• Background
• Purpose
• Eligibility to Participate
• Procedures to Enroll a Subject
• Confidentiality
• Procedures for Sending Pathology Samples
• Designated Pathology Reviewers and Shipping Addresses
• Contact

BACKGROUND:
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 involvements that resolve 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 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, Malignant Histiocytoses, ALK+ Histiocytosis, Indeterminate cell Histiocytosis, and Mixed Histiocytoses.

PURPOSE:
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 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 therapeutic recommendations or a framework for future clinical trials. A de-identified link between clinical data and companion biology studies may be accomplished in the future through the IRHDR. This may help understand the etiology of these rare diseases and identify potential therapeutic targets.

ELIGIBILITY TO PARTICIPATE IN THE IRHDR:

• Any age at diagnosis.
• Diagnosis of a rare histiocytic disorder, established before or after the opening of the registry (retrospective and/or prospective).
• Cases diagnosed from January-01-1995 until the present time and prospectively.
• Suitable pathology sample must be available for central review.
• Signed informed consent form must be signed by a patient, or parent/legal guardian.
• Cognitively impaired patients can be included after consent by legal guardian/parent.
• 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.

PROCEDURES TO ENROLL A SUBJECT IN THE IRHDR:

• The study coordinators will review consent forms directly with local patients/parents and will obtain their consent.
• In the case of non-local patients, the consent can be obtained via telephone by one of the local participating IRHDR sites who will then be responsible for entering all data for this patient.
• In the case of non-English-speaking participants, the consent can be obtained with the help of a delegate.
• Participating centers must submit de-identified consent/assent forms to the SickKids study coordinator via email upon enrollment.
• Patients’ data will be entered directly into the REDCap database by the submitting center’s PI/CRA.
• Participants may choose to take part in the optional biobank sub-study. The biobank sub-study stores and banks patients’ samples for future research studies to learn about, prevent, or treat rare histiocytic disorders. The Biobank is located in SickKids, Toronto, Canada.
• Contact the SickKids study coordinator for any questions/concerns.

CONFIDENTIALITY:

Each patient will be assigned a study identification number (Study ID). Identifying information such as the patient’s name and medical record number will excluded. No identifying information other than the patient’s study ID will be stored in the database.

PROCEDURES FOR SENDING PATHOLOGY SAMPLES TO THE DESIGNATED PATHOLOGY REVIEWER:

• Cases cannot be submitted or accepted for pathological review until consent has been obtained by participants.
• Material for review can be sent by courier directly from the submitting center to the reviewer identified by the registry. It must include the de-identified Institutional Pathology Report (even if incomplete), clinical summary and glass slides: 1 H&E and 10 unstained slides for immunostains (or a tissue block).
• The reviewer will get additional stains if needed for diagnosis and prepare a report that will be faxed to the registry.
• Original slides will be stored at The Hospital for Sick Children Biobank, if the optional biobank study has been consented to. If the optional biobank study is declined, slides will be returned directly from the reviewer to the submitting center.
• Shipping charges and immunostain fees will be reimbursed by the registry. All invoices or questions can be sent to [email protected]
• If possible, one shipment of all retrospective cases at each center is preferred.

DESIGNATED PATHOLOGY REVIEWERS AND SHIPPING ADDRESSES:

North American Central Pathology Review Center 
Samples from cases diagnosed in North America will be reviewed by Dr. Jennifer Picarsic.

*Please note new shipping address as of July 18, 2024
Shipping Address:
Jennifer Picarsic, MD
Marjory K. Harmer Memorial Endowed Chair for Pediatric Pathology
UPMC Children's Hospital of Pittsburgh, Chief of Pathology and Head of Laboratories
4401 Penn Ave.
Department of Pathology B260
Pittsburgh, PA 15224
[email protected]
Phone: 412-692-5650

South American Central Pathology Review Center
Those diagnosed in South America, Australia/New Zealand or Africa will be shipped to Dr Laura Galluzzo.

Shipping Address:
M. Laura Galluzzo Mutti
Patóloga Pediátrica
Htal Nacional de Pediatría Dr Prof J. P Garrahan
Combate de los Pozos 1881. CP 1245
Buenos Aires, Argentina

European Central Pathology Review Center
Cases from Europe will be shipped to Jean-François Emile, MD, PhD.

Shipping Address:
Jean-François Emile, MD, PhD
Service de pathologie
Hopital Ambroise Paré
9 Av. Charles de Gaulle
92104 Boulogne France

CONTACT:

For questions or to register for the IRHDR contact [email protected] or  [email protected].

The IRHDR is registered with ClinicalTrials.gov: NCT02285582

Updated July 2019