International Rare Histiocytic Disorders Registry (IRHDR)

NCT ID: NCT02285582

Last Updated: 2025-06-24

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2014-10-31
• Study Completion Date: 2028-09-30

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.

Conditions

Rare Histiocytic Disorders (RHDs); Erdheim-Chester Disease (ECD); Rosai-Dorfman Disease (RDD); Xanthogranuloma Family (XG); Indeterminate Dendritic Cell Histiocytosis; Malignant Histiocytic Neoplasm (MHN); ALK-positive Histiocytosis; Mixed Histiocytosis (MXH); Multicentric Reticulohistiocytoma (MRH); Necrobiotic Xanthogranuloma (NX)

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: OTHER

Interventions

Registry study

No intervention.

Intervention Type: OTHER

Eligibility Criteria

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.

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

The Hospital for Sick Children

OTHER

Sponsor Role: lead

Responsible Party

Oussama Abla

Staff Physician

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Oussama Abla, MD

Role: PRINCIPAL_INVESTIGATOR

The Hospital for Sick Children

Locations

The University of Alabama at Birmingham

Birmingham, Alabama, United States

Site Status: RECRUITING

Children's Hospital of Los Angeles

Los Angeles, California, United States

Site Status: RECRUITING

Valley Children's Hospital

Madera, California, United States

Site Status: RECRUITING

Dana-Farber Cancer Institute

Boston, Massachusetts, United States

Site Status: RECRUITING

Memorial Sloan Kettering Cancer Center

New York, New York, United States

Site Status: RECRUITING

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, United States

Site Status: RECRUITING

Hospital Nacional de Pediatria Garrahan

Buenos Aires, , Argentina

Site Status: RECRUITING

The Hospital for Sick Children

Toronto, Ontario, Canada

Site Status: RECRUITING

Centre hospitalier universitaire Sainte-Justine

Montreal, Quebec, Canada

Site Status: ACTIVE_NOT_RECRUITING

University Hospital Brno

Brno, , Czechia

Site Status: RECRUITING

Rostock University Medical Hospital

Rostock, , Germany

Site Status: RECRUITING

Azienda Ospedaliero-Universitaria Meyer

Florence, , Italy

Site Status: RECRUITING

Prinses Maxima Center

Utrecht, CS, Netherlands

Site Status: RECRUITING

Children's Memorial Health Institute

Warsaw, , Poland

Site Status: RECRUITING

Hospital Universitario Cruces

Barakaldo, , Spain

Site Status: RECRUITING

Countries

United States; Argentina; Canada; Czechia; Germany; Italy; Netherlands; Poland; Spain

Central Contacts

Oussama Abla, MD

Role: CONTACT

oussama.abla@sickkids.ca

416-813-7879 ext. 407879

Facility Contacts

Gaurav Goyal, MD

Role: primary

ggoyal@uabmc.edu

Rima Jubran, MD

Role: primary

rjubran@chla.usc.edu

323-361-4624

Faisal Razzaqi, MD

Role: primary

frazzaqi@valleychildrens.org

559-353-3000

Barbara Degar, MD

Role: primary

barbara_degar@dfci.harvard.edu

Eli Diamond, MD

Role: primary

diamone1@mskcc.org

212-610-0188

Steven Allen, MD

Role: primary

steven.allen@chp.edu

Guido Felizzia, MD

Role: primary

guidofelizzia@gmail.com

5411 41226254

Oussama Abla, MD

Role: primary

oussama.abla@sickkids.ca

416-813-7879

Arnelle Lardizabal, HBSc

Role: backup

arnelle.lardizabal@sickkids.ca

416-813-6431 ext. 406431

Zdenka Křenová, MD

Role: primary

Krenova.Z@seznam.cz

Carl Friedrich Classen, MD

Role: primary

carl-friedrich.classen@med.uni-rostock.de

Elena Sieni, MD

Role: primary

elena.sieni@meyer.it

Leonie Naeije, MD

Role: primary

l.naeije-3@prinsesmaximacentrum.nl

Olga Gryniewicz-Kwiatkowska, MD

Role: primary

O.Gryniewicz@IPCZD.PL

Itziar Astigarraga, MD

Role: primary

34 946006000

References

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.

Reference Type: BACKGROUND

PMID: 15547923 (View on PubMed)

Other Identifiers

1000045224

Identifier Type: -

Identifier Source: org_study_id