VEXAS Syndrome Overview

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Learn About VEXAS Syndrome

What is the definition of VEXAS Syndrome?
VEXAS syndrome is a severe inflammatory syndrome caused by a genetic mutation in bone marrow.
What are the symptoms of VEXAS Syndrome?
Symptoms of VEXAS syndrome usually occur between 45 and 80 years of age and may include recurrent fevers, inflammation of the blood vessels, fluid and infections in the lungs, skin and eye inflammation, deep vein clots, joint pain, infections of the cartilage of the ear and nose, anemia, and sensorineural hearing loss.
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What are the current treatments for VEXAS Syndrome?
There is currently no standard treatment for VEXAS syndrome. However, glucocorticoids have provided some symptom relief. Researchers are currently investigating bone marrow transplants and gene editing as possible treatments for VEXAS syndrome.
Who are the top VEXAS Syndrome Local Doctors?
Anthony A. Amato
Dr. Anthony A. Amato
Neurology
Dr. Anthony A. Amato
Neurology

Brigham And Womens Hospital

75 Francis St, 
Boston, MA 
 (2.1 mi)
617-732-8046
Languages Spoken:
English, Spanish
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Accepting New Patients
Offers Telehealth

Anthony Amato is a Neurologist in Boston, Massachusetts. Dr. Amato and is rated as a Distinguished provider by MediFind in the treatment of VEXAS Syndrome. His top areas of expertise are Inclusion Body Myositis, Myositis, Polymyositis, Thymectomy, and Gastrostomy. Dr. Amato is currently accepting new patients.

Dr. Courtney E. Mcilduff
Neurology
Dr. Courtney E. Mcilduff
Neurology

Harvard Medical Faculty Phys At Beth Israel Deaconess Med Ctr Inc

330 Brookline Ave, 
Boston, MA 
 (1.9 mi)
617-754-8612
Experience:
17+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Courtney Mcilduff is a Neurologist in Boston, Massachusetts. Dr. Mcilduff has been practicing medicine for over 17 years and is rated as an Experienced provider by MediFind in the treatment of VEXAS Syndrome. Her top areas of expertise are Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Peripheral Neuropathy, and Herpes Simplex Encephalitis. Dr. Mcilduff is currently accepting new patients.

 
 
 
 
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Dr. Arturo H. Diaz
Rheumatology
Dr. Arturo H. Diaz
Rheumatology

Harvard Medical Faculty Phys At Beth Israel Deaconess Med Ctr Inc

330 Brookline Ave, 
Boston, MA 
 (1.9 mi)
617-754-8612
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Arturo Diaz is a Rheumatologist in Boston, Massachusetts. Dr. Diaz and is rated as an Experienced provider by MediFind in the treatment of VEXAS Syndrome. His top areas of expertise are Systemic Sclerosis (SSc), Scleroma, Sarcoidosis, and Rheumatoid Arthritis (RA). Dr. Diaz is currently accepting new patients.

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What are the latest VEXAS Syndrome Clinical Trials?
A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects With VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
A Phase II Study of Allogeneic Hematopoietic Stem Cell Transplant for Subjects With VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Who is this study for: Patients with VEXAS syndrome
Enrollment Status: Recruiting
Publish Date: February 21, 2025
Intervention Type: Procedure, Drug, Radiation
Study Drugs: Post-Transplant Cyclophosphamide, Cyclophosphamide, Fludarabine, Busulfan, Sirolimus, Mycophenolate mofetil, Busulfan
Study Phase: Phase 2

Background: Allogeneic hematopoietic stem cell transplant involves taking blood stem cells from a donor and giving them to a recipient. The transplants are used to treat certain diseases and cancers. Researchers want to see if the transplant can treat VEXAS Syndrome.

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A Phase 1 Study of Pacritinib in Vacuoles, E1 Ubiqutin-activating Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome
A Phase 1 Study of Pacritinib in Vacuoles, E1 Ubiqutin-activating Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome
Enrollment Status: Recruiting
Publish Date: February 14, 2025
Intervention Type: Drug
Study Phase: Phase 1

Summary: VEXAS (vacuoles, E1 ubiqutin-activating enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described disorder with severe hematologic and rheumatologic manifestations caused by somatic variants in the ubiquitin- activating enzyme gene, UBA1, that is acquired in hematopoietic progenitor cells. Patients are often debilitated by autoinflammatory symptoms and there is currently no sta...

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