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New DNA reader could crack unsolved rare disease cases

NCT ID NCT07400913

Knowledge-focused Sponsor: University Hospital, Bordeaux Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 a new DNA sequencing method that reads long stretches of DNA to find hidden genetic changes causing rare diseases like albinism and intellectual disability. Researchers will analyze stored blood or DNA from 150 patients who haven't gotten a clear diagnosis yet. The goal is to see if this approach can detect methylation abnormalities (epimutations) that standard tests miss, potentially reducing diagnostic dead ends.

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 150 people

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

Expected to start

Feb 2026

An estimate. Start dates often move.

Expected to finish

Feb 2028

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 for whom extracted DNA or a tube of frozen blood is available in the molecular genetics laboratory and for which genetic analysis were unconclusive.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

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: * Adult patients,adults under guardianship, or minors with autorisation from their legal representative, for whom extracted DNA or a tube of frozen blood is available in the molecular genetics laboratory. * Patients investigated for either : * a syndromic intellectual development disorder (IDD) defined by: * age : * Between 0 and 5 years with strict criteria: severe developmental delay in terms of motor skills, language and/or sociability OR * ≥ 6 years: patients with IDD, regardless of severity (but with IDD proven by ad hoc neuropsychological tests) * association with minor morphological criteria and/or organ malformations. * albinism defined by the presence of two of the following clinical signs: foveal hypoplasia, retinal hypopigmentation, iris transillumination, crossed asymmetry, nystagmus, skin/hair hypopigmentation (suggested diagnostic criteria proposed by Kruitj et al. (PMID: 30098354)). * Patients for whom genetic analyses (panel, exome, genome) are either : * inconclusive (no pathogenic or probably pathogenic variant). * A single heterozygous pathogenic or probably pathogenic variant identified in a gene associated with an autosomal recessive disease compatible with the phenotype. Exclusion Criteria: * Refusal to participate in research protocols expressed at the time of written consent for genetic analysis as part of medical care. * Opposition expressed following receipt of information note.

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Conditions

The condition(s) this trial relates to.

albinism intellectual disability Rare Diseases syndromic intellectual disability

As listed by the trial registrant

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

Albinism Intellectual disability Rare diseases

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

  • CHU Bordeaux - Hôpital Pellegrin

    Bordeaux, 33076, France

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