The Diagnostic Experience of Male Rett Syndrome

Rett Syndrome Clinical Trial

Official title:

The Diagnostic Experience of Male Rett Syndrome

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06346106
• Other study ID #: 23-0075
• Status: Recruiting
• Start date: May 24, 2023
• Est. completion date: April 30, 2024

Study information

• Verified date: March 2024
• Source: Children's Hospital Colorado
• Contact: Natalia Klamut
• Phone: ?(720) 277-9095?
• Email: malerettstudy[@]cuanschutz.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 80
• Est. completion date: April 30, 2024
• Est. primary completion date: April 30, 2024
• Gender: Male
• Age group: 0 Years to 100 Years

Eligibility

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

Related Conditions & MeSH terms

• Rett Syndrome
• RTT
• Syndrome

Intervention

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

Locations

Country	Name	City	State
United States	University of Colorado Anschutz Medical Campus	Aurora	Colorado

Sponsors (7)

Lead Sponsor	Collaborator
Children's Hospital Colorado	International Rett Syndrome Foundation, Rocky Mountain Rett Association, University of Alabama at Birmingham, University of Colorado, Denver, University of Pennsylvania, Vanderbilt University School of Medicine

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Diagnostic experiences	Qualitative interview	retrospective from birth
Primary	Attainment of developmental milestones and any regressions	Remote survey of developmental milestones, reported in months	retrospective from birth
Primary	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
Primary	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
Primary	Parenting experience	Remote survey the asks parents to rate with a rating scale their parenting experience	retrospective from birth
Primary	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	Family demographics	Questionnaire	retrospective, over last 12 months
Secondary	Systems of supports	Questionnaire	retrospective, over last 12 months
Secondary	Healthcare preferences	Questionnaire	retrospective, over last 12 months