When Emory's Lysosomal and Peroxisomal Storage Disease Center was founded in 1993, Type I Gaucher disease was the first and only genetic disorder that could be treated effectively with enzyme replacement therapy (ERT). Since then, through the selfless participation of people living with genetic conditions in clinical trials and the hard work of scientists, doctors, coordinators, and researchers supported by grants and invested companies, a number of treatments treatment have become available clinically. Now, a variety of treatment regimes including chaperone therapies, enzyme replacement therapy, substrate inhibition therapy, and gene therapies are approved or currently under development for many genetic conditions. Beyond disease specific therapies, we also are seeking better answers to key natural history and symptoms questions in our research. Our current research projects include research on genetic conditions such as Achondroplasia, Angelman syndrome, Fabry disease, Fragile X syndrome, Gaucher disease, homocystinuria, Lysosomal acid lipase deficiency, the Mucopolysaccharidosis conditions, Niemann–Pick diseases, Pompe disease, Pantothenate kinase-associated neurodegeneration (PKAN), Phenylketonuria (PKU), and other lysosomal storage, neurological, and skeletal dysplasia conditions.
Interested in Participating in Genetic Clinical Trials
We are incredibly grateful to all the individuals who participate in the Emory GCTC research studies and clinical trials that bring more information and new treatments to the community. Contact us at 404-778-8518 or by using the form below to volunteer for a specific study or learn if there is a clinical trial or research for you. Want to learn more?