Science good news: RNA drugs for patients with rare genetic diseases are coming out soon

On November 3, researchers published an article in the journal Science, stating that personalized RNA drugs may soon be used for rarer genetic diseases

The design idea of ​​the drug is as follows: Which protein in the human body makes people sick, or which protein can be treated as long as it is eliminated

For the human body, that's it

Three years ago, neuroscientist Tim Yu announced at the ASHG annual meeting that in just ten months, his team developed, tested and used a drug for a fatal brain disease caused by a unique genetic mutation at Boston Children’s Hospital.

At the ASHG meeting held last month, Yu shared an update: Mila passed away earlier this year-this is a tragic piece of evidence that "early intervention is essential" for neurodegenerative diseases

 But Yu's team and others are now expanding the custom ASO method, called "n of 1", because the drug is designed for only one or a few patients

At the ASHG meeting, Yu balanced Mila's results with a more promising story.

On November 3, the researchers published an article titled "Personalized RNA drugs may soon be available for more rare genetic diseases" in the journal Science

The treatment of genetic diseases usually takes many years

Yu's team passed toxicology testing and FDA approval

Although this helped her reduce her seizures and restore some muscle strength, her condition eventually deteriorated

Among them, Ipek Kuzu, born in March 2017, suffers from ataxia-telangiectasia (AT), a neurodegenerative disease caused by DNA repair gene defects

Ipek's father Mehmet Kuzu is very realistic: If Ipek didn't need a wheelchair until he was a teenager, instead of the usual 9 or 10 years old, "that would be a big difference," he said

Similarly, researchers, patient advocacy agency, and biotechnology company Ionis Pharmaceuticals hurriedly adopted regulatory measures in 2019 to customize an ASO drug for 26-year-old Jaci Hermstad to treat her rare hereditary early-onset amyotrophic lateral sclerosis (ALS)

In April, Ionis initiated a 64-patient clinical trial comparing jacifusen with a placebo

For non-progressive genetic diseases, early use of customized ASO treatment may not be so important

 She said at the ASHG meeting that her team saw significant changes in all five participants, including learning new words and sleeping better
.
Although young children have made greater progress, young people have also made progress
.
Berry-Kravis added: "The neurons are still there, but they are not connected properly
.
"

The trial was stopped a year ago because inflammation around the injection site caused the patient's leg weakness, but it was restarted with a lower drug dose outside of the United States
.
At the ASHG meeting, the retired Ionis CEO Stanley Crooke warned that this side effect is a potential obstacle to the implantation of ASOs into the spinal cord
.
 

Nevertheless, he created the n-LROM Foundation in January 2020 to accelerate the customization of aso for the mutation of the "super virus" disease-less than 30 people shared it, and most pharmaceutical companies are not interested in it
.
It is working with more than 35 families and hopes to treat its first patient, a boy with a developmental disorder caused by a rare mutation, early next year
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Academic groups in some countries are also studying custom ASO
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Yu reminded that as researchers further adopt n-of-1 ASO treatment, they must "avoid prematurely increasing expectations
.
" But Kuzu said that even if the result is uncertain, the risk is worth it
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Speaking of daughter Ipek’s illness, “If we do nothing, we know what will happen
.
”

Original title:

Personalized RNA drugs may soon be available for more rare genetic diseases