Grant Awarded in 2014

International Registry of Rare Histiocytic Disorders

Principal Investigator
Oussama Abla, MD
The Hospital for Sick Children, Toronto, Ontario Canada

Date of Award
December 2014

Amount of Award

Layperson Summary
Histiocytoses are rare diseases caused by an excess of cells called Histiocytes, which can infiltrate the skin, bones, lungs, liver, spleen and the central nervous system. These disorders can range from localized involvement that resolves spontaneously, to progressive disseminated forms that can be debilitating and sometimes life-threatening. The rare histiocytic disorders (RHD), or non-Langerhans cell disorders, are adiverse group of disorders defined by the accumulation of histiocytes that do not meet the criteria for Langerhans cell histiocytosis (LCH) or hemophagocytic lymphohistiocytosis (HLH). They include: Juvenile xanthogranuloma family, Erdheim-Chester disease, Multifocal Reticulohistiocytosis, Rosai-Dorfman disease and the Malignant Histiocytoses. Since they are so rare, there is limited understanding of their causes and treatments. Physicians, patients and parents of children with rare histiocytoses frequently consult members of the Histiocyte Society on the management of these disorders. Very often, no specific recommendation about treatment can be made due to the lack of prospective outcome data for these rare entities. The creation of an International Rare Histiocytic Disorders Rregistry (IRHDR) will facilitate auniform diagnosis of the RHD’s, as well as the collection and analysis of the clinical, epidemiological, treatment and survival data of patients with RHD. The registry will also provide expert pathology reviews and may lead to future therapeutic recommendations. Furthermore, the IRHDR can provide a framework for future clinical trials, thus, creating excellent research opportunities. Lastly, a de-identified link between clinical data and companion biology studies can potentially be accomplished in the future through the IRHDR. This may further help in understanding the etiology of these rare diseases, as well as identifying potential therapeutic targets.

Twelve Month Report
Locally at SickKids we have enrolled 7 patients and more patients are being approached locally. The pathology samples for 6 patients have been reviewed by central pathologists at Children’s Hospital of Pittsburgh of UPMC.

The following centers are approved to enroll patients:

  • Center in Argentina (Hospital de Pediatria Garrahan, Buenos Aires)
  • Spain – University Hospital de Cruces
  • Russia – Morozov Children’s Hospital, Moscow
  • USA – Children’s Hospital of Los Angeles 
  • Canada – CHU Sainte-Justine

Multiple centers in Europe, US and South America are in the process of ethics and legal approval.

IRHDR Database: Centers Hospital de Pediatria Garrahan, Buenos Aires, Children’s Hospital of Los Angeles, CHU Sainte-Justine have been given access to the database. The centers in Spain University Hospital de Cruces and Morozov Children’s Hospital, Moscow are in the process of being given access.

Biobank: SickKids is in the process of finalizing the Biobank repository for patients enrolled in the IRHDR. A protocol amendment will be sent out to participating centers. 


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