Is there a cure for nonsense mutations?
The straight answer is yes. There are medications that can help with nonsense mutations. Those drugs may work for all genes in theory. If you would like to understand how this can be, please read our "What is a nonsense mutation?" article first.
Let's get to know the medications that have already been clinically tested for their nonsense mutations abilities:
Gentamicin is an antibiotic. It belongs to the Aminoglycoside antibiotics family. It was long known (since the 70's) that Aminoglycoside antibiotics have read-through abilities that can skip over premature stop codons. It took 20 years until it finally reached a clinical trial in humans.
It was clinically tested for cystic fibrosis, Duchenne syndrome, as well as few others disorders. The results were promising.
You can read about it via these scientific publications:
But Gentamicin can't work as a long term medication. Gentamicin is toxic, it can't be administered for a long period of time.
The success of those clinical trials drove scientists to try and replicate the Aminoglycoside mechanism while reducing its toxicity. There are some molecules that showed superiority to Gentamicin in the lab, with less toxicity. Still most of those molecules didn't make the way to become a medications (yet).
Ataluren is the first medication to hit the market which specifically targets nonsense mutations. It is currently approved only at the European union for Duchenne syndrome. The medication has been approved for usage since 2016. Ataluren was also clinically tested on a few other disorders which didn't yield a good result so far. At the time of this writing (2020), it is still being tested for Epilepsy. While not being successful in other disorders, it was tested only for 8 disorders out of 7,000 genetic disorders.
Erythromycin is another antibiotic, it comes from a different family of antibiotics called Macrolide. It is not as toxic as Gentamicin, thus it can be administered over a long period of time. It doesn't have the same track record the Gentamicin has behind it in relation to nonsense. It was clinically tested as a nonsense mutations medication only for the APC gene. It showed very good results:
Pre-Clinical Tested Medication
There are several medications that were tested on human cells or animal models that show the ability to read through the nonsense mutations. In this we included medications that are under an ongoing trial not completed yet. :
Azithromycin - Clinical trial for the APC gene
Elx-02 - Phase II for Cystic Fibrosis
There Are Even More
There is a long list of molecules that were tested for their abilities to treat nonsense mutations in human cells or animal models. Those molecules are not approved as medication, but some might serve as future drugs.
How come I don't get those medications?
This is one of the core reasons that drives our foundation - We strive to broaden the usage of those medications for more disorders. While we are aware that these medications won't serve all disorders and all patients, we have a strong belief, a broadened usage can bring cure to many families.
There are several pharmaceutical companies targeting nonsense mutations, with technologies the can revolutionize the field of nonsense, this list will keep growing.
It's important to know this list, you can share it with your physicians. Please, do not try any of these medications without first consulting with your physician, some of the medications on the list are highly toxic and require close monitoring.