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Research Opportunities

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

Alpelisib (a PI3K-alpha inhibitor) may be available on a compassionate use basis for patients with documentation of a PIK3CA mutation. See the entry on clinicaltrials.gov and see Novartis's Managed Access information. Treating physicians must apply for access. See also Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Research on megalencephaly conditions is being conducted by Dr. Ghayda Mirzaa at the Center for Integrative Brain Research at Seattle
Children's Research Institute. If you're interested, please contact the
research coordinator at brainresearch@seattlechildrens.org 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