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

NCT04959188 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 53

Last updated 2024-12-11

No results posted yet for this study

Summary

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.

Conditions

  • Dyskeratosis Congenita
  • Telomere Biology Disorders

Sponsors & Collaborators

  • National Cancer Institute (NCI)

    lead NIH

Principal Investigators

  • Sharon A Savage, M.D. · National Cancer Institute (NCI)

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-09-09
Primary Completion
2023-07-05
Completion
2023-07-05

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04959188 on ClinicalTrials.gov