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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.

NCT07787975 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-08-26

No results posted yet for this study

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

Interventions

DEVICE

RNA sequencing

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

Sponsors & Collaborators

Principal Investigators

  • Kanika Bhardwaj · University of California, San Francisco

  • Reva Frankel · University of California, San Francisco

Eligibility

Min Age
2 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-08-06
Primary Completion
2027-06-30
Completion
2030-12-31
FDA Device
Yes

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07787975 on ClinicalTrials.gov