Generation of Anti-TAT FXN Polyclonal and Monoclonal Antibodies to TAT Domain for Use in Quantitating or Detecting TATFrataxin (TAT-FXN) and Analogs

This technology includes a strategy to generate antibodies of rabbit origin, both polyclonal and monoclonal, which have strong affinity to the TAT sequence and which enable specific immunocapture or immunodetection of TAT containing frataxin and analogs for quantitative or qualitative assays. In addition, antibodies that react with the FXN region have also been generated with this strategy. The HIV virus encoded a translational activator protein containing a 12 amino acid domain which permits transmembrane delivery of any therapeutic protein containing the sequence.

Preparation of Benzene-1,4-disulfonamide Derivatives Useful as Therapeutic TRPML1 Receptor Modulators for the Treatment of Lysosomal Dysfunction and Membrane Repair Disorders

This technology includes a series of novel benzene-1,4-disulfonamides that activate TRPML1 receptor. The TRPML1 receptor is a lysosomal Ca2+ channel that has been shown to be involved in controlling lysosome functions, among then the maintenance of the integrity of the plasma membrane and the modulation of autophagosome-lysosome fusion. The improved ability of the receptor to deliver Ca2+ ions to the cytosol had been correlated with its capacity to modulate autophagy and lysosome exocytosis.

Compounds for Niemann Pick C and Other Lysosomal Storage Disorders

This technology includes compounds that improve endoplasmic reticulum-lysosomal trafficking and normalizes the Niemann-Pick type C (NPC) phenotype in assays using NPC1 patient cells, which can be used for the treatment of NPC, other lysosomal storage disorders, and potentially other neurodegenerative disorders. NPC is a rare neurodegenerative lipidosis caused by mutations in NPC1 or NPC2 genes, and characterized by the accumulation of cholesterol and glycolipids in the late endosomes and lysosomes. Currently there is no FDA-approved treatment for this devastating neurodegenerative disease.

Treatment of primary hyperoxalurias with small molecule lactate dehydrogenase inhibitors such as WO2018005807A1

This technology includes the use of novel lactate dehydrogenase (LDH) inhibitors, including WO2018005807A1, for the treatment of primary hyperoxalurias (PHs). PHs are rare autosomal recessive disorders caused by overproduction of oxalate, leading to recurrent calcium oxalate kidney stone disease, and in some cases end-stage renal disease. One potential strategy to treat PHs is to reduce the production of oxalate by diminishing the activity of LDH, the proposed key enzyme responsible for converting glyoxylate to oxalate.

Novel Codon-Optimized MUT Gene Therapeutic for Methylmalonic Acidemia (MMA)

Methylmalonic Acidemia (MMA) is a metabolic disorder characterized by increased acidity in the blood and tissues due to toxic accumulation of protein and fat by-products resulting in seizures, strokes, and chronic kidney failure. A significant portion of MMA cases stem from a deficiency in a key mitochondrial enzyme, methylmalonyl-CoA mutase (MUT), required to break down amino acids and lipids. Currently, there are no treatments for MMA and the disease is managed primarily with dietary restriction of amino acid precursors and liver-kidney transplantation in severe cases.

Fibroblast Cell Lines (with L444P/RecNci1 Genotype) for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines to be used to study the defects in GBA1 gene and protein and to screen small molecules for involvement in Gaucher disease. Glucocerebrosidase (GBA1 or GCase or beta-glucosidase) is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency or malfunction of GBA1 leads to the accumulation of insoluble glucocerebrosides in tissues, which is a major symptom of Gaucher disease.

Bone Marrow Mesenchymal Stem Cell (BMSC)-Derived Exosomes for the Treatment of Glaucoma

Glaucoma is one of the world’s leading causes of irreversible blindness. There is no cure and vision lost from glaucoma cannot be restored. Glaucoma is associated with fluid build-up in the eye resulting in an increased intraocular pressure (IOP). The pressure may cause damage to the optic nerve and lead to progressive degeneration of retinal ganglion cells (RGC) and vision loss. Currently, available treatments for glaucoma delay progression by reducing IOP, but no therapies exist to directly protect RGC from degradation and loss. 

Methods and Compositions for Treating Genetically Linked Diseases of the Eye

X-linked retinoschisis (XLRS) is an inherited, monogenetic ocular disease caused by mutations in the retinoschisin (RS1) gene, resulting in the development of cystic cavities throughout the retina and leading to juvenile macular degeneration. Approximately 1:15,000 males in the US are affected, classifying the condition as an orphan indication. 

3D Vascularized Human Ocular Tissue for Cell Therapy and Drug Discovery

Degeneration of retinal tissues occurs in many ocular disorders resulting in the loss of vision. Dysfunction and/or loss of Retinal Pigment Epithelium Cells (RPE) and disruption of the associated blood retinal barrier (BRB) tissue structures are linked with many ocular diseases and conditions including: age-related macular degeneration (AMD), Best disease, and retinitis pigmentosa. Engineered tissue structures that are able to replicate the function of lost BRB structures may restore lost vision and provide insight into new treatments and mechanisms of the underlying conditions. 

Method for Reproducible Differentiation of Clinical Grade Retinal Pigment Epithelium Cells

The retinal pigment epithelium (RPE) is a cell monolayer with specialized functions crucial to maintaining the metabolic environment and chemistry of the sub-retinal and choroidal layers in the eye. Damage or disease causing RPE cell loss leads to progressive photoreceptor damage and impaired vision. Loss of RPE is observed in many of the most prevalent cases of vision loss, including age related macular degeneration (AMD) and Best disease.

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