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International Rare Histiocytic Disorders Registry (IRHDR)

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)
Registration Number
NCT02285582
Lead Sponsor
The Hospital for Sick Children
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.

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
300
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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
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.Data will be analysed on average yearly, the registry will be ongoing for 10 years.

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. Data will be analysed on average yearly, the registry will be ongoing for 10 years.

Secondary Outcome Measures
NameTimeMethod
Develop treatment guidelines for the RHD based on solid clinical trial data.Data will be analysed on average yearly, the registry will be ongoing for 10 years.

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

Trial Locations

Locations (15)

Dana-Farber Cancer Institute

🇺🇸

Boston, Massachusetts, United States

University of Pittsburgh Medical Center

🇺🇸

Pittsburgh, Pennsylvania, United States

Rostock University Medical Hospital

🇩🇪

Rostock, Germany

Prinses Maxima Center

🇳🇱

Utrecht, CS, Netherlands

Children's Hospital of Los Angeles

🇺🇸

Los Angeles, California, United States

Valley Children's Hospital

🇺🇸

Madera, California, United States

Memorial Sloan Kettering Cancer Center

🇺🇸

New York, New York, United States

Hospital Nacional de Pediatria Garrahan

🇦🇷

Buenos Aires, Argentina

ELISABETHINEN Hospital Linz GmbH

🇦🇹

Linz, Austria

The Hospital for Sick Children

🇨🇦

Toronto, Ontario, Canada

Centre hospitalier universitaire Sainte-Justine

🇨🇦

Montréal, Quebec, Canada

University Hospital Brno

🇨🇿

Brno, Czechia

Azienda Ospedaliero-Universitaria Meyer

🇮🇹

Florence, Italy

Children's Memorial Health Institute

🇵🇱

Warsaw, Poland

Hospital Universitario Cruces

🇪🇸

Barakaldo, Spain

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