International Rare Histiocytic Disorders Registry (IRHDR)

Overview

The rare histiocytic disorders (RHDs) are characterized by the infiltration of one or more organs by non-LCH histiocytes. They can range from localized disease that resolves spontaneously, to progressive disseminated forms that can be sometimes life-threatening. Since they are extremely rare, there is limited understanding of their causes and best treatment options. Physicians, patients and parents of children with RHDs frequently consult members of the Histiocyte Society regarding the best management of these disorders. Very often, no specific recommendation can be made due to the lack of prospective outcome data, or even large retrospective case series. The creation of an international rare histiocytic disorders registry (IRHDR) could 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 may also lead to future therapeutic recommendations, provide a framework for future clinical trials and create excellent research opportunities.

Detailed description

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 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.

Interventions

• Other Registry study
  No intervention.

Primary outcome measures

• Collecting data on disease presentation, treatments used and treatment outcomes over time for patients diagnosed with RHD to better understand the diseases and optimize the treatments. [Time frame: Data will be analysed on average yearly, the registry will be ongoing for 10 years.]

Secondary outcome measures (1)

• Develop treatment guidelines for the RHD based on solid clinical trial data. [Time frame: Data will be analysed on average yearly, the registry will be ongoing for 10 years.]

Eligibility criteria

Inclusion criteria

• Any age at diagnosis.
• Diagnosis of a rare histiocytic disorder, established before or after the opening of the registry.
• Cases diagnosed from January - 01- 1995 until the present time and prospectively.
• Signed informed consent by a patient, or parent/legal guardian.
• Cognitively impaired patients can be included after consent by legal guardian/parent.
• Deceased patients can be included if they are contacted at least 6 months after the death of their child and not on their child's birthday or anniversary of death.

Exclusion criteria

• Informed consent has not been signed.
• Diagnosis other than RHD.
• Cases diagnosed before the year 1995.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model

Case-only

Study locations

United States · 6 centers

• The University of Alabama at Birmingham — Birmingham
• Children's Hospital of Los Angeles — Los Angeles
• Valley Children's Hospital — Madera
• Dana-Farber Cancer Institute — Boston
• Memorial Sloan Kettering Cancer Center — New York
• University of Pittsburgh Medical Center — Pittsburgh

Canada · 2 centers

• The Hospital for Sick Children — Toronto
• Centre hospitalier universitaire Sainte-Justine — Montreal

Argentina · 1 center

• Hospital Nacional de Pediatria Garrahan — Buenos Aires

Czechia · 1 center

• University Hospital Brno — Brno

Germany · 1 center

• Rostock University Medical Hospital — Rostock

Italy · 1 center

• Azienda Ospedaliero-Universitaria Meyer — Florence

Netherlands · 1 center

• Prinses Maxima Center — Utrecht

Poland · 1 center

• Children's Memorial Health Institute — Warsaw

Spain · 1 center

• Hospital Universitario Cruces — Barakaldo

Publications

• Weitzman S, Jaffe R. Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses. Pediatr Blood Cancer. 2005 Sep;45(3):256-64. doi: 10.1002/pbc.20246. PMID 15547923

Identifiers

NCT: NCT02285582 · 1000045224

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗