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Research

The research team, comprising Amarilis Sanchez-Valle, MD, Christopher Griffith, MD, and Judith Ranells, MD, focuses on various genetic disorders and metabolic conditions. Dr. Sanchez-Valle specializes in inborn errors of metabolism, with particular emphasis on Phenylketonuria, Fatty Acid Oxidation Disorders, and Urea Cycle Disorders. Dr. Griffith investigates lysosomal storage disorders, including Fabry, Pompe, and Gaucher diseases. Dr. Ranells concentrates on Rett Syndrome, exploring novel gene identification and associated phenotypes. Together, their work aims to advance understanding and treatment of these complex conditions.

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.

Christopher Griffith, MD

Dr. Christopher Griffith is focused on advancing research in rare metabolic disorders, specifically Fabry, Pompe, and Gaucher diseases. His current projects include:

  1. Sanofi Genzyme Rare Disease Registry: This multi-center, international longitudinal observational program tracks the natural history and outcomes of patients with Gaucher, Fabry, MPS I, and Pompe diseases. The registry aims to enhance understanding of these conditions and improve patient care.

  2. ST-920 Gene Therapy Study: A Phase I/II multicenter open-label trial assessing the safety and tolerability of ST-920, an AAV2/6 human alpha-galactosidase A gene therapy, in subjects with Fabry disease. This study seeks to evaluate the potential of gene therapy as a treatment option for this condition.

Judith Ranells, MD

Dr. Judith Ranells specializes in Rett Syndrome, focusing on the identification of novel genes and their associated phenotypes. She is currently the site Principal Investigator for a study investigating the efficacy of Trofinetide, a treatment for girls and women with Rett Syndrome. This randomized, double-blind, placebo-controlled parallel-group study aims to evaluate Trofinetide's potential benefits for patients, contributing to a deeper understanding of therapeutic options for this condition. Dr. Ranells’ work is pivotal in advancing knowledge and treatment for individuals affected by Rett Syndrome.