EDIT: This is a post I made on another site and one that is linked in another post on this site. I am soon going to start a "Go Fund Me" campaign to begin a patient lead research trial. If you have SCA1,3,14,17 or Telangiectasia I beg you to please contact me at PeckJA@aol.com. I am helping my father and aunt to get better and I know I can help others if only people will take this seriously. Thank you all for taking the time to read. Please read it all carefully. There are many question still to be asked and answered and I harbor no hopes that this will work for everyone, but it IS working for my family and a few others with whom I am in contact. The more people that try this the sooner we can prove it works and for whom and why.
Here's the post:
I am sorry it has taken me so long to find this site. I have been very active on the NAF site for a couple years, but didn't even know this site existed. Anyways, a quick bio not to brag, but to show that although I am not a doctor, I am highly intelligent and am not some internet quack. The information I am about to present is not guess work or hearsay, it is backed by clinical science, and I have spent literally hundreds of hours researching and reading scientific paper after scientific paper.
First the brag sheet: My name is Joe Peck. I'm 50 years old. I'm a devoted husband to a wonderful wife, Darcie, and the father of 3 amazing kids Grace, 19, AJ (Angela), 17, and Carson, 16. I was my high school valedictorian and graduated Dartmouth College Thayer School of Engineering with a Masters degree. Currently I'm a Captain for United Airlines. My father and my aunt have SCA1 diagnosed using genetic testing. I carry the mutant allele for SCA1 with 42 repeats. I have no symptoms. My father and my aunt are highly symptomatic, but in their late 70s. Since 2013 when my family learned of the genetic illness, I have been searching the world over for a solution.
So enough about me let's get to the point . . .
In the last month, my father and my aunt have taken steps with a walker after having been in a wheelchair for almost a year.
I believe the improvement my father and my aunt are experiencing is due to the use of two supplements, one of which has long been discussed and tried with mixed results and the second being relatively new. Those supplements are trehalose and nicotinamide riboside, also called Niagen. I believe this combination can work for CERTAIN people. This combination is working for some people today even some people in real clinical trials. Who you ask? Well, I can't say with 100% certainty because I do not have the ability to research these questions nor has the research been done to the extent necessary, but it is likely that this combination of supplements may be helpful for people who are genetically identified with SCA1,3,14,17 or Huntington's Disease, or OPMD, and who either have no symptoms yet or have very early minor symptoms. Tragically, it is most likely NOT a cure for people who are late in the stages of the disease or who have ataxia not related to a genetic polyQ disorder.
Now for the science. Trehalose was first mentioned in 2004 as a possible treatment for SCA1 and Huntington's Disease. Since that time there have been more than 20 scientific papers proving it works to cure ataxia's of various kinds in mice. Until recently there was no human evidence. Many people had tried taking trehalose before with no effect. Recently a company known as BioBlast Pharma in Israel completed several human trials on people with OPMD ( a type of ataxia causing drooping eyelids and trouble swallowing) as well as people with SCA3. BioBlast injected trehalose into the blood stream of patients once a week for a year. ALL the patients who were treated for a full year either stopped getting worse or got a little better. Patents with BOTH types of ataxia. In short BioBlast has proven trehalose works in humans just like it did in mice. The problem is BioBlast doesn't plan on bringing this treatment to market for another 4 years, plans on charging upwards of $300,000 per year, and will only make it available initially to people with OPMD.
So . . . where does that leave the rest of us . . .
Now we know trehalose works. For those of you who are not familiar with trehalose let me give you a quick lesson. Trehalose is a sugar found in nature mostly in mushrooms, but it is made by the food industry using yeast. It has been around for decades. It is not like regular sugar because it is very difficult to digest so you can eat a ton and it doesn't spike your blood glucose or make you fat. My dad is pre-diabetic and is eating 4 Tbs a day with no trouble or weight gain. How does trehalose help? Well, in many SCA's the symptoms are caused because the bad gene is producing a protein that is too big for the brains normal processes to clean it out. In mice trehalose molecules were shown they could cross the blood brain barrier and attach to the proteins in such a way that the brain was able to clean them out like regular proteins. Getting rid of the bad protein buildups allowed the brain to recover a little bit and stop getting worse so mice were cured of ataxia when fed trehalose from a very young age. Now because of the work done by BioBlast we know trehalose can do the same for humans. Trehalose can NOT repair damage already done to the brain so it can NOT make someone with severe symptoms suddenly better, BUT for someone with very early symptoms or no symptoms at all trehalose can at least delay and maybe even stop the progression of symptoms. We have no data on the longterm use of trehalose so we don't know if it will stop working after some time. What I can tell you is that I have found 5 people around the world who have either SCA1,3, or Huntington's disease that have been taking trehalose for close to a decade and all of whom are well past the age at which they would have expected symptoms to appear. One gentleman is 70 years old with 40 repeats and is still symptom free. All of these people have been eating 4 Tbs a day, EVERYDAY, for years and years. Remember trehalose is a harmless sugar sorta like Sweet 'n Low. My dad and my aunt have been taking 4 Tbs a day in 4 cups of tea spread out evenly throughout the day so one cup in the morning, one cup in the midday, one cup in the afternoon, and one cup after dinner. One big problem is that different people absorb trehalose in very different amounts so where 4 Tbs appears to be helpful for my dad and aunt there is no research to support a belief that that amount would work for other people.
So to summarize: trehalose has been proven to slow or halt progression of some ataxic symptoms in humans. The human trials used direct injection into the blood of 13.5gs. There are no clinical trials of humans eating trehalose and getting the same benefit, but there is anecdotal evidence to suggest it is possible for some people to eat 70 to 100g per day and get the same benefit.
Next Niagen:
Niagen is the commercial name for a vitamin B3 discovered in 2004 called nicotinamide riboside. It is similar to niacin but it has some interesting effects that niacin does not. First off the research on Niagen is much less than that of trehalose, but importantly there are two recent scientific papers that are relevant for people with SCA or Ataxia Telangiectasia. The first paper was a human clinical trial that studied Niagen dosage in humans. What they found was that Niagen was safe to consume with minimal side effects up to a dosage of 1000 mg per day and more importantly at a dosage above 300 mg Niagen stimulated the production of NAD+ which is a chemical used by your brain to trigger repair of damaged cells. NAD+ and it's importance in the brain has been extensively researched. The second paper was a test wherein the scientists fed Niagen to mice who had Ataxia Telangiectasia and the mice were cured. Here again as in the trehalose experiment the mice were fed treatment early in their lives so there is no evidence relating to late stage treatment. The important factors here are 1) Niagen is proven safe in humans, 2) Niagen is proven to have the same impact on NAD+ production in humans that it did in mice, and 3) increased NAD+ in mice allowed mice to grow new Purkinje cells. For those who don't know damage to Purkinje cells in the brain has been shown to be a major factor in the cause for ataxic symptoms in genetic ataxias. My father and aunt are taking 500 mg, (2 pills) twice daily, of Niagen as am I.
So that's it for now. Please email me at peckja@aol.com if you would like to ask questions or would like me to send you any of the scientific papers upon which this is all based. Also, remember I am NOT a doctor, and the best course of action is to arm yourself with knowledge and consult with your own physician to see what is best for your situation. Lastly and I will save this for another post later, but I believe there is more to be done including a "wholistic" approach using exercise, diet, prayer or meditation, and a medication "cocktail". I believe that attacking illness with everything you've got is important to achieving peace and success.
God Bless!
Joe in NY
P.S. One question folks may ask is why isn't this being studied or why hasn't it been studied? Good question! Believe it or not I have been in contact with dozens of scientists world wide including many from the National Institute of Health in the U.S. The short answer is scientists think anything that is a "supplement" is not worth investigating. So because trehalose is a sugar you can buy on Amazon for $9 lb, and Niagen is a vitamin B supplement that costs $40 a month and can be bought online, no research facility is willing to take the time to do an in depth study. That is tragic and is the reason I am here.
Let me summarize. I recommended Niagen as well as trehalose because:
2020..Possible treatment for Idiopathic Cerebellar Ataxia 
