Needs Assessment for Individuals & Families Affected by Dyskeratosis

Status Completed

Clinical 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. 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.

Clinical Trial 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

Related Conditions & MeSH terms

Dyskeratosis Congenita

Clinical Trial Details

NCT number	NCT04959188
Study type	Observational
Source	National Institutes of Health Clinical Center (CC)
Contact
Status	Completed
Phase
Start date	September 9, 2021
Completion date	July 5, 2023

View Details

See also
Status	Clinical Trial	Phase
Recruiting	`NCT04638517` - The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis	Phase 2
Recruiting	`NCT00027274` - Cancer in Inherited Bone Marrow Failure Syndromes
Terminated	`NCT01001598` - Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita	Phase 1/Phase 2
Recruiting	`NCT02720679` - Investigation of the Genetics of Hematologic Diseases
Active, not recruiting	`NCT01659606` - Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita	Phase 2
Recruiting	`NCT05436431` - Clinical Care Consortium of Telomere-Associated Ailments (CCCTAA) Database
Completed	`NCT00499070` - Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment	N/A
Recruiting	`NCT02162420` - Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia	N/A
Completed	`NCT00004787` - Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes	Phase 2
Completed	`NCT00455312` - Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA	Phase 2/Phase 3
Recruiting	`NCT03050268` - Familial Investigations of Childhood Cancer Predisposition

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

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

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms