Modulating Autophagy as a Treatment for Lysosomal Storage Diseases

Researchers at NIAMS have developed a technology for treatment of lysosomal storage diseases by inhibition of autophagy. Pompe disease is an example of a genetic lysosomal storage disease caused by a reduction or absence of acid alpha-glucosidase (GAA). Patients with Pompe disease have a lysosomal buildup of glycogen in cardiac and skeletal muscle cells and severe cardiomyopathy and skeletal muscle myopathy. Treatment of Pompe disease by GAA enzyme replacement therapy is quite ineffective for the skeletal muscle myopathy.

Identification of a Novel Parvovirus for Vaccine Development and Use as a Diagnostic Tool

This technology includes a procedure for novel virus identification in a variety of human specimens by solexa high-throughput sequencing, which allows for the screening a large number of clinical specimens for novel virus discovery in a highly efficient and relatively economical method. By using this technique, we have successfully identified a novel parvovirus from samples of seronegative hepatitis patients.

Generation of AAVS1 and C13 “Safe Harbor” Transcription Activator-life Effector Nucleases (TALENs) for Drug Screening or Gene Therapy Development

This technology includes AAVS1 and C13 “safe harbor” transcription activator-life effector nucleases (TALENs) for drug screening or gene therapy applications. TALENs are engineered sequence-specific DNA endonucleases that can significantly enhance genome-editing efficiency by >100-1000 folds. “Safe harbor” such as AAVS1 safe harbor and C13 safe harbor is genome locus that allows robust and persistent transgene expression with no or minimal interference of endogenous gene expression and cell properties.

Methods to Produce Very Long Chain Fatty Acids (VLCFA) for Use as Nutritional Formulas and as Therapeutics for Disease

This technology includes a new method to prepare very long chain fatty acids (VLCFA), which does not use the previously reported toxic mercury amalgam, for use as nutritional supplements, and as therapeutics for various diseases. The key coupling step involves an organocopper mediated coupling of the Grignard regent derived from the bromo alkyl tetraene with a bromoalkyl containing a protected alcohol. After the coupling the alcohol Is deprotected and oxidized to prepare the very long fatty acid. The synthetic approach is flexible and can be used to prepare the other VLCFA compounds.

Anti-sense Therapy Against ApoC-III as a Treatment for High Cholesterol

This technology includes a new class of synthetic peptides that activate Lipoprotein Lipase (LPL), a key plasma enzyme that lowers triglycerides, by displacing apoC-111, a potent inhibitor of LPL. ApoC-11 is a known activator of LPL, whereas ApoC-111 inhibits LPL and raises triglycerides either directly by blocking lipolysis and or by preventing hepatic uptake of lipoproteins. Both apoC-II and apoC-III have to bind to the surface of a lipoprotein particle to mediate their effects.

Novel ApoC-11 Mimetic Peptides That Activate LPL for the Treatment of ApoC-11 Deficiency and Hypertriglyceridemia

This technology includes a new class of synthetic peptides that activate Lipoprotein Lipase (LPL), a key plasma enzyme that lowers triglycerides. Mutations in apoC-II is a genetic cause of severe hypertriglyceridemia, which can lead to cardiovascular disease and pancreatitis.

Infectious Clone of Human Parvovirus B19 and Methods of Use

This technology described in this patent application relates the first reported infectious human parvovirus B19 clone, methods of cloning the parvovirus B19 genome as well as other viral genomes that have secondary DNA structures that are unstable in bacterial cells. The infectious clone and methods of producing the same would be useful in producing infectious virus, which can in turn be used, among other things, to identify and develop therapeutic agents for treatment and/or prevention of human parvovirus B19 infections. The infectious parvovirus B19 clone is also available for licensing.

ApoA-1 Mimetic Peptides Promoting Lipid Efflux from Cells for Treatment of Vascular Disorders

This invention involves ApoA-1 mimetic peptides with multiple amphipathic alpha-helical domains that promote lipid efflux from cells and are useful in the treatment and prevention of dyslipidemic, inflammatory and vascular disorders. IND-enabling studies for one of the peptides, named Fx-5A, are completed in preparation for an IND filing at the FDA, to be followed by a Phase I clinical trial planned for 2017.

Chromatin Insulator Protecting Expressed Genes of Interest for Human Gene Therapy or Other Mammalian Transgenic Systems

The technology provides the isolation of a functional DNA sequence comprising a chromatin insulating element from a vertebrate system and provides the first employment of the pure insulator element as a functional insulator in mammalian cells. The technology further relates to a method for insulating the expression of a gene from the activity of cis-acting regulatory sequences in eukaryotic chromatin.
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