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Scientists hunt for hidden genes behind rare childhood disease

NCT ID NCT02866162

Knowledge-focused Sponsor: Centre Hospitalier Universitaire Dijon Source: ClinicalTrials.gov ↗

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 27, 2026 · Last updated Jun 27, 2026

Summary

This study looked for new genes that cause a rare condition called syndromic congenital neutropenia, where children are born with low infection-fighting white blood cells and other developmental issues. Researchers used advanced gene sequencing on 25 participants to find the genetic roots. The goal was to better understand the disease, not to test a treatment.

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

25 people

The number who actually took part.

Start date

Sep 2013

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 with syndromic congenital neutropenia with development anomalies

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: * Persons who have provided written consent * Patients with congenital neutropenia and mental retardation and/or a development anomaly (malformation, facial dysmorphism) * Patients who accept a clinical evaluation, and to give at least one blood sample * Screening for chromosomal microrearrangements by normal array-CGH Exclusion Criteria: * Persons without national health insurance cover * Patients who do not meet the clinical and/or biological criteria * Refusal to give written consent to take part in the study * Refusal to give a blood sample * Blood samples from parents not available

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Conditions

The condition(s) this trial relates to.

constitutional neutropenia Kostmann syndrome

As listed by the trial registrant

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

Congenital neutropenia

Contacts and locations

Locations

  • CHU Dijon Bourgogne

    Dijon, 21079, France

More trials for these conditions

Other studies related to the condition(s) this trial covers.