Mehmet Kuzu, a software engineer from Google, had devoted the past three years of his life, searching for an intervention, as his daughter – Ipek is suffering from ataxia-telangiectasia or A-T, a rare genetic condition which causes gradual loss of brain cells and put her at a higher risk of infection and cancer. If nothing is being done, Ipek may not survive through her early adulthood.
Kuzu first met with a team of Los Angeles based scientists who are experimenting with personalized genomic medicine. However, these researchers have doubt if the drug will work as they have never tested it on human before. They asked Kuzu to wait for a breakthrough, which should take place in the next couple of years but this is not what he wants because Kuzu is unsure whether Ipek will have such luxury of time.
Eventually, Kuzu chanced upon Dr. Timothy Yu from Boston, who was also testing out this same new technology “antisense” as the group of Los Angeles based scientists. In human, DNA is responsible for encoding information to generate proteins while RNA are the messenger molecules in between DNA and protein that fetches gene information out of cell nuclei. So what antisense does is it acts as a “gene-silencer”, attaching itself to RNA messages and block certain proteins from being encoded and in turn, prevent certain genetic errors from occurring.
Atipeksen: For Ipek with A-T
The first antisense drug was made more than two decades ago but it did not get any attention until year 2016, when nusinersen was manufactured to treat young patients with spinal muscular atrophy. Dr. Yu had no experience in working with antisense but he had identified the genetic error that causes another condition called Batten disease, which gave him the motivation to embark on developing a targeted drug.
This is probably where the remarkable part of new technology lies. Dr. Yu, someone who is not exactly familiar with antisense, is now able to design a new drug from it. Not only that, Dr. Yu managed to create milasen (i.e., the drug to treat his Batten disease patient), tested it on animals, and persuaded the US Food and Drug Administration (FDA) for approval, within a span of eight months.
After this initial success, Dr. Yu suddenly found himself approached by over 100 families asking for help, including Kuzu. Dr. Yu knew he cannot copy-paste the same approach to all patients who had come to him for help because there is no guarantee all new drugs will turn out to be equally successful. Besides, conducting trials and perform safety tests on animals may incur a high cost on patients.
Yet, Kuzu was not concerned by any of these. The group of Los Angeles based scientists he approached earlier had shown that antisense-produced drugs may work. A charity which Kuzu had come by – the A-T Children’s Project is also willing to fund the research. To be fair, the charity had decided to support the testing of antisense drug on three other young A-T patients apart from Ipek. Whoever that responds best to the test will be funded eventually.
Meanwhile, Kuzu had raised about $200,000 from friends and fellow colleagues at Google. The good news finally arrived last September when Dr. Yu informed Kuzu, Ipek responded best to the antisense drug test. This January, the family moved to Massachusetts so that Ipek can receive her first dose. Dr. Yu named the new drug “atipeksen” meaning for Ipek with A-T.
As the making of such one-person drug involves altering genetic information within a patient’s cells, some begins to wonder, if DNA is like a piece of software, we are able to modify a particular code within the program, so that it works in the way we want or works only for this targeted individual.
The future of hyper-personalized drug
Ipek will be closely monitored in the coming year, as her brain volume and various biomarkers will be assessed to determine the progress of her condition. A separate team of researchers at Johns Hopkins University will also compare her movements with other A-T and non-A-T children to see if the drug is truly delaying some of her symptoms.
In spite so, the future of hyper-personalized drug remains cloudy. In the past, new medication had to be tested on many patients to prove that it works but it’s not the case for this type of medication meant for a single patient. Diseases like A-T tends to progress differently in different individuals, but most patients and their families are willing to risk anything; forgo other treatment options and give tailored genomic medicine a try.
Furthermore, no pharmaceutical company is willing to make a drug that is meant for one-person only. Likewise, no insurance is willing to absorb the cost of making a drug that can only be sold once or a handful of times. As of now, it costs $1.9 million to develop Ipek’s treatment and this is not something an ordinary family can afford. At the end of the day, such treatment option may probably only be reserved for the wealthy and well-connected.
Some believe the government should start funding such treatment option. Others feel that agencies like the FDA or the US National Institutes of Health should shoulder some of these researches too. There is no concrete plan at the moment, most of the time, it still relies on a parent like Kuzu, who is willing to sacrifice everything for their child’s health, to drive a real change.