INTERNATIONAL RARE HISTIOCYTIC DISORDERS REGISTRY (IRHDR)
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 a diverse 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 Registry (IRHDR) will facilitate a uniform diagnosis of the RHDs, 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 may 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.
Consent Procedures: Local and Outside Patients:
Data to be Collected:
The following documents and samples will be requested by the study coordinator from the patient’s health care provider(s):
Participants may choose to take part in a sub-study that is an optional component of the main registry study. The main registry study collects information about patients with rare histiocytic disorders (RHD). The biobank sub-study stores and banks patients’ samples for future research studies to learn about, prevent, or treat rare histiocytic disorders.
Each patient will be assigned a study identification number (ID); identifying information such as patients’ names and medical record numbers will then be stripped from the medical documents, and no identifying information other than the patients’ IDs will be stored in the database. A separate record which links patient identifiers with their ID will be maintained in a secure protected environment by the project PI.
Cases cannot be submitted or accepted for pathological review until consent has been obtained by participants.
North American Central Pathology Review Center
Samples from cases diagnosed in North America will be reviewed by Dr. Jennifer Picarsic and shipped to Cincinnati Children's Hospital Medical Center:
Jennifer Picarsic, MD
Cincinnati Children's Hospital Medical Center
Pathology and Lab Medicine
3333 Burnet Ave., MLC 1035
Cincinnati, OH 45229 USA
South American Central Pathology Review Center
Those diagnosed in South America, Australia/New Zealand or Africa will be shipped to Dr Laura Galluzzo:
M. Laura Galluzzo Mutti
Htal Nacional de Pediatría Dr Prof J. P Garrahan
Combate de los Pozos 1881. CP 1245
Buenos Aires, Argentina
European Central Pathology Review Center
Cases from Europe will be shipped to Jean-François Emile, MD, PhD:
Jean-François Emile, MD, PhD
Service de pathologie
Hopital Ambroise Paré
9 Av. Charles de Gaulle
92104 Boulogne France
The IRHDR is registered with ClinicalTrials.gov: NCT02285582
Updated July 2019