Zavesca Clinical Trials for Tay-Sachs

                Beginning in 2003, clinical trials for a new drug called Zavesca were being conducted here in the United States at New York University School of Medicine and Cleveland University Hospital.  At that time, this drug was being used in Europe to help those affected with the Late Onset Tay-Sachs disease, so the United States decided to begin tests here to see if this is a possible treatment or cure for this disease that would be safe enough for Americans to use. According to doctors and scientists in Europe, this drug is helping Late Onset Tay-Sachs patients with their gait and motor function.

                Zavesca is a substrate reduction or inhibitor therapy pill that appears to work best for those with the Late Onset Tay-Sachs. This drug reduces the buildup of GM2 ganglioside aiding in the neurological functioning of these patients. Zavesca’s chemical name is OGT918 or miglustat and comes in pill form as a 100 mg capsule, but has been used as crushed pill forms for the clinical trials involving those babies affected with Tay-Sachs disease.

                There are some very serious side effects associated with the use of Zavesca such as extreme nerve damage that may result in numbness, tingling, burning sensations, and tremors in the hands and feet. Some not so serious side effects include, but are not limited to: diarrhea, constipation, problems with vision, abdominal pain, weight loss, dizziness, headaches, and muscle weakness. As with any medication, there is a possibility of severe allergic reactions that could cause extreme swelling of the throat and difficulty breathing, as well as hives and redness.

                Due to the complexity and newer release of Zavesca here in the United States of America, this medication can be very, very expensive for patients who do not have health insurance, or who do have health insurance, but this medication is not covered. On average, Gaucher patients take one 100 mg capsule three times daily. Each pill costs about $110 totaling at about $330 a day to take this medication. Amazingly, this medication is one of the cheapest options in its class and is usually the first recommended medication for those suffering from Gaucher disease.

                There must be real hope for this drug because in 2005, scientists decided to have clinical trials with Zavesca for infants affected with the Tay-Sachs disease and they crushed the capsules and administered the medication orally or through feeding tubes. For today though, Zavesca is not used for the treatment of any level or stage of Tay-Sachs and is only approved for the use in patients suffering from Gaucher disease and is only used if enzyme replacement therapy was unsuccessful or not a feasible option. However, research and clinical trials are still being conducted to hopefully find a treatment or cure for Tay-Sachs disease.  

An Overview of Tay-Sachs Disease

                Tay-Sachs Disease is a fatal autosomal recessive genetic condition. It is caused by an inactivity of the beta-hexosaminidase A enzyme which aids in the breakdown of gangliosides. This leads to the harmful buildup of ganglioside GM2, a fatty substance that is made and broken down very rapidly during infancy. The genetic mutation can be found on chromosome 15. The only way a child can develop this disease is if both of their parents are carriers and/or affected with Tay-Sachs Disease. It is recommended that those couples who are planning to start a family and have a family history of Tay-Sachs, have genetic testing and counseling.

                
               There are three types of this disease- Infant, Juvenile, and Late-Onset Adult. The Infant type is the most common of the three and most often develops when the baby is three to six months old. This type of Tay-Sachs usually results in the child dying before the age of four. Juvenile is the next most common and occurs around age, ten. Life expectancy of those patients with Juvenile Tay-Sachs usually pass away by the age of fifteen years old. The Late-Onset Adult Tay-Sachs is the rarest of the three and develops in the adult years.

                Common symptoms of Tay-Sachs disease include loss of muscle tone, mental retardation, decreased social skills, irritability, deafness, slowed growth, loss of motor skills, red spots on the eyes, inability to swallow, and blindness. More rare symptoms are seizures, dementia, and paralysis. As a patient with Tay-Sachs continues to develop, the symptoms usually tend to get worse and lead to death. Most commonly, lung infections take the lives of those affected with Tay-Sachs Disease.

                There is no known cure for Tay-Sachs, but medications may be prescribed to help keep the patient comfortable.  Some medications include anticonvulsants for seizures and pain medications. Prescribing a very nutritional diet and hydration plan can prolong a patient’s life. A feeding tube may be used when the patient has lost the ability to swallow and breathing tubes are also useful to help those with Tay-Sachs breathe and avoid infections of the lungs. Chest Physiotherapy relieves the patient of mucus, which may also contribute to lung infections. Physical therapy may be used to slow the stiffening of joints and maintain muscle tone.  There is research being done on gene therapy, stem cell transplantation, substrate reduction therapy, and the possible benefits of Zavesca and Pyrimethamine (PYR) medications.

                Tay-Sachs is considered a rare genetic disease, though it is estimated that 1 out of every 200 people carry the mutated gene. It is a serious condition that needs more attention and awareness.