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Biobank aims to unlock genetic secrets of rare diseases

NCT ID NCT05499091

Knowledge-focused Sponsor: University Hospital, Angers 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 29, 2026 · Last updated Jun 30, 2026 · Updated 1 time

Summary

This study collects blood, urine, and skin samples from people with rare genetic diseases whose genetic cause is not yet known. The goal is to build a biobank that researchers can use to confirm whether certain gene variants are responsible for these diseases. By identifying new disease-causing genes, the study hopes to improve diagnosis and understanding of rare conditions.

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 help diagnose more rare diseases and point toward potential treatments for these conditions.
What could go wrong
This is an observational study that builds a biobank for future research. It does not test any treatment directly, so benefits for participants are not immediate.

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 1,200 people

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

Started

Oct 2022

Expected to finish

Oct 2045

An estimate. End dates often move.

Lead sponsor

A government agency

The lead sponsor is a government body.

Who can take part

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

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: Patient : * Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood. * Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases. * Patient Affiliated to the French social security system. * Patient consent form or legal representative consent form obtained. Patient's parent : * Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood. * Parent included in the BaMaRa database. * Parent affiliated to the French social security system. * Parent consent form obtained for himself/herself. Patient's brother or sister : * Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood. * Brother or sister included in the BaMaRa database. * Brother or sister affiliated to the French social security system. * Brother or sister consent form obtained for themselves or from their legal representative. Exclusion Criteria: * Poor understanding of the French language * Legal of administrative liberty deprivation * Psychiatric force care

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Conditions

The condition(s) this trial relates to.

hereditary disease Rare Diseases

As listed by the trial registrant

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

Genetic disease 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

  • Centre Hospitalo-Universitaire d'Angers

    RECRUITING

    Angers, 49933, France

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