Major study launches to unravel rare genetic diseases affecting immunity and the brain
NCT ID NCT06235580
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study aims to learn more about rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy volunteers. The goal is to better understand the symptoms, natural history, and genetic causes of these conditions, which currently have no effective cure.
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
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About 1,000 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Dec 2015
- Expected to finish
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Dec 2035
An estimate. End dates often move.
- Lead sponsor
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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 will be included by any hospital department involved in the management of these pathologies in France.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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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 Hide 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 * Patients : * Have / present a family history of genetic disease with immune and neurological dysfunction. * Have signed an informed consent form. * Unaffected related subjects : * Be related to a patient included in this research. * Have signed an informed consent form. * Control patients * Be free of any genetic disease with immune and neurological dysfunction. * Have undergone surgery as part of their management * Have signed an informed consent form. Non-inclusion criteria ✓ Be deprived of liberty
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names. We don't republish those.
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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
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Necker enfants malades Hospital
RECRUITINGParis, Île-de-France Region, 75015, France
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