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Genetic treasure hunt: 3600 patients help decode disease genes

NCT ID NCT02266615

Knowledge-focused Sponsor: Maastricht University Medical Center 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 is building a biobank of genetic samples and medical information from 3600 patients visiting the Clinical Genetics department in Maastricht. Researchers will use the stored data to compare genes and discover unknown functions. The goal is to better understand how genetic changes cause disease, which could guide future diagnostics and treatments.

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 biobank could help scientists discover new links between genes and diseases, leading to better diagnosis or treatments in the future.
What could go wrong
This is an observational biobank study, not a treatment trial. It collects data for future research, so direct benefits to participants are unlikely and results may take years.

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 3,600 people

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

Start date

Sep 2014

Expected to finish

Jan 2035

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

New patients visiting the out patient clinic of the department of Clinical Genetics of the Maastricht University Medical Hospital and who get blood or tissue sampled for DNA diagnostics.

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: * New patients visiting the out patient clinic of the department of Clinical Genetics of the Maastricht University Medical Hospital * Withdrawal of body material for genetic diagnostics. Exclusion Criteria: * Patient does not understand the Dutch language.

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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 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

  • Maastricht University Medical Center

    RECRUITING

    Maastricht, Limburg, 6229 HV, Netherlands

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