The Diagnostic Experience of Male Rett Syndrome

NCT06346106 | Recruiting

• 1 other identifier: 23-0075
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (6)

• Diagnostic experiences

  Qualitative interview

  retrospective from birth

• Attainment of developmental milestones and any regressions

  Remote survey of developmental milestones, reported in months

  retrospective from birth

• QI-disability

  "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

  Remote survey the asks parents to prioritize with a rating scale their priorities for patient care

  retrospective from birth

• Parenting experience

  Remote survey the asks parents to rate with a rating scale their parenting experience

  retrospective from birth

• Information regarding child's death, if applicable

  Questionnaire that asks parents about the details of their child's death, if applicable

  retrospective from birth

Secondary Outcomes (3)

• Family demographics

  retrospective, over last 12 months

• Systems of supports

  retrospective, over last 12 months

• Healthcare preferences

  retrospective, over last 12 months

Interventions

Male Rett GENETIC

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

Eligibility Criteria

• Age: 0 Years - 100 Years
• Sex: male
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Parents/caregivers to boys with Rett syndrome

You may qualify if:

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

You may not qualify if:

• parents of male MECP2 duplication syndrome

Sponsors & Collaborators

• Children's Hospital Colorado: lead
• University of Colorado, Denver: collaborator
• Vanderbilt University School of Medicine: collaborator
• University of Alabama at Birmingham: collaborator
• University of Pennsylvania: collaborator
• International Rett Syndrome Foundation: collaborator
• Rocky Mountain Rett Association: collaborator

Study Sites (1)

University of Colorado Anschutz Medical Campus

Aurora, Colorado, 80045, United States

RECRUITING

MeSH Terms

Conditions

Rett Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Study Officials

• Timothy Benke, MD, PhD

  University of Colorado, Denver

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Natalia Klamut

CONTACT

‪(720) 277-9095‬; malerettstudy@cuanschutz.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: February 7, 2024
• First Posted: April 3, 2024
• Study Start: May 24, 2023
• Primary Completion: April 30, 2024
• Study Completion: April 30, 2024
• Last Updated: April 3, 2024

Record last verified: 2024-03

Locations

US (1)