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

NCT04959188 | Completed

• 2 other identifiers: 10000502000502-C
• Study Type: observational
• Target: 53
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Online Survey; Qualitative Interviews; germline variants; Bone Marrow Failure; Natural History

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Needs assessment

  Will be ongoing while the study is open

Study Arms (3)

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.

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Cancer Institute (NCI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 31478401 BACKGROUND

• 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.

  PMID: 25540896 BACKGROUND

• 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.

  PMID: 23621292 BACKGROUND

MeSH Terms

Conditions

Dyskeratosis Congenita; Bone Marrow Failure Disorders

Condition Hierarchy (Ancestors)

Congenital Bone Marrow Failure Syndromes; Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Sharon A Savage, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 10, 2021
• First Posted: July 13, 2021
• Study Start: September 9, 2021
• Primary Completion: July 5, 2023
• Study Completion: July 5, 2023
• Last Updated: December 11, 2024

Record last verified: 2024-12-09

Locations

US (1)