Wednesday, March 7, 2012

Tay-Sachs Disease Agencies and Organizations Available

                 Having a baby that is affected with Tay-Sachs disease can be a very stressful time for a family and there are various organizations, agencies, and support groups available to aid in answering any questions or concerns. There are also some treatment facilities that are on the cutting edge of science and medicine that may be able to help your child or yourself if you have been diagnosed with Late-Onset Tay-Sachs disease.

                There are some very good resources out there that are available to use when searching for information on how this disease works and the history of it. One site with such information is National Tay-Sachs and Allied Diseases which can be viewed at www.tay-sachs.org This website has a good overview of how this disease works in the body and how one goes about getting their child tested. Another place that may be of some helpful information is the Center for the Study and Treatment of Jewish Genetic Diseases. Their website is http://www.mazornet.com/genetics/tay-sachs.htm#Resources This site has many statistics on the history of Tay-Sachs, especially in the Jewish populations since this group tends to be at a much higher risk of being affected with Tay-Sachs disease.

                If you want to get involved in helping find a cure for this disease, there are many organizations and foundations out there that are currently raising money to help fund research studies and provide grants for specialized projects in gene therapy and other forms of treatment. One website that seems to be on the front lines of these efforts is the Cure Tay-Sachs Foundation. There website is http://www.curetay-sachs.org/ Since their beginnings in 2007, they have managed to raise over 2 million dollars and have funded various research studies and have plans for more later on this year.

                Some other foundations and websites that are raising money and connecting those who are parents of children with Tay-Sachs disease with other parents and doctors that may be of some assistance are Madison’s Foundation (http://www.madisonsfoundation.org/) , MUMS National Parent-to-Parent Network (http://www.netnet.net/mums/) , March of Dimes (www.marchofdimes.com) and NORD: National Organization of Rare Disorders (http://www.rarediseases.org/) .

                There are treatment facilities out there that are working to help treat Tay-Sachs disease. Though there is no known cure for this disorder at this time, these facilities provide some services that may make patients more comfortable. The Mayo Clinic in Florida is a top-notch facility that may be able to help. Some other treatment facilities include, but are not limited to: the World Health Organization, Duke University Hospital, the National Institute of Neurological Disorders and Stroke, Johns Hopkins Hospital, and some other major university hospitals.

                If there are any foundations, organizations, or agencies that are helping in the fight against Tay-Sachs disease, please feel free to comment on this blog post and give the name and website of the organization so that other viewers can have even more resources.

Note: RateADrug.com and I are in no way associated with the above mentioned websites, organizations, agencies, foundations, and the like. This is just a few resources that can be used if viewers have more questions that have not been discussed in my previous blog posts.    

Tuesday, February 21, 2012

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.  


Monday, February 13, 2012

Substrate Reduction Therapy Research

                Last week, stem cell gene therapy was discussed as a current research topic for the curing and/or treating of Tay-Sachs disease. There are many other therapies and drugs being researched and tested in hopes of finding a cure for this illness. Another research theory is the idea of using substrate reduction therapy to help those infants affected with Tay-Sachs.
                Substrate reduction therapy is centered on the idea of lowering the rate of ganglioside production to better match the level of residual hex A enzyme in the nerve cells found in the brains of patients suffering from Tay-Sachs. The ideas of substrate reduction therapy was thought of in the early 1980s, but there were mixed emotions regarding this notion and so it took a while before scientists and researchers decided to test the idea. The problem with substrate reduction therapy for patients suffering from Tay-Sachs disease is the amount and time at which it is used on a patient. The lipids which make up the phospholipid bilayer around cells may be distorted and cellular production and differentiation could be disturbed.
                The main downside about substrate reduction therapy is the fact that this is yet another therapy that has a hard time passing through the blood-brain barrier. This treatment has been useful for those affected with Gaucher disease which is similar to Tay-Sachs in how both have enzyme production abnormalities. However, the big difference is that Gaucher disease does not stem from the brain, but rather the spleen. This treatment is said to have helped close to 3,000 people worldwide affected with Gaucher disease. Maybe one day Tay-Sachs will have a cure found like this one that is being used for the Gaucher disease.
                Substrate reduction therapy is not available at this time to those diagnosed with Tay-Sachs disease. It is still being tested on mice and primates, but scientists and researchers are hopeful that the FDA will allow them to extend studies to clinical trials, but when and really even if that will happen is still a big question being asked. It is also being discussed that perhaps no one treatment will slow, stop, or reverse the Tay-Sachs disease, but rather a combination of various drugs and therapies.   

Monday, February 6, 2012

Tay-Sachs Disease Stem Cell Gene Therapy Research

                At this time, there is no known cure for Tay-Sachs disease. There are medications only available to help make the patient more comfortable and able to function a bit better. However, scientists, doctors, and researchers are working together to find a cure for this illness and they have been coming up with some cutting-edge techniques and research theories. Some of these studies include stem cell therapy to help slow or reverse the effects of Tay-Sachs disease.
                There is research being done with adult stem cells, umbilical stem cells, and Hematopoietic stem cells which are cells that have not differentiated yet. It is hoped that stem cells could help replace genes that are defective or mutated such as the Tay-Sachs mutation. There has even been research on using stem cells to regrow tissues and neurons. Scientists are hopeful, but they have said on many occasions that any cures resulting from stem cells are still many years of research and experiments away.
                There are many controversies with the use of stem cells in research to cure diseases and illnesses. Many are ethical and moral issues involving the type of stem cells used and in what way they are being utilized. A large barrier to using stem cells for treatment is that we still don’t know enough about these cells and what they can and cannot do. It’s difficult to just put something into someone’s body when we do not fully understand the pros and cons of that treatment.  
                When it comes to Tay-Sachs, scientists are running into challenges with how to best insert the stem cells into the brain of an affected person and having the cells aid in transport of genes and enzymes into the correct neurons. Also, it’s difficult to find a cure or therapy that can be inserted into the bloodstream and then cross the blood brain barrier. This is a very, very selective barrier the brain has so as to protect this vital organ from bacteria and diseases that may be in the blood itself, but this is what makes treatments difficult to work properly. Tay-Sachs results from problems in the brain itself, and if the treatment cannot simply be inserted into the bloodstream and pass this barrier, it becomes so much more difficult to administer therapy effectively and safely. This barrier is there for a reason and to just manually insert the stem cells into the brain may increase the likelihood of infection and bacteria getting into the brain which is potentially fatal. Also, the brain is less likely to accept the new stem cells when they did not “naturally” come into the brain via normal passageways.  
                Stem cell research is looking more and more like a possible treatment for not only Tay-Sachs, but other diseases and illnesses, as well. There is still a long road ahead of research studies and experiments and treatment trials with stem cell therapy and transplantation.

Sunday, January 29, 2012

Anticonvulsant Medications Treating Tay-Sachs Disease

                 Tay-Sachs Disease cannot be cured, but there are medications out there to help treat the symptoms of this condition and make the patient more comfortable. Many infants that are affected with Tay-Sachs Disease have seizures and there are anticonvulsant medications out there to help these infants avoid having clonic-tonic or grand mal seizures. The prescriptions given to these infants are very similar if not the same for those people affected with epilepsy.
                One of the most common medications given to those that have Tay-Sachs Disease is Tegretol or carbamazepine. This medication comes in chewable tablets of 100 mg, tablets of 200 mg, and extended-release tablets of 100 mg, 200 mg, and 400 mg. This is a common medication given to individuals who have seizures. It helps to prevent seizures before they start and though it works well for this, it does have many precautions and possible side effects. Tegretol should not be used if the individual has allergies to other anticonvulsant medications, has bone marrow problems, or certain blood disorders such as acute intermittent porphyria. This medication often times causes dizziness and drowsiness and makes the patient more sensitive to the sun which may lead to higher chances or severity of sun burns. A serious skin condition can result in using this medication.
                Another anticonvulsant medication used is Dilantin or phenytoin for seizure treatment and prevention. Dilantin only comes in a 100 mg extended oral capsule. This is also a common anticonvulsant medication. As with any drug or medication, there is always the possibility of an extreme allergic reaction, especially if the patient is already known to be allergic to other anticonvulsant medications. This may not be an appropriate treatment for those that use alcohol, have liver problems, have certain blood disorders, have lupus, have a vitamin B-12 deficiency, and/or have diabetes. The most common side effects are dizziness and drowsiness, and also swelling and bleeding of the gums of the mouth.
                Depakine which is known as valproic acid is another medication that may be prescribed to control seizures in Tay-Sachs patients. This medication comes in a 250 mg liquid-filled capsule and also as a liquid solution. This may not be an appropriate drug for those that have liver disease, kidney disease, pancreatitis, and/or certain metabolic disorders and conditions. As with most anticonvulsant medications, drowsiness and dizziness may occur and are common. There are some very serious, possible side effects that may occur and include hepatotoxicity- which has a higher risk of occurring in those patients younger than two years old, teratogenicity effects such as neural tube defects and spina bifida, and pancreatitis.
                These are common medications given to those who have been diagnosed with Tay-Sachs Disease, but there are more and varied anticonvulsant medications that may be more beneficial for a particular patient. You should consult with your doctor about what kind of anticonvulsant medication would be best, in what dosage, for how long, and even if it is a wise decision to start the use of an anticonvulsant medication for an individual suffering from Tay-Sachs in the first place. More information can be found about the medications discussed above, as well as other options, online at http://www.rxlist.com/script/main/hp.asp     

Sunday, January 22, 2012

Testing for Tay-Sachs Disease

                Now that we know more about Tay-Sachs disease as far as how it affects the body and who has a higher risk of inheriting the genetic mutation, how does one test for such a condition? Is there a test that can tell you if you have a child with Tay-Sachs? Can the test tell if a potential parent is a carrier of the disease, and if such a test exists, where can you go to have it done?
                Though Tay-Sachs disease is an awful condition, fortunately there is a test available to find out if your child may have Tay-Sachs, and to also see if you’re an adult who is a carrier of the genetic mutation. It is a simple blood test that measures hexosaminidase A (hex A) enzyme levels (look at my first post on this blog to see more on how hex A relates to Tay-Sachs). The test can be done on a baby who is suspected of having Tay-Sachs, and can also be used for adults suspected of being carriers. This blood test can be done from extracting blood from a vein, the umbilical cord, amniotic fluid, and even the placenta.
                A healthy baby inherits a gene from each parent that codes for the proper amount of hex A to be made. If the baby inherits only one gene that codes properly from one parent, and the other gene is mutated so that hex A is not made properly from the other parent, then that baby is said to be a carrier of the disease. An adult can go through life without ever knowing they were a carrier for Tay-Sachs, so this test would be appropriate for an adult that has had a family history of Tay-Sachs, or their partner is a carrier or has a family history, as well. This is the test recommended for potential parents who are worried about having a baby with Tay-Sachs. If a baby inherits a mutated gene from each parent who is obviously a carrier, or even affected with Late-Onset Adult Tay-Sachs, then that baby will have Tay-Sachs disease. This test would be administered if the baby begins showing signs of Tay-Sachs (please see my previous posts on this blog to read the signs and symptoms of Tay-Sachs disease in infants under 6 months old).
                If you want to have this test done on you, your baby, or even your unborn infant, it is best to speak with your doctor about why you want to have it done. Also, there is a possibility your family doctor or OB/GYN can administer the test and have it sent out or tested at their lab. The prenatal test can be done around the eleventh week of pregnancy.
                This is a helpful, easy test to find out if you are a carrier, or if your baby has Tay-Sachs. Secondary genetic tests are suggested if you come up positive for being a carrier, or if your baby has it, or even if you may be developing the Late-Onset Tay-Sachs disease. For more information on available tests, take a look at: http://www.webmd.com/parenting/baby/tay-sachs-test
               
               

Friday, January 13, 2012

The Prevalence of Tay-Sachs Disease in Certain Populations

Tay-Sachs Disease is a rare genetic condition with about 1 in 200 people being carriers. This statistic is not the same for all populations, though, as it is estimated 1 in about 30 people of Ashkenazi Jewish ethnicity or descent carry the disease in their genes. Ashkenazi Jews tend to be from Eastern and/or Central Europe.  There are some other ethnic populations that tend to have higher carrier rates and an increased frequency of the disease such as French Canadians, those of Irish ethnicity, and Louisiana Cajuns.
                The reason why Tay-Sachs Disease is more common in the Ashkenazi Jewish population is due to the fact that many Jews prefer to marry others of Jewish descent for both political aspects, as well as religious reasons. Since Tay-Sachs Disease is an autosomal recessive genetic condition, it is required that both the mother and father of the child be carriers of the disease. If indeed both parents are carriers of Tay-Sachs, there is a ¼ or 25% chance that the child will be affected with Tay-Sachs Disease, itself. If one parent has the disease and the other parent is a carrier, there is a ½ or 50% chance that the baby they have will exhibit Tay-Sachs. Since this ethnic group has a high carrier rate, they are more likely to have an affected baby. This is why it is important to have genetic testing performed before having a baby if you have a family history of Tay-Sachs, or are of Ashkenazi Jewish ethnicity, are French Canadian, are Irish, and/or are Louisiana Cajun.
                There are some other theories that suggest why this Jewish population has such a high carrier rate. One theory is called the Founder Effect. Many people alive today that are Ashkenazi Jewish or descended from it, can trace their ancestry to a select “founder” group of a few thousand Jews that lived in the area of Eastern Europe around 500 years ago.  If this is the case, the mutation probably started back then and has since become more common and passed on more often within that population resulting in higher carrier rates.
                Another theory says perhaps the reason why the Tay-Sachs Disease gene increased in this population is because it has a certain evolutionary benefit or advantage. Maybe being a carrier of Tay-Sachs can help prevent a specific illness or condition similar to the fact that if a person is a carrier of sickle-cell anemia, they are immune from malaria. Some scientists say that there is a chance that being a carrier of Tay-Sachs Disease could make you immune from tuberculosis or TB. However, there has been no strong evidence for this, though additional research is being conducted to find other possibilities.
                There are some other genetic diseases that are quite frequent in the Ashkenazi Jewish people. They include, but are not limited to, Torsion Dystonia, Niemann-Pick Disease, Crohn’s Disease, Canavan Disease, and Bloom Syndrome. For more information about Tay-Sachs Disease frequency in this ethnic group, as well as more information on the theories discussed above, go to: https://www.23andme.com/health/tay_sachs/

Wednesday, January 4, 2012

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.