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Showing 7 matches for the following: Inventor: "Kishnani, Priya" ×
Methods of treatment in diseases treated with therapeutic proteins
Unmet Need The challenge of antibody formation against protein replacement therapies (PRT) significantly impacts the efficacy of treatments as patients often develop anti-drug antibodies, particularly those who are CRIM-negative, leading to adverse outcomes and limiting…
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…
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…
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…
Test of Verbal Expression and Reasoning (TOVER)
The TOVER is non-standardized assessment of expressive language in context and verbal reasoning. The 64 item test was specifically designed to assess language function in children and adults with Down syndrome across a broad range…