Chronic mast cell leukemia

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1FDA treatments31Specialists8Treatment centers2Financial resources

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Chronic mast cell leukemia (also sometimes called chronic MCL) is a very rare and serious blood cancer that involves abnormal mast cells. Mast cells are a type of immune cell normally found in tissues throughout the body. They play an important role in allergic reactions and fighting infections. In chronic mast cell leukemia, these cells grow out of control and build up in the bone marrow, blood, and organs like the liver, spleen, and skin. Unlike the acute form of this disease, the chronic form tends to progress more slowly, but it is still considered a life-threatening condition. People with this disease often experience a wide range of symptoms because mast cells release powerful chemicals that affect many parts of the body. These chemicals can cause severe allergic-like reactions, skin changes, bone pain, and problems with the digestive system. The spleen and liver may become enlarged, causing discomfort and a feeling of fullness. Treatment is focused on controlling the growth of abnormal mast cells and managing symptoms. Targeted therapies, including drugs that block a protein called KIT (such as midostaurin and avapritinib), have improved care for some patients. Stem cell transplant may be considered in certain cases. Because this disease is so rare, care at a specialized center with experience in mast cell diseases is strongly recommended.

Also known as:

Key symptoms:

Severe allergic-like reactions (flushing, hives, swelling)Bone pain or tendernessFatigue and weaknessEnlarged spleen causing abdominal discomfort or fullnessEnlarged liverSkin lesions or reddish-brown spots (urticaria pigmentosa)Nausea, vomiting, or diarrheaLow blood counts leading to anemia or increased infectionsUnexplained weight lossNight sweatsItching (especially after heat, exercise, or stress)Low blood pressure or fainting episodes

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

FDA & Trial Timeline

8 events
Mar 2026A Study of APG-3288 in Relapsed/Refractory Blood Cancers

Ascentage Pharma Group Inc. — PHASE1

TrialNOT YET RECRUITING
Aug 2025The Effects of Intra-articular and Peri-articular Platelet-rich Plasma (PRP) Injections ın Chronic Knee Osteoarthritis

Ankara City Hospital Bilkent — NA

TrialRECRUITING
Sep 2023Registry Platform Hematologic Malignancies (RUBIN) - Extension of Tumor Registry Lymphatic Neoplasms

iOMEDICO AG

TrialRECRUITING
Mar 2023Observational Study of Cardiac Arrhythmias During Treatment With BTK Inhibitors or Venetoclax

National Heart, Lung, and Blood Institute (NHLBI)

TrialRECRUITING
Jan 2023Implanted Loop Recorders for Detection and Management of Arrhythmia With Bruton Tyrosine Kinase Inhibitors

Northwell Health — NA

TrialRECRUITING
May 2020CAR-20/19-T Cells in Patients With Relapsed Refractory B Cell Malignancies

Medical College of Wisconsin — PHASE1, PHASE2

TrialRECRUITING
Feb 2019Study of Zanubrutinib, Obinutuzumab, and Venetoclax in Patients With Chronic Lymphocytic Leukemia (CLL) or Small Lymphocytic Leukemia (SLL)

Memorial Sloan Kettering Cancer Center — PHASE2

TrialRECRUITING
Jun 2017A Study of Nemtabrutinib (MK-1026) in Participants With Relapsed or Refractory Hematologic Malignancies (ARQ 531-101/MK-1026-001)

ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA) — PHASE1, PHASE2

TrialACTIVE NOT RECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Krystexxa

pegloticase· Horizon Therapeutics Ireland DAC■ Boxed Warning

indicated for the treatment of chronic gout in adult patients refractory to conventional therapy

No actively recruiting trials found for Chronic mast cell leukemia at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Chronic mast cell leukemia community →

Specialists

Showing 25 of 31View all specialists →
MF
Maryam Fouladi
COLUMBUS, OH
Specialist
PI on 7 active trials2 Chronic mast cell leukemia publications
CD
Catherine S Diefenbach
NEW YORK, NY
Specialist
PI on 4 active trials1 Chronic mast cell leukemia publication
NM
Neal Flomenberg, MD
PHILADELPHIA, PA
Specialist
PI on 5 active trials
RN
Ryotaro Nakamura
Duarte, California
Specialist

Rare Disease Specialist

PI on 6 active trials
DC
Dolores Grosso, DNP, CRNP
Specialist
PI on 4 active trials
RP
Rachael Easton, MD, Ph.D.
TROY, MI
Specialist
PI on 1 active trial
CM
Christine E Gruessner, M.D.
BETHESDA, MD
Specialist
PI on 2 active trials
TM
Thomas E. Witzig, MD
ROCHESTER, MN
Specialist
PI on 9 active trials
DM
David Miklos
CHICAGO, IL
Specialist
PI on 2 active trials
NR
Nilsa Ramirez
COLUMBUS, OH
Specialist
PI on 1 active trial16 Chronic mast cell leukemia publications
AW
Ann Woolfrey
SEATTLE, WA
Specialist
PI on 5 active trials
TM
Tom R. Fitch, M.D.
GLENDALE, AZ
Specialist
PI on 1 active trial
MM
Mary Ann Knovich, MD
CHARLOTTE, NC
Specialist
PI on 1 active trial
MM
Michael Heinrich, MD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

2 resources
Krystexxa(pegloticase)Horizon Therapeutics Ireland DAC

Ketalar

Par

Chronic Pain

Unverified — confirm before calling
copay card
Copay CardPatient Assistance
Accepting applications

Travel Grants

No travel grants are currently matched to Chronic mast cell leukemia.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Chronic mast cell leukemiaForum →

No community posts yet. Be the first to share your experience with Chronic mast cell leukemia.

Start the conversation →

Latest news about Chronic mast cell leukemia

Disease timeline:

New recruiting trial: CAR-20/19-T Cells in Patients With Relapsed Refractory B Cell Malignancies

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: Evaluation of Hypertension Management and Cardiovascular Adverse Event Prevention in Patients With B-cell Malignancies Undergoing Treatment With Bruton Tyrosine Kinase Inhibitors, the HALT Study

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: A Safety and Efficacy Study Evaluating CTX112 in Subjects With Relapsed or Refractory B-Cell Malignancies

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: A Study of AZD0486 Monotherapy or in Combination With Other Anti-Cancer Agents for Mature B-Cell Malignancies

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: Study of Zanubrutinib, Obinutuzumab, and Venetoclax in Patients With Chronic Lymphocytic Leukemia (CLL) or Small Lymphocytic Leukemia (SLL)

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: Implanted Loop Recorders for Detection and Management of Arrhythmia With Bruton Tyrosine Kinase Inhibitors

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: Observational Study of Cardiac Arrhythmias During Treatment With BTK Inhibitors or Venetoclax

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: Registry Platform Hematologic Malignancies (RUBIN) - Extension of Tumor Registry Lymphatic Neoplasms

A new clinical trial is recruiting patients for Chronic mast cell leukemia

New recruiting trial: The Effects of Intra-articular and Peri-articular Platelet-rich Plasma (PRP) Injections ın Chronic Knee Osteoarthritis

A new clinical trial is recruiting patients for Chronic mast cell leukemia

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which form of mast cell leukemia do I have, and how does that affect my treatment options?,Do I have the KIT D816V mutation, and does that change which drugs will work best for me?,Am I a candidate for avapritinib or midostaurin, and what side effects should I expect?,Should I consider a stem cell transplant, and what would that process involve?,Are there any clinical trials I should know about?,What triggers should I avoid to reduce the risk of a severe allergic reaction?,How often will I need bone marrow biopsies and blood tests to monitor the disease?

Common questions about Chronic mast cell leukemia

What is Chronic mast cell leukemia?

Chronic mast cell leukemia (also sometimes called chronic MCL) is a very rare and serious blood cancer that involves abnormal mast cells. Mast cells are a type of immune cell normally found in tissues throughout the body. They play an important role in allergic reactions and fighting infections. In chronic mast cell leukemia, these cells grow out of control and build up in the bone marrow, blood, and organs like the liver, spleen, and skin. Unlike the acute form of this disease, the chronic form tends to progress more slowly, but it is still considered a life-threatening condition. People wit

How is Chronic mast cell leukemia inherited?

Chronic mast cell leukemia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Chronic mast cell leukemia typically begin?

Typical onset of Chronic mast cell leukemia is adult. Age of onset can vary across affected individuals.

Which specialists treat Chronic mast cell leukemia?

25 specialists and care centers treating Chronic mast cell leukemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Chronic mast cell leukemia?

2 patient support programs are currently tracked on UniteRare for Chronic mast cell leukemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.