Gene Therapy - New Hope for Treating Niemann-Pick Disease Type C1

Highlights: - Niemann- Pick disease is a rare and fatal lipid storage disorder which occurs due to the deficiency of acid sphingomyelinase enzyme. - Accumulation of cell wastes like lipids and cholesterol due to faulty NPC1 gene is the main cause of the disease. - Combining adeno-associated virus serotype 9 (AAV9) and VTS-270 drug can help in correcting the faulty gene. Niemann-Pick disease is a rare and fatal disorder that affects the brain and spinal cord and has no cure. The disease usually occurs due to a faulty housekeeping gene which fails to remove cell waste like lipids and cholesterol. A research team from the National institutes of Health (NIH) has recently demonstrated gene therapy which could be a best method for correcting the faulty gene in Niemann-Pick disease, type C1(NPC1). Inserting a functional copy of NPC1 gene into the diseased mice can lower NPC1 symptoms. The research study led by NIH's National Human Genome Research Institute(NHGRI) and Eunice Kennedy Shriver National Institute of Child Health and Human Development was published in the journal Human Molecular Genetics. Niemann-Pick disease may cause progressive deterioration of intellectual and motor functions due to the accumulation of waste in the spleen, liver and brain and people die usually in their teens. The study mainly focused on mice bred with faulty NPC1 gene to Niemann-Pick disease, type C1. Scientists used a non-disease-causing virus called adeno-associated virus serotype 9(AAV9) to transfer functioning NPC1 into the cells. The virus serotype containing the NPC1 gene was able to successfully cross the blood-brain barrier and reach the brain cells. And the normal NPC1 gene can be made to the functional NPC1 protein to correct faulty gene. A single injection was able to produce improvements in motor coordination, weight gain and longevity than those in gene therapy. Effect of the gene therapy was equal to that of the drug called VTS-270 which can be able to evaluate preclinical and clinical studies at various labs. The research team is now investigating combination of VTS-270 along with gene therapy to improve the results. William J. Pavan, Ph.D., senior scientist in the NHGRI Genetic Disease Research Branch said "We're very encouraged by this preliminary work," "The gene therapy is treating the root of the problem, the defective gene." "The gene therapy is treating the root of the problem, the defective gene." Charles P. Venditti, M.D., Ph.D., senior investigator in the NHGRI Medical Genomics and Metabolic Genetics Branch said that "Our work in NPC1 mice may help lead to human clinical trials and eventually FDA approval for gene therapy as a treatment for NPC1 disease." "For NPC1 patients, gene therapy could halt progression of the disease, improve the quality of their lives and, hopefully, increase the patient's life span." he added.

Gene Therapy - New Hope for Treating Niemann-Pick Disease Type C1

Niemann-Pick disease can be treated by correcting the faulty NPC1 gene using gene therapy.