Skip to main content
OpenTrials
Recruiting

NCT Number: NCT07787975

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.

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Genetic Conditions Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Disorders

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California, San Francisco

San Francisco, California, 94159, United States

Location status: Recruiting

Location contact

Janice Light

CONTACT

[email protected]

415-502-6184

Kanika Bhardwaj

PRINCIPAL_INVESTIGATOR

Reva Frankel

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

RNA sequencing

Device

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

Primary outcomes

  1. 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)

    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.

Other outcomes

  1. Results add value to the diagnostic process

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

    Clinical geneticist will complete a survey to indicate if they found that the research results added value to the diagnostic process.

Study contacts

Contact information is provided by the study sponsor or research team.

Janice Light

CONTACT

[email protected]

415-502-6184

Sponsors and collaborators

Lead sponsor

University of California, San Francisco

Other

Registry information

Official study title

RNAseq for the Evaluation of Splicing and Cryptic or Unrecognized Effects

Important dates

Study start
2025
Primary completion
2027
Study completion
2030
First posted
Aug 26, 2026
Registry last updated
Aug 26, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.