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 May 2024
Clinical
Disease Class
Rare neurological diseases
Rare vascular disease
Body Systems
Cardiovascular / Circulatory
Nervous / Sensory
Organs
Blood vessels (veins, arteries)
Brain
Spinal cord
Genes
CCM2
CCM3 (PDCD10)
KRIT1 (CCM1)
MEKK3
PIK3CA
Type of Inheritance
Autosomal dominant
De novo
Disease Mechanism(s)
mTOR pathways dysregulation
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)
Incidence
1001-10000
Prevalence
10000+
Populations and/or ancestry with higher prevalence
There are founder mutations in descendants of the original Spanish settlers of New Mexico/El Paso and northern Mexico, descendants of a group of rural white families living in the American South in the 1700s, Ashkenazi Jews in the US, and a group of families in Sardinia.
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
scoliosis / spinal curvature
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
Alternative treatments (eg. nutritional supplements)
· Vitamin D
Drugs used off-label
· alpelisib
Other
· atorvastatin, propranolol (both are in trials)
Organizational & Research
Cell Lines
iPSCs
Organoids
Cell Lines, location
NIH
University of California San Diego (UCSD)
Cell Lines, share
Unknown
Disease Model
C. elegans
Mouse
Zebrafish
Disease Model, location
Centenary Institute
Columbia University
Duke University
IFOM Paris
Sorbonne Université
Texas Tech University (TTU)
University of California San Diego (UCSD)
University of Michigan
University of Pennsylvania (PENN)
University of Potsdam
University of Rochester
University of South Florida (USF)
University of Toronto
University of Utah
University of Virginia (UVA)
Yale University Hospital
Disease Model, share
Yes
Clinical Trial Role
Meeting with regulators
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Study protocol design, review
Biobank
Texas Heart Institute
Center of Excellence
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
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
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
In the process of creating diagnostic guidelines
Clinical/Treatment Guidelines
Yes
Organizational Roles
Executive Director
Patient Engagement Manager/Director
Research/Scientific Director
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
Europe
North America
Oceania
South America
International Partners
Europe
North America
South America