By close I mean within a decade. Especially if you have SCA3 which is already in the pipeline for treatment.
First the cliff notes version:
A company in the Netherlands is moving towards a human clinical trial of a technology that could actually CURE many genetic SCAs with a one time injection into the brain:
In 2013 when I first learned I had the SCA1 mutation, I contacted Dr. Beverly Davidson and she said to me "there is real momentum" in her research. I kept in contact for the first 3 years, but then I became discouraged when it seemed to me her research in primates simply hadn't been moving forward to clinical trials as she had indicated. Well now it turns out her team in Philadelphia was not the only one researching this avenue, and now a company in the Netherlands is actually moving to human clinical trials of a gene therapy that would be a one time procedure that has the potential to actually CURE polyQ disorders by "silencing" the errant gene. The formal name for this technology is Adeno Associated Viral Vector. The company is called UniQure, and they are moving towards a first ever human clinical trial of an AAV treatment for a polyQ disorder, Huntington's Disease. What is key to understand here is that Huntington's disease is just one of a group of diseases called Polyglutamine Disorders, all of which stem from a genetic mutation that causes the body to produce a toxic protein. What's more this technology is best suited for a disease where the toxic protein is toxic because it has a "gain of function" meaning it's NOT toxic as a result of failing to do a job, but because it has BECOME toxic. This is important because this technology turns the gene off and stops the production of the protein so if the body NEEDS the protein then that could be a problem, but at least in the case of SCA1 the latest research shows the mutant protein to have just such a cause of toxicity: scasource.net/2018/09/24/dy...
Now the downside: What remains to be seen in the human trials is whether or not this technology will have any adverse effects. The good news is that there is already proof in humans in other studies that gene silencing can be effective with minimal side effects. Also this technology can not reverse damage already done. So for people already suffering with debilitating symptoms this technology, sadly, can not make one better. What is hoped, is that it will stop progression or onset. The final downside is pricing. Novartis has a similar treatment for a neurodegenerative disease called SMA, and they are charging $2.1 million for the single treatment which wouldn't include the medical charge of administering the drug. Hopefully, as the technology gains more applications the price will fall dramatically.
So, Stanleyclan, if you are reading this I would say your children have just gotten real hope that they will never have to fear SCA3.
Cheers!
Joe
EDIT:
" Polyglutamine-expansion disease family encompasses at least nine heritable disorders, including Huntington disease (HD) and the spinocerebellar ataxias SCA1, SCA2, SCA3, SCA6, SCA7 and SCA17."
Thanks for monitoring theses research studies. I admit that this is wonderful news on the horizon of research, but my true hope lies in your regimen of wellness. Your multi-prong approach for overall nutritional and physical health is the real hope for immediate consumption. I might suggest meditation as an additional modality as there are studies that suggest attitude and emotional health influences the body's ability to sustain well-being.
I had read about this therapy and contacted the company back in Dec of last year to inquire about when they would start human clinical trials on ATM150 which is specifically for SCA3. I’ll attach their response:
Hello Nami,
I’m Dan, the Director of Patient Advocacy here at uniQure. Thank you for writing.
As for right now uniQure’s program in SCA 3 (AMT-150) is in the pre-clinical phase - we are not yet doing a clinical study. It is hard to predict when we would begin clinical trials – there are many steps in the pre-clinical phase and it is imperative that the work is done thoroughly to ensure safety. Please see below for information on the program from our November 19th press release.
If you’re interested in our program, what I would recommend is signing up at the uniQure website to get our press releases via email. Then you will be up to date as the program progresses. You can also follow us on Twitter (@uniQure_NV) and LinkedIn and when you see that we are getting close to initiating our clinical trial, feel free to get back in touch.
Most importantly, one should talk to their doctor about what is happening in clinical research. Your doctor will be your best resource for guiding you to any research being done. Beyond that I would also encourage you to connect with the National Ataxia Foundation. They will be a great resource for getting connected to research, as well as to support groups and other helpful information.
I wish you all the best, please take care.
Sincerely,
Dan
· Introduced new gene therapy candidate AMT-150, a novel treatment for Spinocerebellar Ataxia Type 3, a central nervous system disorder.
Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease, is caused by a CAG-repeat expansion in the ATXN3 gene that results in an abnormal form of the protein ataxin-3. People with SCA3 experience brain degeneration that results in movement disorders, rigidity, muscular atrophy and paralysis. There is currently no treatment available that slows the progressive course of this lethal disease.
AMT-150 is a one-time, intrathecally-administered, AAV gene therapy incorporating the Company’s proprietary miQURE™ silencing technology that is designed to halt ataxia in early manifest SCA3 patients.
In an in-vitro study with human Induced Pluripotent Stem (IPS) derived neurons, AMT-150 has been shown to lower the human ataxin-3 protein by 65 percent, without any off-target effects. The Company also performed a proof-of-concept in-life study in SCA3 mice demonstrating that AMT-150 was able to lower toxic ataxin-3 protein by 65 percent in the brain stem after a single administration. Further studies in non-human primates demonstrate the ability to distribute and express a reporter gene at a clinically relevant level in the most degenerated brain regions in SCA3.
These preclinical studies show that a single administration of AMT-150 results in sustained expression and efficient processing with on-target engagement. They also show that AMT-150 appears to be safe due to the lack of off-target activity. The Company is currently performing studies in large animals to demonstrate further safety and efficacy.
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