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

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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 Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
The Hospital for Sick Children

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • 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

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
October 1, 2014

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
September 1, 2028

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 1, 2028

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
November 3, 2014

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 4, 2014

First Posted (Estimated)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
November 7, 2014

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
June 24, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 18, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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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