New stem cell gene, enzyme replacement treatment for Tay-Sachs disease

Nov 10 2010

StemCellRegenMed, Inc. announces that a new stem cell gene and enzyme replacement treatment has been performed on a fourteen month old child with Tay-Sachs disease on November 2, 2010. Tay-Sachs is a devastating disease that afflicts children primarily of parents of Jewish heritage and in very rare cases families of Eastern European background and the Cajun region in the U.S.A. The children appear normal at birth but about six months of age they lose their ability to turn over both ways; raise their heads or crawl. They become hypotonic and even have difficulty in swallowing and sucking. Between 15-18 months they may become blind and lose their hearing. Death may occur by two years of age.

The procedure was performed at a major hospital in Lima, Peru under the supervision of Burton Feinerman, M.D. trained at the Mayo Clinic in Rochester, MN and Javier Paino, M.D., Ph.D neurosurgeon and scientist trained at Mt. Sinai Hospital, N.Y. and George Washington University School of Medicine.

The therapy consisted of administration of neuron stem cells mixed with brain derived neurotrophic factor, glial derived neurotrophic factor, nerve growth factor into the central nervous system via the spinal canal to the brain and spinal cord. This procedure was repeated again in two days.

Following this an agent was started orally and given twice daily to increase the levels of an enzyme B-hexosaminidase A. This enzyme is absent or very low in patients with Tay-Sachs leading to a defect in glycolysis that results in an abnormal accumulation of fatty substances in the brain and spinal cord causing damage to the nervous system, hearing and visual centers.

The baby, Aspen Brown, has tolerated all aspects of the treatment well.  Both parents have noted movement of the head and neck that had been completely restricted; the child follows moving objects; muscle tone has improved; grasp reflex seems better all of which occurred in two to four days after treatment. Plans are now being developed to introduce the Hexa A gene with a vector or possibly work with developing a induced silenced complex RNA.