Skip to main content
OpenTrials
Completed

NCT Number: NCT02113917

Children and Adult Hemophagocytic Syndrome (HLHa)

Different study of HLHa patients :

* Diagnosis criteria, because criteria are based on pediatric genetic studies. * Physiopathological studies: genetic studies have demonstrated the role of CD8+ cells, in particular because they have a genetic defect affecting their cytotoxic functions in HLH pediatric. the aim is to establish if the same defect is found in both some or in all of HLHa patients. If this is the case, to then establish whether hypomorphic genetic mutations are responsible.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Hemophagocytic Syndrome Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Lymphatic Diseases Lymphohistiocytosis, Hemophagocytic

Age range

2 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Clinical Research Unit

Paris, 75015, France

About this study

Formation of a prospective and retrospective infant, adolescent and adult HLH patients cohort.

Collection of clinical and biological, therapeutics, informations, in a register, The collection of information is:

  • To identify clinical and biological criteria specific to HLHa
  • Classify patients into homogeneous groups, based on clinical biological scalability in particular, with regards to their response to treatment
  • Identify and analyze the behavioral therapy Creation of a bank of biological samples for use in the study of the pathophysiology of HLHa.

Background:

The hemophagocytic syndrome in infant, adolescent and adults (HLH) is a serious and often lethal condition. The study of literature series HLHa shows that these syndromes frequently develop in immunocompromised patients (renal transplant, HIV, collagen in Processing immunosuppressants) in the course of a viral infection. HLH syndrome has also been described as a clinical form of lymphoma or connective disease (lupus). These clinical forms are rare, severe and recurrent suggesting the possibility that immune deficiency could be involved. The study of pediatric forms has definitely established a link between HLH syndrome and the presence of immune deficiency by identifying the nature of the latter. Four genetically determined diseases are manifested by HLH syndrome. These conditions are Family lymphohistiocytosis (LHF) syndrome, Chediak-Higashi CHS syndrome, Griscelli (GS) type 2 syndromes and X-linked lymphoproliferative (XLP 1 and 2). The mutated genes are respectively perforin Unc 13.4 and syntaxin in the LHF2, 3, 4 (10q locus genetic for LHF 1), CHS1/LYST (Lysosomal Trafficking regulator) in the CHS, in the Rab27a GS type 2, and XIAP and SH2D1A in the XLP. It is now well established that proteins encoded by these genes are necessary for the cytotoxic function of CD8 + and in the absence of these proteins is the cytotoxocity CD8 + deficient. Also, closed clinical and biological characteristics shared by pediatric genetic and adult forms suggest the existence of immune defects responsible for some or all HLH adult patients.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Major criteria:

  • hemophagocytosis found in a specimen histology.
  • Fever
  • Splenomegaly

Minor criteria:

  • adenopathy
  • cytopenia> 2 cell lines Hemoglobin <9 g / dl (less than 4 weeks and> 12 g / dl) Platelets <100 000 x 10 / l Neutrophils <1 10 / l
  • hypertriglyceridaemia and / or hypofibrinogenaemia Elevated triglycerides> 3 mmol / l Fibrinogen <1.5 g / l
  • Ferritin> 500 microg / L

These criteria will be those used for the diagnosis of HLH in adults:

One major criterion and two minor (including hyper ferritin or hypertriglyceridemia) 3 minor criteria (including hyper ferritin or hypertriglyceridemia)

Exclusion criteria

  • Pregnant women
  • A person under guardianship
  • Patients under the age of 2 years

Treatment and study plan

Identification of biological markers

Biological

Primary outcomes

  1. biologicals criteria

    Time frame: T0 (before traitment

    measure of : cytokines expression (mmol/L) Hemoglobin (g/dl) number of Platelets (number/L) number of Neutrophils (number/L) number of triglycerides (mmol/L) number of fibrinogen (g/L) number of Ferritin (microg/L)

  2. name of treatment

    Time frame: T2 (T2 is the first day of treatment)

    administrated treatments

  3. Clinicals criteria

    Time frame: T0

    clinicals description of patients : Fever, Splenomegaly and adenopathy

  4. biologicals criteria

    Time frame: T1 (T1 is the first day of HLH syndrome)

    measure of : cytokines expression Hemoglobin level number of Platelets number of Neutrophils number of triglycerides> number of fibrinogen number of Ferritin

  5. biologicals criteria

    Time frame: T2 (T2 is the first day of treatment)

    measure of : cytokines expression Hemoglobin level number of Platelets number of Neutrophils number of triglycerides> number of fibrinogen number of Ferritin

  6. biologicals criteria

    Time frame: T4 (6 /12 months after the resolution of HLH)

    measure of : cytokines expression Hemoglobin level number of Platelets number of Neutrophils number of triglycerides> number of fibrinogen number of Ferritin

  7. Clinicals criteria

    Time frame: T1(T1 is the first day of HLH syndrome)

    clinicals description of patients : Fever, Splenomegaly and adenopathy

  8. Clinicals criteria

    Time frame: T2 (T2 is the first day of treatment)

    clinicals description of patients : Fever, Splenomegaly and adenopathy

  9. Clinicals criteria

    Time frame: T4 6 /12 months after the resolution of HLH)

    clinicals description of patients : Fever, Splenomegaly and adenopathy

  10. name of treatment

    Time frame: T4(6/12 month after resolution of HLH)

    administrated treatments

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • Laboratory of normal and pathological development Immune System - IFR 94 U768
  • Reference Centre for Hereditary Immunodeficiency: CEREDIH
  • URC-CIC Paris Descartes Necker Cochin

Registry information

Official study title

The Formation of a Cohort of HLHa Patients in Order to Study Their Physiopathological Characteristics

Acronym: HLH-genes

Important dates

Study start
2010
Primary completion
2016
Study completion
2017
First posted
Apr 15, 2014
Registry last updated
Nov 20, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.