Epidemiological and clinical research

The first step for a rare disease is to identify all patients nationwide. In France, since 2004, after having informed the parents, and with their consent, the hematologic pediatricians of the 30 CHUs have included children under 18 years of age with autoimmune cytopenia in the national long-term follow-up OBS ‘cohort. CEREVANCE, coordinated in Bordeaux. All the information contained in the children’s medical file is thus recorded. This cohort has nearly 1,000 patients in November 2014, 30% of whom have become adults. It has no known equivalent in other countries.

This cohort allows us to better understand and better treat these rare diseases

Description of the long-term course of children and adolescents, and the elements that predict recovery, or the onset of other diseases.
Support of clinical information for fundamental biological studies and retrospective and prospective therapeutic studies
Support of clinical information for diagnostic and therapeutic management (advice at the national level, establishment of recommendations)

To go further: www.cerevance.org

Immunological and genetic research

While the mechanisms that lead to the accelerated destruction of platelets during ITP, or red blood cells during AHAI are fairly well known, the very causes of the disease are much less so. Disorders of the immune system are probably often the cause of these diseases. Several French teams have initiated research projects in the field of immune deficiencies or other diseases of the immune system (lupus, etc.) which are associated with autoimmune cytopenia. They should make it possible to better define the mechanisms and refine the treatments.

In particular, the INSERM team of Prof. Frédéric Rieux-Laucat, at Necker Hospital in Paris, has been studying since 2008 the few rare families where a genetic predisposition to develop autoimmune cytopenias is suspected. If the parents of the sick child are related, if his parents or one of his siblings also have an autoimmune disease, then the referring doctor will suggest that a blood test be taken for the whole family, which will be sent to Necker, for research purposes. It can sometimes take several years to see results from these studies, which are useful for patients.

Recherche thérapeutique

Many immunosuppressive drugs, often old, or splenectomy are used in children and adults to treat these diseases. The retrospective and prospective analysis of the balance between their efficacy and their adverse effects is possible for large numbers of patients, thanks to the information contained in the OBS’CEREVANCE cohort (5 retrospective studies published between 2007 and 2013, VIGICAIRE study in course, funded by the National Medicines Safety Agency, 2014-2017). It is therefore important that any child who receives treatment for autoimmune cytopenia is included in this cohort.

“New” drugs have been available since the 1990s (anti-CD20 antibodies, rituximab for ITP or AHAI), and the years 2009-2010 (thrombopoietin receptor agonists, romiplostim or eltrombopag for ITP). Ongoing studies aim to assess and compare the benefits of each of these treatments, to determine a strategy for their use, as a second line when corticosteroids or immunoglobulins do not work.