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Showing posts from June, 2021

Betaine (TMG) and Gene Therapy as potential alternatives to Bumetanide Treatment in Autism?

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Betaine (also known as TMG, or trimethylglycine)  is a methyl derivative of glycine, first isolated from sugar beet and hence its name. Today’s post was prompted by our reader, and Covid home-school instructor, AJ.  He raised the question of whether betaine can be used like Bumetanide to normalize chloride levels in neurons. I am combing this idea with news from Genoa in Italy, where they have developed gene therapy as an alternative to Bumetanide and in their words :- “This sets the stage for the development of a gene therapy approach to overcome the shortcomings of bumetanide treatment.” The interesting thing is that neither of these ideas come from autism research.  The idea to use Betaine was stumbled upon and was then written up in a Norwegian case study about Creatine transporter deficiency.  The Italians are trying to improve cognition in brain disorders and their model of choice was Down syndrome.   As we have seen time and again, elevated chloride...

Game Changer or Fine Tuning? It depends on severity of Autism

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  There are so many possible autism interventions discussed in this blog, it clearly is not always easy to know their relative merit. There are so many people now diagnosed with autism it is no longer such a meaningful term.   The most extreme autism I think I will have to start calling really severe autism.   A scale of 1 to 100 would be much more helpful than the current levels 1, 2 or 3. I suppose Elon Musk and Greta are level 1. One reader did recent describe the effects of bumetanide in his child as being game changing.   I think it is an excellent description to use.   For our reader Roger, Leucovorin was a game changer. Another reader wrote to me to give an update about his three year old “After 3 months of bumetanide treatment I've seen improvement on his cognition, like, he is now able to finish an apple and take the end to the trash by himself or enter in his room, turn the lights on, take some toy, turn lights off and close the door or eat his lun...

Update on Roflumilast/Daxas as a PDE4 inhibitor for Autism

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  There is already quite a lot in this blog about using a PDE ( Phosphodiesterase) inhibitor to potentially treat autism. Readers might have seen the recent article below, in which a PDE-4D inhibitor raised cognition in adults with Fragile-X. Drug boosts cognition in men with fragile X syndrome   The study drug, BPN14770, is developed by Tetra Therapeutics, a clinical-stage biotechnology company in Grand Rapids, Michigan. It blocks the activity of phosphodiesterase-4D, an enzyme in the brain that degrades cyclic AMP. In a mouse model of fragile X,  BPN14770 increased cyclic AMP  and eased several fragile-X-related traits.   For the new work, 30 men with fragile X participated in a 24-week double-blind crossover study of the drug. The researchers randomly assigned each man to one of two treatment sequences: 12 weeks on the drug followed by 12 weeks on a placebo, or 12 weeks of placebo crossing over to 12 weeks on the drug. Researchers assessed all of the par...