NCT04959188|Completed
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Sponsor study identifier
Secondary identifiers
observational
53
1 country
1
Study Start
September 9, 2021
Actual (reported)Primary Completion
July 5, 2023
Actual (reported)Study Completion
July 5, 2023
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
July 5, 2023
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
July 10, 2021
Actual (reported)July 13, 2021
Actual (reported)September 9, 2021
Actual (reported)July 5, 2023
Actual (reported)July 5, 2023
Actual (reported)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
Needs assessment
Will be ongoing while the study is open
Bereaved family caregivers (parents or spouses/partners) of individuals who died from complications associated with dyskeratosis congenita or a related telomere biology disorder.
Family and/or caregivers of individuals with dyskeratosis congenita or a related telomere biology disorder.
Individuals with dyskeratosis congenita or a related telomere biology disorder.
Individuals and families living with DC or a related TBD from relevant patient advocacy groups or referred by colleagues or professional groups.
National Cancer Institute (NCI)
Bethesda, Maryland, 20892, United States
Niewisch MR, Savage SA. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2019 Dec;12(12):1037-1052. doi: 10.1080/17474086.2019.1662720. Epub 2019 Sep 10.
Hamilton JG, Hutson SP, Frohnmayer AE, Han PK, Peters JA, Carr AG, Alter BP. Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes. J Genet Couns. 2015 Oct;24(5):760-70. doi: 10.1007/s10897-014-9807-3. Epub 2014 Dec 27.
Sharon A Savage, M.D.
National Cancer Institute (NCI)
53 participants (actual enrollment reported by the registry).
First Submitted
July 10, 2021
First Posted
July 13, 2021
Study Start
September 9, 2021
Actual (reported)Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA
Contact the study team to confirm eligibility.
Hutson SP, Han PK, Hamilton JG, Rife SC, Al-Rahawan MM, Moser RP, Duty SP, Anand S, Alter BP. The use of haematopoietic stem cell transplantation in Fanconi anaemia patients: a survey of decision making among families in the US and Canada. Health Expect. 2015 Oct;18(5):929-41. doi: 10.1111/hex.12066. Epub 2013 Apr 29.
Pearce EE, Majid A, Brown T, Shepherd RF, Rising C, Wilsnack C, Thompson AS, Gilkey MB, Ribisl KM, Lazard AJ, Han PK, Werner-Lin A, Hutson SP, Savage SA. "Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis. JMIR Form Res. 2024 Dec 16;8:e64343. doi: 10.2196/64343.
Primary Completion
July 5, 2023
Actual (reported)Study Completion
July 5, 2023
Actual (reported)Last Updated
December 11, 2024
Record last verified: 2024-12-09
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Source: ClinicalTrials.gov.
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