Alpelisib in PIK3CA-related Overgrowth Syndrome
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Description
The purpose of this study is to find out if alpelisib (BYL719; the "study drug"), is safe and effective (can help) people who have PIK3CA-related overgrowth spectrum (PROS) disease.
Eligibility and criteria
What to expect
Participation will last for up to 5 years. All participants enrolled in January 2025 or later will receive the study drug (no placebo). Study visits include the following assessments: blood draws, ECGs, Echocardiograms, tissue collection (if biopsy is performed as standard of care), whole body MRIs, x-rays, photographs of lesions, lung function tests, walk tests, completion of questionnaires and diaries, and some genetic testing (to confirm mutation status). Reimbursement for travel may be provided.
Related specialties
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