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.

RNAseq for the Evaluation of Splicing and Cryptic or Unrecognized Effects

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07787975

Enrollment

100

Registered

2026-08-26

Start date

2025-08-06

Completion date

2030-12-01

Last updated

2026-08-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Genetic Conditions, Genetic Disorders

Keywords

RNA to the RESCUE, RNA sequencing

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.

Detailed description

Participant will come on site for a one-time blood draw. Study personnel will review prior medical history, family history, and prior genetic testing results gathered from the participant's medical record, along with analysis of RNA sequencing results derived from participant's blood sample. Results will be shared with participants through their clinical geneticist.

Interventions

DEVICERNA sequencing

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

Study design

Observational model

CASE_ONLY

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

2 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
RNA analysis supports that the gene variant impacts gene expression	From analysis of RNA-Seq data to finalized summary of research results (up to 1 year)	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.

Countries

United States

Contacts

CONTACTJanice Light

janice.light@ucsf.edu415-502-6184

PRINCIPAL_INVESTIGATORKanika Bhardwaj

University of California, San Francisco

PRINCIPAL_INVESTIGATORReva Frankel