RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.

Part of paid clinical trials in San Francisco, California.

Sponsor
University of California, San Francisco
Study ID
NCT07787975
Status
Recruiting
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Conditions

  • Genetic Conditions
  • Genetic Disorders

Eligibility Criteria

Sex
ALL
Age
2 Years - N/A
Healthy Volunteers
Not accepted

Interventions

  • RNA sequencing — DEVICE
    Total RNA will be isolated from blood samples, processed, and analyzed to compare the RNA-Seq profile of each participant.

Study Details

The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone. Participants will be asked to share their medical history and prior genetic testing results, and to donate a blood sample for testing.

Key Dates

First listed
Aug 26, 2026
Start date
Aug 6, 2025
Status verified
Aug 2026
Primary completion
Jun 30, 2027
Completion
Dec 31, 2030

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: No genetic diagnosis
    Individuals who have previously undergone gene panel testing, WES or WGS with no diagnostic findings but with high suspicion for a genetic etiology
  • Arm: No symptomatology
    Individuals who have undergone genetic testing and who are found to have a truncating variant classified as pathogenic in a disease-causing gene but lack many/all symptoms typically associated with the disorder

Primary Outcome Measure

RNA analysis supports that the gene variant impacts gene expression [ Time Frame: From analysis of RNA-Seq data to finalized summary of research results (up to 1 year) ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of California, San FranciscoSan FranciscoCalifornia94159
Janice Light
[email protected]
415-502-6184
Kanika Bhardwaj (PRINCIPAL_INVESTIGATOR)
Reva Frankel (PRINCIPAL_INVESTIGATOR)

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