...subjects already taking their medication at one of these dose levels will either transition from chemical-grade dC/dT or dCMP/dTMP to the same dose of MT1621, or continue use of MT1621 at their current dose. Subjects who were previously taking chemical-grade dC/dT, dCMP/dTMP, or MT1621 at a dose other than one of these dose levels will be transitioned to a protocol-specified dose of MT1621, whichever is closest to the subjects' previous dose of chemical-grade dC/dT, chemical-grade dCMP/dTMP, or MT1621. The dose may be reduced for tolerability reasons

"The current survey provides an important benchmark. Its replication at appropriate intervals will assist in tracking changes that may accompany increased popularity of exome testing, more rigorous diagnostic criteria, increased patient reported outcome activity, and trials for promising therapies."

Among the key findings were that all treated patients were alive, and among these, the majority (94.7%) had either improved or stabilized responses. Several patients showed remarkable response to treatment: three patients regained the ability to walk while one patient gained the ability to walk for the first time; one patient who had been on continuous ventilation support prior to treatment stopped all respiratory support; three out of eight patients who were on feeding tubes at the start of the study had their feeding tubes removed.

Dr. Michio Hirano specializes in neurology and neuromuscular medicine, he diagnoses and treats disorders of the brain, spinal cord, peripheral nerves, muscles, and the involuntary nervous system that controls the heart, lungs and other organs. This video discusses studies measured for results to treat TK2 seizures, epilepsy, multiple sclerosis, sleep disorders and mainly neuromuscular diseases. 

"There are 30 different genes that can cause these conditions, which may appear anywhere from infancy through adulthood. Symptoms vary depending on the form of the disease but typically involve muscle weakness. Developmental delays and difficulty eating and breathing may also occur as the diseases advance. Until recently, there were no disease-modifying treatments for these conditions. Now, however, a drug therapy offers hope for at least one type of MDDS."

When mitochondria cannot convert food and oxygen into life-sustaining energy, cell injury and even cell death follow. When this process is repeated throughout the body, organ systems begin to fail and even stop functioning.

A 12-year-old patient with mitochondrial DNA (mtDNA) depletion syndrome due to TK2 gene mutations has been evaluated serially over the last 10 years. We observed progressive muscle atrophy with selective loss of type 2 muscle fibers and, despite severe depletion of mtDNA, normal activities of respiratory chain (RC) complexes and levels of COX II mitochondrial protein in the remaining muscle fibers. These results indicate that compensatory mechanisms account for the slow progression of the disease. Identification of factors that ameliorate mtDNA depletion may reveal new therapeutic targets for these devastating disorders.