Molecular Basis of Langerhans and Non-Langerhans Cell Histiocytic Neoplasms and Castleman Disease

NCT05028621 | Suspended FDA Device

• 1 other identifier: CASE7Z20
• Study Type: interventional
• Target: 135
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to use agnostic genomic evaluation using whole exome sequencing (WES) of a variety of rare hematologic diseases grouped under rare blood diseases and its variants to further elucidate the understanding of the chemistry of these disorders and identify potential actionable mutations that can be targeted with therapies in the context of clinical trials.

Conditions

Castleman's Disease (CD); Langerhans Cell Histiocytosis (LCH); Non-Langerhans-Cell Histiocytosis

Outcome Measures

Primary Outcomes (1)

• Proportion of genomic analyses yielding genetic aberrations

  Proportion of genomic analyses yielding actionable genetic aberrations. "Actionable" is defined as a mutation linked to an approved therapy in the particular disease under study or another disease, a known or suspected contraindication to a given therapy, or a clinical trial linked to the alteration

  Up to 12 months from last participant accrued

Secondary Outcomes (4)

• Proportion of genomic analyses yielding actionable genetic aberrations

  Up to 12 months from last participant accrued

• Proportion of genomic analyses yielding germline genetic aberrations

  Up to 12 months from last participant accrued

• Referral rates for genetic counseling for germline mutations

  Up to 12 months from last participant accrued

• Completion rates of genetic counseling for germline mutations

  Up to 12 months from last participant accrued

Study Arms (1)

Genomic analysis

EXPERIMENTAL

When a participant's disorder was diagnosed, blood or tissue specimen was collected. A part of the tissue or blood will be sent to an outside company, Tempus, to be tested for specific genetic changes and the results will be sent back to participants' physician.

Diagnostic Test: Genetic testing

Interventions

Genetic testing DIAGNOSTIC_TEST

Genetic testing of blood or tissue sample and limited medical information sent to an outside company. Database will link genome sequence data with human trait information, including cancer and other diseases, to be sent to participant's physician.

Genomic analysis

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Must have histopathologic confirmation of the particular rare hematologic disease.
• Diseases that will be considered as rare hematologic diseases for this study will include the following
• Langerhans cell histiocytosis (LCH)
• Erdhiem Chester disease (ECD)
• Rosai-Dorfman disease (RDD)
• Miscellaneous histiocytic entities -indeterminate dendritic cell tumor, interdigitating dendritic cell sarcoma, follicular dendritic cell sarcoma, fibroblastic reticular cell tumor
• Unicentric Castleman disease
• Multicentric Castleman disease including TAFRO
• Follicular Dendritic Cell sarcoma (FDCS)
• Collected as part of the evaluation for diagnostic confirmation
• Tissue specimen or extracted DNA (from blood sample) banked in IRB approved tissue repositories and obtained within five years prior to the date of informed consent. -Tissue samples are planned to be collectedfrom previously stored surgical specimens already being stored in pathology lab
• Consent to have germline testing performed in parallel to tumor testingg)Patients willing to receive treatmen

You may not qualify if:

• Life expectancy of less than 6months
• Patient unwilling to have germline testing performed on peripheral blood or buccal mucosa

Sponsors & Collaborators

• Case Comprehensive Cancer Center: lead

Study Sites (1)

Cleveland Clinic, Case Comprehensive Cancer Center

Cleveland, Ohio, 44106-5065, United States

Location

MeSH Terms

Conditions

Castleman Disease; Histiocytosis, Langerhans-Cell; Histiocytosis, Non-Langerhans-Cell

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Immunoproliferative Disorders; Immune System Diseases; Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases; Histiocytosis

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Sudipto Mukherjee, MD, PhD

  Cleveland Clinic, Case Comprehensive Cancer Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 25, 2021
• First Posted: August 31, 2021
• Study Start: June 18, 2021
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: February 20, 2026

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will share

Locations

US (1)