Evaluation of the Pathobiology of CALR-mutated MPN Cells

The purpose of this study is to understand why there is a greater risk of thrombosis in patients who have the JAK2 mutation as compared to those with CALR mutations.

Study Overview

• Status: Recruiting
• Conditions: Myeloproliferative Neoplasm
• Intervention / Treatment: Other: Blood Draw

Detailed Description

This biospecimen study is designed to evaluate the expression levels of TLR 2 and TLR 4 on mononuclear cells in CALR mutation positive MPN participants and compare to JAK2 V617F mutation positive MPN patients and healthy controls. Patients who have MPN with the CALR mutation positive will be approached for interest in participating in this study. A research blood collection will occur at any time during the participant's cancer trajectory after enrollment, during a standard of care blood draw. The participant's demographics, MPN subtype, CALR mutation status, history of thrombosis/other medical history, and current, concomitant medications will be collected once. Clinical data will be collected, including results from the CBC with differential, complete metabolic panel (if available), and PT/PTT/INR (if available) drawn closest to the research blood collection. This study will initially open as a single center study at AHWFBCCC.

• Study Type: Observational
• Enrollment (Estimated): 35

Contacts and Locations

• Study Contact: Name: Courtney Schepel; Phone Number: (980) 292-0817; Email: Courtney.Schepel@atriumhealth.org

Study Locations

• United States
  • North Carolina
    • Charlotte, North Carolina, United States, 28204
      • Recruiting
      • Atrium Health Levine Cancer
      • Contact: Courtney Schepel; Phone Number: (980) 292-0817; Email: Courtney.Schepel@atriumhealth.org
      • Principal Investigator: Aleksander Chojecki, MD
    • Winston-Salem, North Carolina, United States, 27157
      • Recruiting
      • Wake Forest Baptist Comprehensive Cancer Center
      • Principal Investigator: Ruben Mesa, MD
      • Contact: Ruben Mesa, MD; Phone Number: 336-716-4618; Email: ruben.mesa@atriumhealth.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Patients seen in the clinic with MPN with the CALR mutation will be identified and approached for consent.

Description

Inclusion Criteria:

• Written (or electronic) informed consent and HIPAA authorization for release of personal health information by participant or his/her legally authorized representative (LAR).
• Age ≥ 18 years at the time of enrollment
• Diagnosis of myeloproliferative neoplasm (MPN) according to 2022 World Health Organization classification of MDS/MPNs
• CALR-positive genetic mutation

Exclusion Criteria:

- Diagnosis of MPN with JAK2 V617F mutation

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
JAK2 V617F mutation positive MPN patients; Patients with MPN disease with a JAK2 mutation	Other: Blood Draw; The amount of blood that will be collected for this is 50 mL(milliliters), or about 3 ½ tablespoons.
CALR-mutation positive patients; Patients with MPN disease with a CALR mutation	Other: Blood Draw; The amount of blood that will be collected for this is 50 mL(milliliters), or about 3 ½ tablespoons.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Expression levels of TLR 2 and TLR 4	Percentages of mononuclear cells expressing TLR 2 and TLR 4 will be calculated for each participant.	24 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Plasma levels of inflammatory cytokines	Presence and levels of inflammatory cytokines, IFN-γ, IL-1β, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12p70, IL-13, and TNF-α, will be recorded by multiplex Elisa for each participant.	24 months
Plasma levels of inflammatory cytokines following incorporation of TLR ligands	Presence and levels of inflammatory cytokines, IFN-γ, IL-1β, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12p70, IL-13, and TNF-α, will be calculated for each participant using the in vitro cell culture system.	24 months
History of thrombosis	Determined for each participant as a binary variable indicating whether this participant had history of thrombosis.	24 months

Collaborators and Investigators

• Sponsor: Wake Forest University Health Sciences
• Collaborators: Brookdale University Hospital Medical Center; Atrium Health Levine Cancer Institute
• Investigators: Principal Investigator: Aleksander Chojecki, MD, Atrium Health Levine Cancer

Study record dates

Study Major Dates

• Study Start (Actual): January 21, 2025
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): September 1, 2026

Study Registration Dates

• First Submitted: June 7, 2024
• First Submitted That Met QC Criteria: June 27, 2024
• First Posted (Actual): June 28, 2024

Study Record Updates

• Last Update Posted (Actual): May 22, 2026
• Last Update Submitted That Met QC Criteria: May 21, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Thrombosis; CALR mutation; JAK2 mutation
• Additional Relevant MeSH Terms: Vascular Diseases; Cardiovascular Diseases; Hematologic Diseases; Embolism and Thrombosis; Bone Marrow Diseases; Hemic and Lymphatic Diseases; Thrombosis; Myeloproliferative Disorders; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: IRB00100615; P30CA012197 (U.S. NIH Grant/Contract); LCI-HEM-MPN-CALR-001 (Other Identifier: Atrium Health)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Releasing the Individual Participant Data (IPD) is not required to meet the study objectives, and therefore is not planned to be released. Additionally, there is no plan to share data, particularly individual participant data, with anyone who is not already involved in the study

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