ClinicalTrials.gov record NCT07741747

Impact of Ultra-fast Genetic Diagnosis of Familial Lymphohistiocytosis on the Time to Bone Marrow Transplantation and Overall Survival

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Aug 22, 2026

Impact of Ultra-rapid Genetic Diagnosis of Primary Haemophagocytic Lymphohistiocytosis on the Time to Haematopoietic Stem Cell Transplantation

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
AgeUp to 18 years old
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This interventional diagnostic study tests an ultra‑rapid genetic test (third‑generation sequencing) in children with suspected or confirmed familial lymphohistiocytosis (FHL). About 200 children will be prospectively tested with a blood sample; results are expected in about 5 days instead of the typical 6–8 weeks. Data from roughly 40 retrospective cases will be used for comparison. Outcomes such as time to genetic result, time to treatment start, time to hematopoietic stem cell transplantation, survival, and hospital resource use are tracked up to 24 months.

What it is studying. Whether a national pathway using ultra‑rapid third‑generation sequencing for pediatric HLH/FHL is feasible, and how faster genetic diagnosis relates to clinical timelines (time to genetic result, start of specific immunomodulatory therapy, remission, and hematopoietic stem cell transplantation) and to outcomes including survival and hospital resource use up to 24 months.

What the researchers hope to learn. To demonstrate the feasibility of a national ultra‑rapid genetic diagnostic circuit for pediatric HLH revealing familial lymphohistiocytosis; to measure the impact of earlier genetic diagnosis on time to genetic result, time to initiation of specific immunomodulatory therapy, time to remission and to hematopoietic stem cell transplantation; and to quantify outcomes such as overall and progression‑free survival, hospital length of stay, ICU days, direct hospital and medical costs, and number of inappropriate or unnecessary treatments avoided.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Familial lymphohistiocytosis (FHL) is a group of rare genetic diseases (around fifteen cases per year in France). The defect in T lymphocyte cytotoxicity resulting from this disease is responsible for hemophagocytic lymphohistiocytosis (HLH). Promptly treatment of HLH is essential for prognosis. These diseases are fatal without a bone marrow transplant, with an overall 5-year survival rate of no more than 80% for FHL. The genetic or acquired nature of HLH is not easy to determine. An infectious trigger can be confounding when it occurs in an FHL. But above all, functional biological tests demonstrating a T lymphocyte cytotoxicity defects are difficult to interpret. Genetic diagnosis is therefore essential for confirming the primary nature of HLH, and for initiating targeted treatments (first stage: putting HLH into remission with chemotherapy or immunotherapy; second stage: bone marrow transplant). Genetic diagnosis of FHL is therefore a matter of emergency, and is currently based on targeted gene panel exploration (fragmentation sequencing) requiring 6 to 8 weeks. Recently, the development of third-generation sequencing (TGS) has revolutionized genomic medicine, enabling unitary sequencing in real time. As a result of this innovation, certain private molecular diagnostic specialties can now access this new emergency genomic medicine. Aim: the main aim of this study is to demonstrate the feasibility of a national circuit for ultra-rapid genetic diagnosis of pediatric HLH revealing familial lymphohistiocytosis. The secondary objective is to evaluate the impact of this early genetic diagnosis on the delay to remission of HLH and the delay to transplantation. Methods: This prospective, multicenter study measures the time required for genetic diagnosis of FHL in pediatric HLH, using innovative TGS sequencing technology. Perspectives: Fast genomic diagnosis of FHL will considerably shorten the time to confirm the diagnosis, to obtain HLH remission and, finally, to reach transplantation faster.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Third-generation sequencing

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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)):
  • Fever
  • Splenomegaly
  • Hypertriglyceridemia ≥ 3 mmol/l and/or hypofibrinogenemia≤ 1.5g/l
  • Hemophagocytosis found in a histological sample
  • Decreased or absent NK function (<10% of the laboratory normal)
  • Ferritin ≥ 500μg/l
  • Soluble CD25 ≥ 2,400U/ml or presence of activated T cells in phenotyping
  • 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

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

If you join the prospective group, a blood sample will be taken for third‑generation sequencing (an ultra‑rapid genetic test the record says should provide results in about 5 days) to look for genetic causes of FHL. The study team will record clinical timings and outcomes — for example when the genetic result is returned, when specific immunomodulatory therapy is started, any hematopoietic stem cell (bone marrow) transplantation, lengths of hospital and intensive‑care stays, and survival — with follow-up data collected up to 24 months after transplantation. A separate retrospective group will use past patient records for comparison and does not require new testing.

How the study is structured. Interventional (diagnostic) study with non-randomized, single-group allocation and no masking. A prospective group of about 200 children will have blood collected for third‑generation sequencing (the registry notes this testing should give results in about 5 days versus the standard 6–8 weeks). A retrospective comparison group of about 40 patients will have existing data compared against the prospective group. Key timing and outcomes are followed from enrollment through up to 24 months post transplantation (with survival checked at 6, 12, and 24 months).

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under Familial Lymphohistiocytosis; Lymphohistiocytosis. Does it apply to my diagnosis?
  • The registry says recruitment has not started. When is it expected to open, and can I register interest now?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on hemophagocytic lymphohistiocytosis

Clinical trials34 trials listed for hemophagocytic lymphohistiocytosisEvery trial the registry lists for hemophagocytic lymphohistiocytosis, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in hemophagocytic lymphohistiocytosis researchLatest monthly update: September 2026. Includes: Multiple test results. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
October 2026 (estimated)
Primary completion
October 2028 (estimated)
Study completion
October 2030 (estimated)
Target enrollment
240 participants (estimated)
Last updated on registry
Aug 3, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Assistance Publique Hopitaux De Marseille
Collaborators
  • Aix Marseille Université
  • Etablissement Français du Sang

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

bone marrow transplant
A procedure that replaces blood-forming cells after high-dose treatment. 'Autologous' uses the person's own cells collected beforehand; 'allogeneic' uses cells from a donor.
secondary objective
An additional result the study measures alongside the primary outcome, for example quality of life or a laboratory value.
legal guardian
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
informed consent form
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this website; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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