Clinical trial NCT02285582: International Rare Histiocytic Disorders Registry (IRHDR)
Official title: International Rare Histiocytic Disorders Registry (IRHDR)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Rare Histiocytic Disorders (RHDs)
Juvenile Xanthogranuloma (JXG)
Reticulohistiocytoma (epithelioid Histiocytoma)
Xanthoma Disseminatum (XD)
Multicentric Reticulohistiocytosis (MRH)
Systemic Juvenile Xanthogranuloma
Erdheim-Chester Disease (ECD)
Multi-system Rosai-Dorfman Disease (RDD)
Lead sponsor: The Hospital for Sick Children
Sponsor class: OTHER
First posted: 2014-11-07
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient with rare histiocytic disorder.

Rare histiocytic disorders include:

1. Cutaneous non-LCH: such as the Juvenile Xanthogranuloma (JXG) family and reticulohistiocytoma (epithelioid histiocytoma); cutaneous Rosai-Dorfman disease
2. Cutaneous with a major systemic component

   * Xanthoma disseminatum (XD)
   * Multicentric reticulohistiocytosis (MRH)
3. Systemic non-LCH

   * Systemic juvenile xanthogranuloma
   * Erdheim-Chester disease (ECD)
   * Multi-system Rosai-Dorfman disease (RDD).
4. Malignant Histiocytoses

   * Histiocytic sarcoma
   * Langerhans cell sarcoma
   * Interdigitating dendritic cell sarcoma
   * Indeterminate dendritic cell tumour
5. ALK+ Histiocytosis

Brief summary: 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.

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.
* Suitable pathology sample available for central review.
* 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 provided that 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.
* Patients with no pathology sample available for central review.
* Cases diagnosed before the year 1995

Primary outcomes:
measure: 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.
timeFrame: Data will be analysed on average yearly, the registry will be ongoing for 10 years.
Secondary outcomes:
measure: Develop treatment guidelines for the RHD based on solid clinical trial data.
timeFrame: Data will be analysed on average yearly, the registry will be ongoing for 10 years.
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Children's Hospital of Los Angeles
state: California
city: Madera
country: United States
facility: Valley Children's Hospital
state: California
city: Boston
country: United States
facility: Dana-Farber Cancer Institute
state: Massachusetts
city: New York
country: United States
facility: Memorial Sloan Kettering Cancer Center
state: New York
city: Pittsburgh
country: United States
facility: University of Pittsburgh Medical Center
state: Pennsylvania
city: Buenos Aires
country: Argentina
facility: Hospital Nacional de Pediatria Garrahan
city: Linz
country: Austria
facility: ELISABETHINEN Hospital Linz GmbH
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
city: Montréal
country: Canada
facility: Centre hospitalier universitaire Sainte-Justine
state: Quebec
city: Brno
country: Czechia
facility: University Hospital Brno
city: Rostock
country: Germany
facility: Rostock University Medical Hospital
city: Florence
country: Italy
facility: Azienda Ospedaliero-Universitaria Meyer
city: Utrecht
country: Netherlands
facility: Prinses Maxima Center
state: CS
city: Warsaw
country: Poland
facility: Children's Memorial Health Institute
city: Barakaldo
country: Spain
facility: Hospital Universitario Cruces
Study officials:
affiliation: The Hospital for Sick Children
name: Oussama Abla, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.