Areeg El-Gharbawy, MD, Research Projects

Areeg El-Gharbawy, MD, is interested in optimizing treatment for patients with inborn errors of metabolism, as well as studying the natural history of disorders of fatty acid oxidation (FAO), glycogen storage, and lysosomal storage disease. A recipient of the Emmanuel Shapira Award for expanding the clinical spectrum of late-onset Pompe disease, she continues to be interested in describing new genes and clinical findings as well as modifying and developing new therapies.

Dr. El-Gharbawy is principal investigator for a laboratory study of Acyl-CoA dehydrogenase and on three clinical trials involving lysosomal storage diseases:

  • A Phase 4, Open-label, Prospective Study in Patients with Pompe Disease to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale
  • MPS IV Clinical Surveillance Program (CSP)
  • A Multicenter, Multi-country, Post-marketing Active Surveillance Taliglucerase Alfa Registry in Patients with Gaucher Disease

Additionally, Dr. El-Gharbawy is co-investigator on multiple clinical trials related to the clinical treatment of energy deficiency disorders involving fatty acid and glycogen storage disorders including:

  • Dietary Therapy for Inherited Disorders of Mitochondrial FAO and Disorders of Carbohydrate Metabolism
  • An Open-label Phase 2 Study to Assess Safety and Clinical Effects of UX007 in Subjects with Long-chain FAO Disorders (LCFAODs)
  • A Phase 2 Randomized Controlled Double-blinded Study Comparing Triheptanoin and MCT Oil Supplementation in Patients with Long-chain FAO Disorders
  • Use of Glycerol Phenylbutyrate (Ravicti™) as a Chaperone to Stabilize Enzyme in Patients with MCAD Deficiency Due to the Common MCAD 985A>G (K304E) Mutation

Dr. El-Gharbawy is also co-investigator on other clinical trials involving other forms of inborn errors of metabolism: lysosomal storage disorders (Gaucher disease, Fabry disease), urea cycle disorders, hypophosphatasia, orotic aciduria, and phenylketonuria. She is a co-investigator on a sub-study entitled Physical and Functional Integrity of FAO and Mitochondrial Electron Transfer Chain After Disrupting Mitochondrial Trifunctional Protein. She also received the Promoting Academic Talent in the Health Sciences (PATHS) grant award (mentors: Gerard Vockley, MD, PhD, principal investigator, Robert Nicholls, PhD Yudong Wang, PhD, and Al-Walid A. Mohsen, PhD).