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Research Opportunities

The following studies and trials are enrolling patients with M-CM / MCAP or related conditions.

The SECURE-VA registry is collecting information about vascular anomalies patients that have had COVID-19 to better understand outcomes in this population. One of the categories of diagnosis in the registry is "Macrocephaly-CM (M-CM/MCAP)". Patients should ask their doctors to submit their de-identified information.

Alpelisib (a PI3K-alpha inhibitor) may be available on a compassionate use basis for patients outside of the United States with documentation of a PIK3CA mutation. See the entry on and see Novartis's Managed Access information. Treating physicians must apply for access. See also Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Alpelisib was approved by the United States FDA for severe PIK3CA-related overgrowth spectrum with the brand name Vijoice in April 2022.

Clinical trial recruiting: Study Assessing the Efficacy, Safety and PK of Alpelisib (BYL719) in Pediatric and Adult Patients With PIK3CA-related Overgrowth Spectrum

Observational study recruiting: Health-related Quality of Life, Symptom Severity, and Pain Among Patients With PIK3CA-related Overgrowth Spectrum: A Mixed-methods Observational Study

Research on megalencephaly conditions is being conducted by Dr. Ghayda Mirzaa at the Center for Integrative Brain Research at Seattle
Children's Research Institute. Contact the
research coordinator at for more information.

The donation of cerebrospinal fluid (CSF) or brain tissue can be banked at the University of Maryland Brain and Tissue Bank and made widely available to researchers. There is more information on our Brain, Tissue, and CSF Donation page.