Clinical Trial Details
— Status: Completed
Administrative data
NCT number |
NCT02113917 |
Other study ID # |
NI10015 |
Secondary ID |
AOM 10219 |
Status |
Completed |
Phase |
|
First received |
|
Last updated |
|
Start date |
January 2010 |
Est. completion date |
January 12, 2017 |
Study information
Verified date |
November 2021 |
Source |
Assistance Publique - Hôpitaux de Paris |
Contact |
n/a |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial 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.
Description:
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.