Children and Adult Hemophagocytic Syndrome (HLHa)

NCT02113917 | Completed

• 2 other identifiers: NI10015AOM 10219
• Study Type: observational
• Target: 204
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hemophagocytic Syndrome

Keywords

infant, adolescent and adult Hemophagocytic Syndrome; Hemophagocytic lymphohistiocytosis

Outcome Measures

Primary Outcomes (10)

• biologicals criteria

  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)

  T0 (before traitment

• name of treatment

  administrated treatments

  T2 (T2 is the first day of treatment)

• Clinicals criteria

  clinicals description of patients : Fever, Splenomegaly and adenopathy

  T0

• biologicals criteria

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

  T1 (T1 is the first day of HLH syndrome)

• biologicals criteria

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

  T2 (T2 is the first day of treatment)

• biologicals criteria

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

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

• Clinicals criteria

  clinicals description of patients : Fever, Splenomegaly and adenopathy

  T1(T1 is the first day of HLH syndrome)

• Clinicals criteria

  clinicals description of patients : Fever, Splenomegaly and adenopathy

  T2 (T2 is the first day of treatment)

• Clinicals criteria

  clinicals description of patients : Fever, Splenomegaly and adenopathy

  T4 6 /12 months after the resolution of HLH)

• name of treatment

  administrated treatments

  T4(6/12 month after resolution of HLH)

Study Arms (1)

hemophagocytic syndrome

patient with hemophagocytic syndrome

Biological: Identification of biological markers

Interventions

Identification of biological markers BIOLOGICAL

hemophagocytic syndrome

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Infant, Adolescent and adult patients who have a HLH syndrome regardless of etiology, hospitalized in Internal Medicine, Critical Care, Hematology, Rheumatology Neurology or Organ Transplantation

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

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

Study Sites (1)

Clinical Research Unit

Paris, 75015, France

Location

Related Publications (1)

• Bloch C, Jais JP, Gil M, Boubaya M, Lepelletier Y, Bader-Meunier B, Mahlaoui N, Garcelon N, Lambotte O, Launay D, Larroche C, Lazaro E, Liffermann F, Lortholary O, Michel M, Michot JM, Morel P, Cheminant M, Suarez F, Terriou L, Urbanski G, Viallard JF, Alcais A, Fischer A, de Saint Basile G, Hermine O; French HLH Study Group. Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants. J Allergy Clin Immunol. 2024 Jan;153(1):256-264. doi: 10.1016/j.jaci.2023.07.023. Epub 2023 Sep 9.

  PMID: 37678575 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

whole blood and serum

MeSH Terms

Conditions

Lymphohistiocytosis, Hemophagocytic

Condition Hierarchy (Ancestors)

Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Olivier Hermine, MD, PhD

  Hopital Necker Enfants Malades, Assistance Publique des Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 24, 2013
• First Posted: April 15, 2014
• Study Start: January 1, 2010
• Primary Completion: January 1, 2016
• Study Completion: January 12, 2017
• Last Updated: November 20, 2025

Record last verified: 2025-09

Locations

FR (1)