Guillaume Canaud, MD, PhD, of the Paris Descartes University, explains why it is important to regularly measure objective outcomes in persons with PiK3CA-related overgrowth syndrome (PROS).
PROS is a group of rare congenital disorders that lead to the overgrowth of parts of the body. PROS is caused by gain of function mutations in the PIK3CA gene. Specific disorders under the umbrella of PROS include fibroadipose hyperplasia, hemihyperplasia multiple lipomatosis (HHML), CLOVES syndrome, macrodactyly, fibroadipose infiltrating lipomatosis, megalencephaly-capillary malformation (MCAP), and dysplastic megalencephaly (DMEG).
Dr. Canaud was involved the clinical studies that led to the accelerated approval of alpelisib by the FDA. However, continued approval will require additional data, including a placebo-controlled clinical study and more real-world evidence. The latter is important since the large variance of the PROS conditions means the best way to obtain data is for clinicians who are treating those patients to regularly conduct objective outcome measures (i.e., MRI scans, pain measurements, quality of life, etc) to help determine if a patient is improving with treatment but also to assist in the collection of data moving forward to better understand these rare conditions.
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