Needs Assessment for Individuals and Families Affected by Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders (TBD)
Condition: Dyskeratosis Congenita; Telomere Biology Disorders
MeSH terms: Dyskeratosis Congenita
Study type: Observational

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.
    

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).
    

Observational model: Ecologic or Community
Time perspective: Cross-Sectional
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.
      
Keywords: Online Survey; Qualitative Interviews; germline variants; Bone Marrow Failure; Natural History