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

December 13, 2023 updated by: National Cancer Institute (NCI)

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.

Study Overview

Status

Completed

Conditions

Detailed Description

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).

Study Type

Observational

Enrollment (Actual)

53

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Cancer Institute (NCI)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals and families living with DC or a related TBD from relevant patient advocacy groups or referred by colleagues or professional groups.

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Bereaved family caregivers
Bereaved family caregivers (parents or spouses/partners) of individuals who died from complications associated with dyskeratosis congenita or a related telomere biology disorder.
Caregivers
Family and/or caregivers of individuals with dyskeratosis congenita or a related telomere biology disorder.
Patients
Individuals with dyskeratosis congenita or a related telomere biology disorder.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Needs Assessment
Time Frame: Will be ongoing while the study is open
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
Time Frame: Will be ongoing while the study is open
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Cancer Institute (NCI)

Investigators

  • Principal Investigator: Sharon A Savage, M.D., National Cancer Institute (NCI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 9, 2021

Primary Completion (Actual)

July 5, 2023

Study Completion (Actual)

July 5, 2023

Study Registration Dates

First Submitted

July 10, 2021

First Submitted That Met QC Criteria

July 10, 2021

First Posted (Actual)

July 13, 2021

Study Record Updates

Last Update Posted (Estimated)

December 14, 2023

Last Update Submitted That Met QC Criteria

December 13, 2023

Last Verified

December 12, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 10000502
  • 000502-C

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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