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Dr. Sanchez

Amarilis Sanchez-Valle, MD

Dr. Amarilis Sanchez-Valle is currently serving as the site Principal Investigator for several significant studies focusing on metabolic disorders. These include:

  1. BMN 307 Study: A Phase 1/2 open-label, dose escalation trial assessing the safety and efficacy of gene transfer therapy using an adeno-associated virus vector to deliver human phenylalanine hydroxylase for patients with Phenylketonuria (PKU) and elevated plasma phenylalanine levels.

  2. Long-Chain Fatty Acid Oxidation Disorders Program: A disease monitoring initiative aimed at enhancing clinical oversight of patients with long-chain fatty acid oxidation disorders.

  3. Pegvaliase Study: A Phase 3 multi-center trial evaluating the safety and efficacy of subcutaneous Pegvaliase injections in adolescents (ages 12-17) with PKU, employing an open-label, randomized two-arm design comparing active treatment to a diet-only control.

  4. Hypophosphatasia Registry: An observational, longitudinal registry aimed at collecting long-term data on patients with hypophosphatasia to better understand the disease and its impacts.

  5. Natural History of PKU Study: A prospective investigation into the natural history of adults with PKU caused by phenylalanine hydroxylase deficiency, aimed at characterizing the long-term effects of the disorder.