Dyskeratosis CongenitaNCT04959188
Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)
An observational study of Dyskeratosis Congenita and Telomere Biology Disorders, run by National Cancer Institute (NCI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- Dyskeratosis Congenita, Telomere Biology Disorders
- How many people
- 53 participants
- Where
- 1 siteUnited States
- Study dates
- 9 Sep 2021to 5 Jul 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Individuals and families living with DC or a related TBD from relevant patient advocacy groups or referred by colleagues or professional groups.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Cancer Institute (NCI)
Bethesda, Maryland, 20892
About this study
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.
Read more
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.
Read the 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).
- Conditions
- Dyskeratosis Congenita, Telomere Biology Disorders
- Keywords
- Online Survey, Qualitative Interviews, germline variants, Bone Marrow Failure, Natural History
- Medical subject headings
- Dyskeratosis Congenita, Bone Marrow Failure Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Will be ongoing while the study is open
Secondary outcomes (1)
Needs assessment
Semi-structured interview guide; 60 to 90 minute telephone interviews to assess the needs of patients and their families and caregivers
Measured: Will be ongoing while the study is open
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jul 2021
- Study start9 Sep 2021
- Primary completion5 Jul 2023
- Study completion5 Jul 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Dyskeratosis CongenitaStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Ecologic or community
- Time perspective
- Cross-sectional
- Enrolment
- 53 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Sharon A Savage, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04959188
- Sponsor's protocol ID
- 10000502
- Other IDs
- 000502-C
- Status last verified
- 9 Dec 2024
- First submitted
- 10 Jul 2021
- Last updated
- 11 Dec 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 31478401Hamilton 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.
PubMed 25540896Hutson 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.
PubMed 23621292Pearce 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.
PubMed 39680438
Study at a glance
From the registry record, last updated by the sponsor on 11 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)
- ClinicalTrials.gov ID
- NCT04959188
- Acronym / sponsor ID
- 10000502
- Conditions
- Dyskeratosis Congenita, Telomere Biology Disorders
- Keywords
- Online Survey, Qualitative Interviews, germline variants, Bone Marrow Failure, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 53 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 9 Sep 2021 (actual)
- Primary completion
- 5 Jul 2023 (actual)
- Study completion
- 5 Jul 2023 (actual)
- First posted
- 13 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Ecologic or community
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Individuals and families living with DC or a related TBD from relevant patient advocacy groups or referred by colleagues or professional groups.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Needs assessment
Time frame: Will be ongoing while the study is open
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Dec 2024.
- Background: PubMed 31478401Niewisch 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.
- Background: PubMed 25540896Hamilton 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.
- Background: PubMed 23621292Hutson 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.
- Derived from this study: PubMed 39680438Pearce 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.
Related trials for Dyskeratosis Congenita
RecruitingObservational study
Cancer in Inherited Bone Marrow Failure Syndromes
Diamond Blackfan Anemia, Dyskeratosis Congenita
RecruitingObservational study
Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data
Inherited Bone Marrow Failure Syndrome, Fanconi Anemia
RecruitingPhase 1
Quercetin Dyskeratosis Congenita (DC)/Telomere Biology Disorders (TBD)
Dyskeratosis Congenita, Telomere Disease
RecruitingPhase 1
Nucleoside Therapy in Patients With Telomere Biology Disorders
Telomere Biology Disorders, Dyskeratosis Congenita
RecruitingObservational study
Familial Investigations of Childhood Cancer Predisposition
Acute Leukemia, Adenomatous Polyposis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sharon A Savage, M.D. principal investigator
National Cancer Institute (NCI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dyskeratosis Congenita and Telomere Biology Disorders, run by National Cancer Institute (NCI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 11 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Needs Assessment (time frame: Will be ongoing while the study is open). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04959188, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Dec 2024.