Gene Therapy for Inherited Metabolic Disorders Program Research Overview



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Current research projects in the Gene Therapy for Inherited Metabolic Disorders Program are focused on the following conditions:


Kiran Musunuru, MD, PhD, MPH, ML, and Rebecca Ahrens-Nicklas, MD, PhD, are developing a program focused on developing liver-directed gene editing in inborn errors of metabolism. The team is prioritizing disorders where 1) targeting the liver is predicted to be therapeutic, 2) there are validated disease biomarkers, and 3) there is a significant population of patients at CHOP with a common editing-amenable variant.

Their lead program employs base editing to correct common mutations associated with phenylketonuria, a disorder of amino acid metabolism associated with neurologic disease. The researchers have successfully corrected the biochemical defect in an animal model and are planning IND-enabling studies.

Multiple Sulfatase Deficiency

Laura Adang, MD, PhD, MSTR, and Rebecca Ahrens-Nicklas, MD, PhD, lead an international natural history study and biomarker validation effort to promote clinical trial readiness for multiple sulfatase deficiency (MSD).

In parallel, Stefano Rivella, PhD, and Dr. Ahrens-Nicklas have developed a preclinical ex vivo lentiviral gene therapy program for MSD, leveraging the novel lentiviral vectors Dr. Rivella has developed that are optimized for both safety and efficacy.