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Niemann-Pick disease is a class of inherited lipid storage diseases. Niemann-Pick Type C disease is an autosomal recessive neurovisceral lipid storage disorder which leads to systemic and neurological abnormalities including ataxia, seizures, and loss of speech. Patients with the disease typically die as children. The biochemical hallmark of Niemann-Pick Type C cells is the abnormal accumulation of unesterified cholesterol in lysosomes, which results in the delayed homeostatic regulation of both uptake and esterification of low density lipoprotein (LDL) cholesterol.

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.

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.

The invention can be used to develop tests that are much more rapid than conventional tests for determining drug resistance. It relates to the discovery that a putative gene of Mycobacterium tuberculosis (MTb) with no previously identified function is responsible for the ability of the bacteria to activate a class of second line thioamide drugs used for MTb infections. The gene, termed "etaA", codes for the synthesis of a monooxygenase, the enzyme responsible for the oxidative activation of the drugs.

The disclosed invention provides materials and methods to treat granulocytopenia (low white cell count in the blood) which is characterized by a reduced number of granulocytes (relative) or an absence of granulocytes (absolute). This condition is commonly associated with cancer chemotherapy, but is seen less frequently in a number of conditions including the use of propylthiouracil, radiotherapy for marrow ablation for bone marrow transplantation, aplastic anemia, systemic lupus erythematosus, AIDS and a variety of other situations.

The identified technologies describe self-replicating infectious recombinant paramyxoviruses with one or more attenuating mutations, such as a separate variant polynucleotide encoding a P protein and a separate monocistronic polynucleotide encoding a V protein, or at least one temperature sensitive mutation and one non-temperature sensitive mutation. Compositions and methods for recovering, making and using the infectious, recombinant paramyxoviruses as described are also included (e.g. recombinant human parainfluenza virus type 2 (HPIV2)).

Available for licensing and commercial development is a newly discovered bacterium in the Acetobacteraceae family. This bacterium was isolated, characterized and grown from lymph nodes of a patient with chronic granulomatous disease (CGD), a rare genetic disorder that impairs the immune system.

Hepatitis E virus (HEV) is the cause of Hepatitis E, a liver disease that occurs primarily in developing countries due to fecal contaminated drinking water. Outbreaks of HEV infection have caused epidemics in Africa, Central and Southeast Asia and Mexico and cases of the disease have also been reported sporadically in more developed countries. Hepatitis E is most often overcome by a host’s natural defenses; however the disease is more severe in pregnant women, who exhibit a 20% mortality rate due to HEV infection.

Two chimpanzee mAbs specifically reacted with light chain of the botulinum neurotoxin A and neutralize the toxin in the mouse model. They can be used for emergency prophylaxis and treatment of either naturally acquired or terrorist associated botulism. Since the sequence of chimpanzee immune globulin is virtually identical to that of humans, the MAbs are not expected to have problems in repeated administration as equine antibodies. They can also be used for rapid diagnosis of botulinum neurotoxin A.