A 5-Day genetic test could slash time to transplant for children with rare immune disease
NCT ID NCT07741747
First seen Aug 03, 2026 · Last updated Aug 04, 2026 · Updated 1 time
Summary
This trial tests whether a new ultra-rapid genetic test, using third-generation sequencing, can diagnose familial lymphohistiocytosis (FHL) in children within 5 days instead of the usual 6-8 weeks. FHL is a rare, life-threatening genetic condition where the immune system attacks the body, and early diagnosis is critical for starting treatment and a bone marrow transplant. The study will measure how this faster diagnosis affects the time to transplant and overall outcomes in 240 children under 18 with suspected FHL.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Third-generation sequencing (a rapid genetic test on a blood sample)
- What this could lead to
- If successful, this could dramatically shorten the time to diagnosis and bone marrow transplant for children with familial lymphohistiocytosis, potentially improving survival.
- What could go wrong
- The trial is early and the test's speed may not translate into better outcomes. The technology must prove reliable in real-world settings, and results may not apply to all patients.
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
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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
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About 240 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Oct 2026
An estimate. Start dates often move.
- Expected to finish
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Oct 2030
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.
- Ages
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Up to 18 years
- 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: * Children under 18 years old * Confirmed or suspected diagnosis of FHL or a related genetic syndrome predisposing to HLH (e.g. Griscelli Syndrome, Chédiak-Higashi Syndrome, XLP1, XLP2) or a family history of lymphohistiocytic activation syndrome * Presence of at least 5 of the 8 following criteria (diagnostic criteria according to the definition of the "Histiocyte Society" (1)): 1. Fever 2. Splenomegaly 3. Hypertriglyceridemia ≥ 3 mmol/l and/or hypofibrinogenemia≤ 1.5g/l 4. Hemophagocytosis found in a histological sample 5. Decreased or absent NK function (\<10% of the laboratory normal) 6. Ferritin ≥ 500μg/l 7. Soluble CD25 ≥ 2,400U/ml or presence of activated T cells in phenotyping 8. Cytopenia (affecting at least two blood cell lines): Haemoglobin \< 9.0 g/dl, Platelets \<100 G/L, Neutrophils \<1,0 G/L * Patient benefiting from social security coverage * The legal guardian(s) who have signed the informed consent form Exclusion Criteria: * Age ≥ 18 years * Solid tumor, leukemia, lymphoma * Subjects covered by articles L1121-5 to 1121-8 of the public health code (patients under guardianship or curatorship, patient deprived of liberty, pregnant or breadtfeeding woman) * Persons who do not understand the French language * Patient in the exclusion period of another research protocol at the time of signing the consent form
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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 and phone numbers. 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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Assistance Publique - Hôpitaux de Marseille
Marseille, France
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