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Gene therapy for ATP1A3-Related Neurologic Disorders
Unmet Need Alternating Hemiplegia of Childhood (AHC) is a rare neurologic disorder affecting children, causing episodes of temporary paralysis, dystonia, and severe behavioral issues, with prevalence estimates ranging from 1 in 1 million to 1…
Splice switching oligonucleotides to restore PHKG2 expression in glycogen storage disease IX
Unmet Need Glycogen Storage Disease IX (GSD IX) is a rare inherited disorder primarily caused by mutations in the PHKG2 gene, leading to significant deficiencies in glycogen metabolism. Patients typically present with a variety of…
Novel Method for Treating Steatosis-Associated Diseases
Unmet Need Steatosis-associated diseases are marked by the infiltration of the liver with fatty acids. Liver steatosis occurs in nonalcoholic fatty liver disease (NAFLD) and nonalcoholic steatohepatitis (NASH), as well as rare diseases such as…
Method for immune tolerance induction in patients receiving enzyme replacement therapy for a variety of metabolic disorders
Unmet Need Genetically based metabolic disorders affect 1 in 2500 births globally and many of these disorders result in an enzyme deficiency. In most cases, a single enzyme is not produced by the body at…
Gene therapy for long-term treatment of Pompe disease
Unmet Need Pompe disease is a rare heritable disorder impacting heart and skeletal muscle function with an estimated incidence rate of 1 in 40,000 births in the US. Of these affected births, a third take…
A tool to facilitate high affinity binding between beta-Arrestin and GPCR
Unmet Need Beta-arrestins are a highly conserved family of cytosolic adaptor proteins that contribute to a multitude of physiological functions through a canonical interaction with various G protein-coupled receptors (GPCRs). Through agonist binding to GPCRs,…
Muscle mass influences upon response to therapy
Duke University is seeking a company interested in commercializing a drug treatment method for enhancing lysosomal storage disease therapy by modulating cell surface receptor expression. Lysosmal storage diseases (LSDs), including Pompe disease, Gaucher disease, Farby…
A method of screening and monitoring glycogen storage diseases with a single biomarker
Unmet Need Glycogen storage disease type I (GSD I) is an autosomal recessive inherited disorder of carbohydrate metabolism associated with life threatening fasting hypoglycemia, and significant morbidity and mortality. Currently, the standard of care therapy…
Method for treatment of glycogen storage disease type III by AAV vector containing a bacterial glycogen debranching enzyme
Value Proposition Glycogen storage disease (GSDIII, Cori Disease) is due to a genetic mutation in the glycogen debranching enzyme (GDE), and can cause uncontrolled glycogen buildup in liver, muscles, and other body compartments. There is…