International Rare Histiocytic Disorders Registry (IRHDR) (IRHDR)

June 18, 2025 updated by: Oussama Abla, The Hospital for Sick Children
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Argentina
      • Buenos Aires, Argentina
        • Recruiting
        • Hospital Nacional de Pediatria Garrahan
        • Contact:
        • Principal Investigator:
          • Guido Felizzia, MD
  • Canada
    • Ontario
    • Quebec
      • Montréal, Quebec, Canada, H3T 1C5
        • Active, not recruiting
        • Centre Hospitalier Universitaire Sainte-Justine
  • Czechia
      • Brno, Czechia
        • Recruiting
        • University Hospital Brno
        • Contact:
        • Principal Investigator:
          • Zdenka Křenová, MD
  • Germany
  • Italy
      • Florence, Italy
        • Recruiting
        • Azienda Ospedaliero-Universitaria Meyer
        • Contact:
        • Principal Investigator:
          • Elena Sieni, MD
  • Netherlands
    • CS
      • Utrecht, CS, Netherlands, 3584
  • Poland
      • Warsaw, Poland
        • Recruiting
        • Children's Memorial Health Institute
        • Contact:
        • Principal Investigator:
          • Olga Gryniewicz-Kwiatkowska, MD
  • Spain
      • Barakaldo, Spain
        • Recruiting
        • Hospital Universitario Cruces
        • Contact:
          • Itziar Astigarraga, MD
          • Phone Number: 34 946006000
        • Principal Investigator:
          • Itziar Astigarraga, MD
  • United States
    • Alabama
      • Birmingham, Alabama, United States
        • Recruiting
        • The University of Alabama at Birmingham
        • Principal Investigator:
          • Gaurav Goyal
        • Contact:
    • California
      • Los Angeles, California, United States, 90027
        • Recruiting
        • Children's Hospital of Los Angeles
        • Principal Investigator:
          • Rima Jubran, MD
        • Contact:
      • Madera, California, United States, 93636
        • Recruiting
        • Valley Children's Hospital
        • Contact:
        • Principal Investigator:
          • Faizal Razzaqi, MD
    • Massachusetts
      • Boston, Massachusetts, United States, 02215
    • New York
      • New York, New York, United States, 10022
        • Recruiting
        • Memorial Sloan Kettering Cancer Center
        • Principal Investigator:
          • Eli Diamond, MD
        • Contact:
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15219
        • Recruiting
        • University of Pittsburgh Medical Center
        • Principal Investigator:
          • Steven Allen, MD
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Rare Histiocytic Disorders:

  1. Xanthogranuloma Family (XG)

    • Cutaneous
    • Benign cephalic histiocytosis (BCH)
    • Generalized eruptive histiocytosis (GEH)
    • Progressive nodular histiocytosis (PNH)
    • Xanthoma disseminatum (XD)
    • Giant XG
    • Reticulohistiocytoma
    • Ocular
    • Systemic
  2. Erdheim-Chester Disease (ECD)

  3. Rosai-Dorfman disease (RDD)

    • Single system
    • Nodal
    • Extranodal
    • Skin
    • CNS
    • Bone
    • Orbit
    • Other
    • Multisystemic
  4. Indeterminate Dendritic Cell Histiocytosis

  5. Malignant Histiocytic Neoplasm (MHN)

    • Histiocytic
    • Langerhans cell
    • Interdigitating dendritic cell
    • Indeterminate dendritic cell
    • Primary MHN
    • Secondary to:
    • ALL
    • Follicular lymphoma
    • Other B-cell lymphoma
    • Other hematologic malignancy
    • Histiocytosis
  6. ALK-positive Histiocytosis

  7. Mixed Histiocytosis (MXH)

    • ECD/LCH
    • RDD/LCH
    • RDD/ECD
    • LCH/JXG
    • Other

  8. Other

    • Multicentric reticulohistiocytoma (MRH)
    • Necrobiotic xanthogranuloma (NX)
    • Not otherwise specified (NOS)

Description

Inclusion Criteria:

  1. Any age at diagnosis.
  2. Diagnosis of a rare histiocytic disorder, established before or after the opening of the registry.
  3. Cases diagnosed from January - 01- 1995 until the present time and prospectively.
  4. Signed informed consent by a patient, or parent/legal guardian.
  5. Cognitively impaired patients can be included after consent by legal guardian/parent.
  6. 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:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
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.
Data will be analysed on average yearly, the registry will be ongoing for 10 years.

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
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.
Data will be analysed on average yearly, the registry will be ongoing for 10 years.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The Hospital for Sick Children

Investigators

  • Principal Investigator: Oussama Abla, MD, The Hospital for Sick Children

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2014

Primary Completion (Estimated)

September 1, 2028

Study Completion (Estimated)

September 1, 2028

Study Registration Dates

First Submitted

November 3, 2014

First Submitted That Met QC Criteria

November 4, 2014

First Posted (Estimated)

November 7, 2014

Study Record Updates

Last Update Posted (Actual)

June 24, 2025

Last Update Submitted That Met QC Criteria

June 18, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1000045224

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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