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 | Recruiting FDA Device

• 1 other identifier: 23-39430
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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

Keywords

RNA to the RESCUE; RNA sequencing

Outcome Measures

Primary Outcomes (1)

• RNA analysis supports that the gene variant impacts gene expression

  RNA-Seq analysis shows that the gene variant of interest impacts the gene expression with either a decreased expression, increased expression, alternative splice product, or other.

  From analysis of RNA-Seq data to finalized summary of research results (up to 1 year)

Other Outcomes (1)

• Results add value to the diagnostic process

  From clinical geneticist receiving research results to share with participant to the completion of survey (up to 3 months)

Study Arms (2)

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

Device: RNA sequencing

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

Device: RNA sequencing

Interventions

RNA sequencing DEVICE

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

No genetic diagnosis; No symptomatology

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients seen by the division of Medical Genetics

You may qualify if:

• 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.

You may not qualify if:

• none

Sponsors & Collaborators

• University of California, San Francisco: lead

Study Sites (1)

University of California, San Francisco

San Francisco, California, 94159, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood, archival specimens, and extracted DNA

MeSH Terms

Conditions

Genetic Diseases, Inborn

Interventions

Sequence Analysis, RNA

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• Kanika Bhardwaj

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

• Reva Frankel

  University of California, San Francisco

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Janice Light

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 21, 2026
• First Posted: August 26, 2026
• Study Start: August 6, 2025
• Primary Completion (Estimated): June 1, 2027
• Study Completion (Estimated): December 1, 2030
• Last Updated: August 26, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)