Recruiting

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

Sponsor:

UCLA

Code:

NCT07787975

Conditions

Genetic Conditions

Genetic Disorders

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Interventions

RNA sequencing

Study Details

Brief summary:

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.

Conditions

Genetic Conditions

Genetic Disorders

Study ID

NCT07787975

Start date

Aug 6, 2025

Status verified date

Aug, 2026

Completion date

Dec, 2030

Anticipated

Primary completion date

Jun, 2027

Anticipated

Eligibility Criteria

Sex: All

Age: 2+

Healthy Volunteers: Not accepted

Inclusion Criteria:

individuals who have previously undergone gene panel testing, WES or WGS with no diagnostic findings but with high suspicion for a genetic etiology
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.

Exclusion Criteria:

none

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

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

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

Interventions

RNA sequencing

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

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 and Locations

Central contacts

Janice Light

415-502-6184 janice.light@ucsf.edu

Locations

University of California, San Francisco

Recruiting

San Francisco, California, United States, 94159

Contacts

Janice Light

415-502-6184 janice.light@ucsf.edu

Principal Investigator:

Kanika Bhardwaj

More Information

Sponsor

University of California, San Francisco

Last update posted

Aug 26, 2026

Last verified

Aug, 2026

Keywords

RNA to the RESCUE
RNA sequencing

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of California, San Francisco on 2026-08-26.