Mothers Experiences With X-linked Retinoschisis Compared to Fathers Experiences

Mothers' Experiences With X-linked Retinoschisis Compared to Fathers' Experiences

Background:

X-linked retinoschisis (XLRS) is a genetic condition. It usually presents in boys in childhood with vision loss. Genetic conditions affect the people who have it and also their family members. Researchers want to learn if mothers and fathers react differently when a son gets XLRS. They also want to learn how personality impacts the way people react. This will help researchers find better ways to support families living with XLRS.

Objective:

To learn more about the experiences of mothers of sons with XLRS compared to fathers of sons with XLRS. Also to study personality differences between mothers and fathers.

Eligibility:

Parents of a biological son of any age with XLRS who is enrolled in protocol 03-EI-0033

Design:

Participants will be asked questions in person or by phone. This will last 30 90 minutes. They will be asked about their experience with XLRS and how it has impacted their family. The interview will be recorded.

Participants will complete a survey about personality traits. It will be anonymous. It can be completed by mail, email, or fax. It will take about 15 minutes.

Participants data may be shared with others, including those not at NIH, if they agree. Their data may be stored.

Sponsoring Institution: National Eye Institute

Study Overview

• Status: Completed
• Conditions: Retinoschisis; X-Linked

Detailed Description

OBJECTIVE: The objective of this study is to explore the experiences of mothers of sons with X-linked retinoschisis (XLRS) compared to fathers of sons with XLRS and to draft a personality profile of both mothers and fathers based on the findings.

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STUDY POPULATION: Up to 50 mothers of sons of all ages diagnosed with XLRS are eligible to participate in this study. Up to 50 fathers of sons of all ages with XLRS are also eligible to participate and will serve as a comparison group.

DESIGN: This is a pilot mixed-methods study that involves a cross sectional qualitative interview and a self-administered questionnaire. Participants will be recruited through a "parent" study "Clinical and Molecular Studies of X-linked Retinoschisis" (03-EI-0033). Interviews will be conducted either in person at the National Institutes of Health Clinical Center (NIH CC) or by telephone. The interview will explore the experiences and impact of having a son with XLRS. Interviews will be recorded, transcribed verbatim, coded by two independent coders, and analyzed thematically. Participants will also be asked to complete a questionnaire to assess personality traits, anxiety, and optimism, using scales shown to be valid and reliable in the general population and in clinical samples. Results from these scales will provide information about variables that cannot be reliably assessed from an interview. This study is not designed to assess causality; rather, it will be used to generate hypotheses and inform future social and behavioral and/or basic science research studies of parents of sons with XLRS.

OUTCOME MEASURES: The primary outcomes of this study include a description of the experiences of mothers of sons with XLRS compared to fathers of sons with XLRS and a preliminary personality profile of mothers and fathers.

• Study Type: Observational
• Enrollment (Actual): 12

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Up to 50 mothers of sons of all ages diagnosed with XLRS are eligible to participate in this study. Up to 50 fathers of sons of all ages with XLRS are also eligible to participate and will serve as a comparison group.

Description

• INCLUSION CRITERIA:

Participants may be eligible to take part in this study if they: Have a biological son of any age with XLRS who is enrolled in XLRS Clinical and Molecular Studies protocol (03-EI-0033).

EXCLUSION CRITERIA:

-Participants may not be able to take part in this study if they:

• Are unable to understand and comply with the procedures of this study.
• Cannot communicate in English orally and in writing.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patients; Up to 50 mothers of sons of all ages diagnosed with XLRS are eligible to participate in this study. Up to 50 fathers of sons of all ages with XLRS are also eligible to participate and will serve as a comparison group.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Description of the experiences of mothers of sons with XLRS compared to fathers of sons with XLRS	Study Completion

Collaborators and Investigators

• Sponsor: National Eye Institute (NEI)

Study record dates

Study Major Dates

• Study Start (ACTUAL): December 1, 2017
• Primary Completion (ACTUAL): October 30, 2019
• Study Completion (ACTUAL): October 30, 2019

Study Registration Dates

• First Submitted: November 25, 2017
• First Submitted That Met QC Criteria: November 25, 2017
• First Posted (ACTUAL): November 28, 2017

Study Record Updates

• Last Update Posted (ACTUAL): November 1, 2019
• Last Update Submitted That Met QC Criteria: October 31, 2019
• Last Verified: October 1, 2019

More Information

Terms related to this study

• Keywords: Carrier; XLRS; RS1
• Additional Relevant MeSH Terms: Eye Diseases; Retinal Degeneration; Retinal Diseases; Retinoschisis
• Other Study ID Numbers: 180016; 18-EI-0016