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Reading RNA: a new clue to solve genetic mysteries?

NCT ID NCT07787975

Knowledge-focused Sponsor: University of California, San Francisco Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Aug 26, 2026 · Last updated Aug 27, 2026 · Updated 1 time

Summary

This study explores whether analyzing RNA—the molecule that carries instructions from genes—can improve genetic testing. Researchers will compare RNA sequencing results with standard gene tests in 100 people who have suspected genetic conditions but no clear diagnosis. Participants provide a blood sample and share their medical history. The goal is to see if RNA analysis can reveal how gene variants affect expression, potentially leading to more accurate diagnoses.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
RNA sequencing
What this could lead to
If RNA sequencing proves useful, it could help more people with suspected genetic conditions get a clear diagnosis when standard gene tests come back negative.
What could go wrong
This is an observational study, not a treatment trial, so it won't directly change health. RNA testing may not always reveal the effect of a gene variant, and results may not apply to everyone.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 100 people

The number the study aims to enrol. It can still change while the study runs.

Started

Aug 2025

Expected to finish

Dec 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients seen by the division of Medical Genetics

Ages

2 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

hereditary disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Genetic conditions Genetic disorders

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • University of California, San Francisco

    RECRUITING

    San Francisco, California, 94159, United States

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