Alliance to Cure Cavernous Malformation (formerly Angioma Alliance)
Cycle 2
Cavernous angioma, cavernoma, and cerebral cavernous malformation (CCM) are synonyms for mulberry-shaped abnormal blood vessels with thin, leaky walls. Cavernous malformations are commonly found in the brain or spinal cord. The most common first symptom is seizure, followed by hemorrhage and neurological deficits like blurred vision and weakness in limbs.
Last updated 04/30/2025
Clinical
Disease Class
Neurological diseases
Vascular disease
Body Systems
Cardiovascular / Circulatory
Nervous / Sensory
Organs
Blood vessels (veins, arteries)
Brain
Spinal cord
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
CCM2
CCM3 (PDCD10)
KRIT1 (CCM1)
contributory_genes
MEKK3
PIK3CA
Type of Inheritance
Autosomal dominant
Newborn Screening
No
Disease Mechanism(s)
Abnormal cell proliferation
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Elderly (age 65+)
Infancy (age 0-1)
Middle childhood (6-11)
Average Age at Diagnosis
Adulthood (age 18-64)
Life Expectancy
Elderly (age 65+)
Affected Sex(es)
Female
Intersex
Male
National Prevalence
10000+
Global Prevalence
10000+
National Incidence
1001-10000
Global Incidence
1001-10000
Populations and/or ancestry with higher prevalence
Founder mutations exist in the Hispanic population of New Mexico and the greater Southwest, including Chihuahua/Sonora, among Ashkenazi Jews, and among a geographically dispersed group who can trace their heritage to the Southern region of Colonial America.
Symptoms / Phenotypes
attention disorders / ADHD
balance problems
behavioral changes
facial droop / unilateral facial palsy
fatigue
headaches / migraines
hearing loss / hearing impairment
hemorrhage/bleeding
muscle weakness
seizures / epilepsy
speech problems / apraxia
tinnitus
vasculitis
vision problems
Biomarkers
Diagnostic
· Investigative: various blood inflammatory markers
Monitoring
· MRI qualitative susceptibility mapping (submitted for FDA qualification)
Prognostic
· Investigative: various blood inflammatory markers
Existing Therapies
Drugs used off-label
FDA-Approved for Symptom Relief
· anti-epilepsy meds
Organizational & Research
Cell Lines
iPSCs
Organoids
Cell Lines, Institution
NIH
University of California San Diego (UCSD)
University of Cincinnati
University of North Carolina (UNC)
Cell Lines, Involvement
Consulted
Funded
Cell Lines, share
Unsure
Disease Model
C. elegans
Mouse
Organoids
Zebrafish
Disease Model, Involvement
Consulted
Funded
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Data sharing
Meeting with regulators
Outcome measures, development
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study material design, review (not protocol)
Study protocol design, review
Biobank, Institution
Texas Heart Institute
Biobank, Involvement
Designed
Funded
Own
Center of Excellence, Institution
Ascension St. John's
Baptist Health
Barrow Neurological Institute
Beth Israel Deaconess Medical Center
Boston Children's Hospital
Cincinnati Children's Hospital
Duke University
Lurie Childrens Hospital of Chicago
Mayo Clinic
Stanford University
Texas Childrens Hospital
University of California San Francisco (UCSF)
University of California, Los Angeles (UCLA)
University of Chicago
University of Miami
University of New Mexico
University of Pennsylvania (PENN)
University of Virginia (UVA)
University of Washington
Center of Excellence, Involvement
Endorsed/Certified/Accredited
Registry
Yes, we have a registry that we created
Data Collected, Registry
Clinical data
Genetic data
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
Ordinal Data
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Electronic health records/electronic medical records
Genetic data
Imaging data
Medication usage
Patient-reported data
Prospective data
Retrospective data
Platform, Natural History Study
REDCap
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
We use an ICD-10 code capturing the family of diseases to which our disease belongs
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have published formal guidelines in a peer-reviewed journal
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
Yes we have a Research Roadmap, and will share policies
International Partners
Europe
North America
South America