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Scientists hunt for genetic clues in rare immune disease

NCT ID NCT03427593

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study looked at 27 adults with a severe form of primary immunodeficiency, which causes frequent infections, enlarged lymph nodes, and low white blood cells. Researchers analyzed their DNA to find known and new genetic mutations linked to the condition. The goal was to better understand the biological pathways involved, which could help improve diagnosis and guide future research.

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 research could identify new genes involved in severe immune disorders, pointing toward better diagnosis or future treatments.
What could go wrong
This is a small, observational study (27 people) that looks at genetics, not a treatment trial. It may not find new mutations or lead directly to therapies.

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

27 people

The number who actually took part.

Started

Mar 2018

Finished

Dec 2019

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

18 years and older

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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 : * \>18 years old * CVID (Common Variable Immunodeficiency) * Neutropenia * Lymphoproliferation Exclusion Criteria : \- Secondary immunodeficiency

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Conditions

The condition(s) this trial relates to.

autoimmune disease common variable immunodeficiency neutropenia Primary Immunodeficiency Diseases

As listed by the trial registrant

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

Primary immune-deficiency (PID) common variable immune deficiency (CVID)

Contacts and locations

Locations

  • Service d'Immunologie Clinique et VIH - Hôpital Civil

    Strasbourg, 67091, France