	Questionnaire
Systems of supports	retrospective, over last 12 months	Questionnaire
Healthcare preferences	retrospective, over last 12 months	Questionnaire

Trial Locations

Locations (1)

University of Colorado Anschutz Medical Campus; 🇺🇸 Aurora, Colorado, United States