Overview
Desmoid tumors are rare, locally aggressive soft tissue tumors arising from musculoaponeurotic structures. They do not metastasize but can invade surrounding tissues, causing pain, limited mobility, and organ compression. Approximately 5-10% are associated with familial adenomatous polyposis (Gardner syndrome). In November 2023, nirogacestat (Ogsiveo) became the first and only FDA-approved systemic therapy for desmoid tumors, approved based on the DeFi Phase 3 trial (NEJM 2023;388:898-912).
Key symptoms:
A firm, painless or painful lump under the skin or deep in the bodySwelling in the abdomen, arm, leg, or chestPersistent or worsening pain in the affected areaFeeling of pressure or tightness near the tumorDifficulty moving a limb or joint if the tumor is near muscles or tendonsBowel problems such as constipation, diarrhea, or blockage if the tumor is in the abdomenNumbness or tingling if the tumor presses on a nerveUnexplained weight loss in some casesFatigue related to chronic pain or treatment side effectsVisible deformity or asymmetry in the affected body area
Clinical phenotype terms (20)— hover any for plain English
Sporadic or associated with FAP (familial adenomatous polyposis, APC gene); ~5-10% FAP-associated
Any age, peak 25-35 years
FDA & Trial Timeline
10 eventsSpringWorks Therapeutics, Inc. — PHASE4
SpringWorks Therapeutics, Inc. — PHASE2
Istituto Ortopedico Rizzoli
Fondazione IRCCS Istituto Nazionale dei Tumori, Milano
M.D. Anderson Cancer Center — PHASE2
Dana-Farber Cancer Institute — NA
Blokhin's Russian Cancer Research Center — NA
University Hospital, Strasbourg, France — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableOgsiveo
Adult patients with progressing desmoid tumors who require systemic treatment. First and only FDA-approved treatment for desmoid tumors. Approved based on the DeFi Phase 3 randomized placebo-controlle…
Adult patients with progressing desmoid tumors who require systemic treatment. First and only FDA-approved treatment for desmoid tumors. Approved based on the DeFi Phase 3 randomized placebo-controlled trial (NEJM 2023;388:898-912): 41% ORR vs 8% placebo, significant improvement in progression-free survival, pain, and quality of life.
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersWashington University School of Medicine
📍 St Louis, Missouri
👤 Meagan A Jacoby, M.D., Ph.D.
👤 Janssen Research & Development, LLC Clinical Trial
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Desmoid tumor.
Community
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1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Should we start treatment right away, or is watchful waiting appropriate for my tumor?,Should I be tested for the APC gene mutation, and should my family members be tested too?,What imaging tests will I need, and how often should I be monitored?,What are the chances my tumor will come back after surgery, and does that change the treatment plan?,Am I a candidate for nirogacestat or other newer targeted therapies?,Are there clinical trials I should consider?,How will treatment affect my ability to work, exercise, or have children?
Common questions about Desmoid tumor
What is Desmoid tumor?
Desmoid tumors are rare, locally aggressive soft tissue tumors arising from musculoaponeurotic structures. They do not metastasize but can invade surrounding tissues, causing pain, limited mobility, and organ compression. Approximately 5-10% are associated with familial adenomatous polyposis (Gardner syndrome). In November 2023, nirogacestat (Ogsiveo) became the first and only FDA-approved systemic therapy for desmoid tumors, approved based on the DeFi Phase 3 trial (NEJM 2023;388:898-912).
How is Desmoid tumor inherited?
Desmoid tumor follows a sporadic or associated with fap (familial adenomatous polyposis, apc gene); ~5-10% fap-associated inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Desmoid tumor typically begin?
Typical onset of Desmoid tumor is any age, peak 25-35 years. Age of onset can vary across affected individuals.
Are there clinical trials for Desmoid tumor?
Yes — 18 recruiting clinical trials are currently listed for Desmoid tumor on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Desmoid tumor?
25 specialists and care centers treating Desmoid tumor are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Desmoid tumor?
1 patient support program are currently tracked on UniteRare for Desmoid tumor. See the treatments and support programs sections for copay assistance, eligibility, and contact details.