Gene First Approach to Connective Tissue Disease

Summary

Participation Requirements

Description

Study Description: This protocol will allow deep phenotyping of patients with underlying gene variation in a set of connective tissue genes to both quantify risk of specific disease features and to describe novel phenotypes attributable to gene variation. Study Objectives: Primary Objective: Phenoty...

Study Description: This protocol will allow deep phenotyping of patients with underlying gene variation in a set of connective tissue genes to both quantify risk of specific disease features and to describe novel phenotypes attributable to gene variation. Study Objectives: Primary Objective: Phenotypic description for patients with known variation in specified connective tissue genes. Secondary Objective: Within and across gene correlation of variant type with specific phenotype outcomes. Endpoints: Primary Endpoint: We will quantify the frequency of a set phenotypic observations for patients with variation in specified connective tissue genes. Organ systems under evaluation are those predicted to be affected based on gene expression or previous medical record investigations by our collaborators at Geisinger Health System. Secondary Endpoint: We will compare the frequency of specified phenotypes within genes in patients with specific genotypes and across connective tissue genes. Different variation type (stopgain vs missense) or location (in or out of a functional domain) has the potential to cause different phenotypic outcomes. Likewise, variation in genes impacting the same pathways may have overlapping phenotypes/outcomes. Study Population: We expect to enroll 120 subjects. The study will enroll children and adults with known variants in the genes of interest. No pregnant or lactating women may enroll. Vulnerable populations, including children and cognitively impaired persons, may participate in this study. Description of Sites/Facilities Enrolling Participants: Patients with relevant genotypes be referred to the NIH for deep phenotyping. Study Duration: The study will enroll for up to 60 months and will then require additional time for analysis. Participant Duration: Studies at the National Institutes of Health (NIH) include an approximately one week outpatient evaluation. No follow up visits are planned for this protocol. However, in the unusual circumstance that testing could not be completed at the time of the participant's visit (equipment failure or scheduling problem), the participant may return at a later date to complete desired testing. It is also possible that the participant may undergo a telehealth intake/history prior to visiting the Clinical Center (CC) to review history and aid in test selection/planning. If this happens, the total on-study duration may be longer than one week. We may re-contact the individual for follow up testing as part of a different protocol in the future.

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