Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

Study Overview
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Brief Summary
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Background: DC and related TBDs are a group of illnesses caused by variants in genes that regulate telomeres. These illnesses can cause problems with the skin and mucous membranes. They can also cause ophthalmic, dental, immunologic, and other abnormalities. Researchers want to learn more about these illnesses and the people who have them. Objective: To learn about the informational, pragmatic, and psychosocial challenges and unmet needs of individuals and families affected by DC and related TBDs. Eligibility: People aged 18 years and older who have DC or related TBD or who are, or have been, a caregiver to someone with DC or related TBD. Design: This study has 2 parts: a survey and a telephone interview. Participants may choose to take part in one or both parts. Participants may complete an online survey. They will select which group most applies to them: person with DC/TBD; parent/caregiver to a person with DC/TBD; or bereaved parent/caregiver of a person who had DC/TBD. The survey will be based on the group they choose. They will answer 20-30 questions. The survey will take 10-20 minutes to complete. Participants may take part in a phone interview. It will take 50-70 minutes to complete. They will give their name, email address, and phone number to schedule the interview. The interview will be audio recorded and transcribed. Personal identifiers will be removed.

Detailed Description
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Study Description: This study is exploratory and aims to conduct a needs assessment for individuals and families living with DC and related TBDs. The study has two parts. For the first part of the study, participants will complete an online survey. The second part of the study involves participating in an interview via telephone. Interviews will address important questions in greater depth. Individuals have the option to participate in one or both parts of the study. Objective: Using online survey methodology and qualitative interviews, the purpose of this concurrent mixed methods study is to conduct a needs assessment about the informational, pragmatic, and psychosocial challenges and unmet needs of individuals and families affected by DC and related TBDs. Endpoint: This is an exploratory study; therefore, we are not generating a priori hypotheses. Statistical analysis will be limited to calculating descriptive statistics (frequencies, percentages, chi-square statistics) and statistical analyses that do not require a large number of observations (Pearson's r, ANOVA).

Official Title
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Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)

Conditions
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Dyskeratosis Congenita, Telomere Biology Disorders

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet the following criteria: Ability for the participant to speak, read, and/or write in English to understand and sign the informed consent and complete the online survey, interview, or both. Participants must have a diagnosis of DC or related TBD or be, or have been, a caregiver to an individual with a diagnosis of DC or related TBD. Participants must be 18 years of age or older. Participants must have Internet access to participate in the online survey and a telephone to participate in the interview. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: -Individuals who do not meet eligibility criteria listed above. No other exclusionary criteria apply.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Bereaved family caregivers<br>Bereaved family caregivers (parents or spouses/partners) of individuals who died from complications associated with dyskeratosis congenita or a related telomere biology disorder. | |
| Caregivers<br>Family and/or caregivers of individuals with dyskeratosis congenita or a related telomere biology disorder. | |
| Patients<br>Individuals with dyskeratosis congenita or a related telomere biology disorder. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Needs Assessment | Brief online survey consisting of questions that have been modified from the Needs Assessment of Family Caregivers-Cancer (NAFC-C) which has been validated in caregiver and bereaved populations. | Will be ongoing while the study is open | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Needs assessment | Semi-structured interview guide; 60 to 90 minute telephone interviews to assess the needs of patients and their families and caregivers | Will be ongoing while the study is open | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Online Survey, Qualitative Interviews, germline variants, Bone Marrow Failure, Natural History