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New RNA test could end diagnostic odyssey for rare disease patients

NCT ID NCT07075107

Knowledge-focused Sponsor: Assistance Publique Hopitaux De Marseille 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study tests whether analyzing RNA from blood and skin samples can find hidden genetic causes in people with rare diseases like intellectual disability. Researchers will compare results from both tissues to see which works best. The goal is to reduce the years of uncertainty many patients face without a diagnosis.

What this could mean

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

What this could lead to
If successful, this could provide a new way to diagnose rare genetic diseases faster, ending long searches for answers for many patients.
What could go wrong
This is a small, early-stage study (62 participants) focused on testing a method, not a treatment. It may not work for all patients or lead to immediate benefits.

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.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 62 people

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

Started

Mar 2026

Expected to finish

Apr 2029

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.

Ages

0 to 99 years

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: * Male or female, aged 0-99 years * Patient with neonatal intellectual disability and/or hypotonia followed at one of three inclusion centers * Patient or parent has been informed about the study and has signed an informed consent form * Genetic analysis by high-throughput DNA sequencing (gene panel, exome, genome) did not identify any abnormality explaining the patient's phenotype. * If the patient's phenotype is suggestive of Prader-Willi syndrome or Angelman syndrome: a methylation anomaly test on chromosome 15 was negative. * If the patient's phenotype is suggestive of fragile X syndrome: a repeat expansion analysis of the FMR1 gene was negative. * If the patient's phenotype is suggestive of myotonic dystrophy type I, DM1: a repeat expansion analysis of the DMPK gene was negative. * Patient entitled to or beneficiary of a social security scheme Exclusion Criteria: * Patient deprived of liberty * Pregnant or breast-feeding woman, * The person required to sign the consent form does not understand French * Person under guardianship and/or curatorship

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Conditions

The condition(s) this trial relates to.

hereditary disease intellectual disability Rare Diseases

As listed by the trial registrant

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

Rare genetic disease

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

  • Assistance publique - hôpitaux de Marseille

    RECRUITING

    Marseille, Provence-Alpes-Côt-d'Azue, 13354, France

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