Eligibility Module
The Eligibility Module contains detailed information about who can participate in the clinical trial. This includes eligibility criteria, age restrictions, gender requirements, healthy volunteer status, and study population descriptions, helping researchers understand who is eligible to participate in the study.
Eligibility Module path is as follows:
Study -> Protocol Section -> Eligibility Module
Eligibility Module
Ignite Creation Date:
2025-12-24 @ 9:10 PM
Ignite Modification Date:
2025-12-24 @ 9:10 PM
NCT ID:
NCT03605004
Eligibility Criteria:
* INCLUSION CRITERIA:
* Had endured a diagnostic odyssey of at least 6 months before receiving exome sequencing. A diagnostic odyssey may be defined as:
* Having a set of clinical symptoms but no diagnosis OR
* Having a clinical diagnosis of a broad category of disease (i.e. ataxia, muscular dystrophy) but no specific diagnosis OR
* Having a clinical diagnosis composed of psychosomatic and/or descriptive diagnoses that individually define single symptoms or groups of symptoms (i.e. migraines, IBS, joint pain), but that do not explain the entire phenotype
* and Had exome sequencing in an attempt to attain diagnosis
* and Received post-test counseling for exome sequencing by a genetic counselor
* and Received a clinically uncertain result from exome sequencing. For the purposes of this study, a clinically uncertain result is defined as one of the following options:
* One or more VUSs
* A negative test result (no reported variants)
* and Result disclosure for exome sequencing occurred anywhere from 1 week to 7 years prior to being interviewed
EXCLUSION CRITERIA:
* Exome sequencing results provided a genetic diagnosis for the patient that does not fall into one of the above inclusion categories
* Patient was under age 18 at time of clinically uncertain result disclosure
* Patient has a cognitive disability that prevents him/her from comprehensibly answering interview questions
* Patient cannot speak or understand English
Patients who have since received a genetic diagnosis (from some other mechanism besides their exome sequencing test) may still participate in the study if they are able to recount their experiences around receiving this sort of exome sequencing result during the time they were undiagnosed.
Healthy Volunteers:
False
Sex:
ALL
Minimum Age:
18 Years
Maximum Age:
100 Years
Study:
NCT03605004
Study Brief:
Protocol Section:
NCT03605004