Just as technology is revealing thousands of genetic conditions behind previously unexplained symptoms, Mila and KJ’s stories are proving an entirely new way of treating those who suffer from genetic disease.
The new era of individualized medicines is here.
Now that the new reality of individualized medicines is coming to fruition, we need a system that can keep up.
To create a genetic surgery system, the FDA should work toward proportionate regulation, moving away from approving one medicine at a time to approving a process.
Julia Vitarello is Mila’s mom and founder/co-founder of Mila’s Miracle Foundation, the N=1 Collaborative, and EveryONE Medicines, the first and only company solely focused on individualized medicines.
An antisense oligonucleotide (ASO) called “milasen” was created specifically for one person, and my daughter Mila became the first person in the world to receive it in 2018. “.”.
The world learned last week that a baby named KJ had received the first customized CRISPR treatment, which could potentially save his life. Similar to how technology is uncovering thousands of genetic disorders that cause symptoms that were previously inexplicable, Mila and KJ’s experiences are demonstrating a completely novel approach to treating people with genetic illnesses. The age of customized medications has arrived.
Profitability has led to the development of nearly all medications for large populations for almost 80 years. This model, which measures success by average response and frequently only helps a subset of patients, makes use of extensive, expensive clinical trials involving hundreds of patients. A few dozen genetic disorders that impact a large number of people may benefit from the conventional approach, but 10,000 other minor genetic diseases are definitely not.
We require a new paradigm, which I like to refer to as “genetic surgery” or “interventional genetics”—a combination of medication development and surgery. Patients as well as the FDA would gain from this new model, since the U. A. determines how to cut costs and modernize the way our government operates while also leading the world in scientific and medical innovation. This model could lead to an FDA 2.0, wherein the agency’s public health mandate includes providing patients with safe and quick access to life-saving technologies, regardless of how few people are impacted.
The revolution that has occurred in many other areas of our lives has not been matched by the system of drug development and access. With the help of recent scientific discoveries, we can now pinpoint the underlying causes of illnesses and develop much more effective hyper-targeted therapies. However, this degree of diagnostic accuracy inevitably divides diseases into ever-tinier groups, necessitating thousands of medications for a small number of individuals.
Mila, my daughter, marked the beginning of this new paradigm. She grew up laughing, singing her favorite songs, running around, and climbing and skiing in Colorado. However, she began to lose her vision, her ability to speak, her ability to walk and eat, and she experienced up to 30 seizures every day between the ages of 4 and 6. Before my eyes, my once-healthy, gregarious little girl quickly deteriorated. Mila had a form of Batten disease, a deadly condition that affects only 25 children worldwide, according to genetic tests conducted after years of innumerable doctor and therapy visits in pursuit of a solution. According to what I was told, she would eventually lose all of her abilities before passing away. My life as I knew it came to an abrupt end.
Despite having lost so much, Mila continued to laugh and smile, so I told myself, “If she can fight, so can I.”. I immediately established a foundation, gathered scientists, raised millions of dollars through the sale of lemonade and cookies with the help of kindhearted people worldwide, and fought against the clock with doctor Tim Yu and his team at Boston Children’s Hospital’s Division of Genetics and Genomics. We were informed that we would have no hope for ten years, but a year later we relocated to Boston, where Mila made history by getting the first medication that was truly tailored to her needs.
Her seizures initially stopped, and she sat up straight, raised her legs, and resumed eating by mouth. Above all, she smiled and laughed again, which had started to wane. Mila passed away a few years later at the age of ten, however, because her medication arrived too late.
There was nothing we could do for kids like Mila until recently. We had trouble even locating them, much less caring for them. That has all changed, though.
According to new FDA Commissioner Marty Makary’s book “Blind Spots,” it is challenging but necessary to challenge the status quo in medicine. Although we are holding onto the conventional methods that patients have used to obtain medications, the current situation is neither effective nor appropriate. History has demonstrated that when a moral imperative is present, significant deviations from the past are possible. Tens of millions of children worldwide are dying from genetic diseases today, and that is precisely what we are dealing with. Only a handful of children have received customized medication in the seven years since Milan, but many of them have experienced a significant decrease in seizures, an improvement in mobility, and in certain situations, little to no further disease progression due to early intervention.
By identifying baby KJ at birth and treating him at just six months old—possibly in time to halt his illness—Kiran Musunuru and Rebecca Ahrens-Nicklas have advanced our cause even further. However, KJ needed a medication that was specific to him, just like Mila.
Now that personalized medications are becoming a reality, we need a system that can adapt.
What might that look like? In the highly individualized domains of surgery and transplantation, for example, physicians must evaluate each patient on an individual basis, carefully balancing the risks of intervention against the risks of inaction. In order to treat a single child who is dying, surgeons must act quickly and cannot wait years for multiyear clinical trials and approvals. They frequently confer with the family and their coworkers within weeks, going over possible advantages and disadvantages. Finally, if it is decided to proceed, they take out the scalpel and make the cut.
Even though creative solutions have risks—often significant ones—the risk of doing nothing is frequently death. With clear guidelines, surgeons can try better methods that frequently become the new standard while still giving themselves just enough freedom to do what is best for each patient, benefiting patients everywhere. All of this is covered by an accreditation system, where a required degree of individualization is permitted while safety is guaranteed by strict standards and procedures.
The FDA should strive for proportionate regulation in order to establish a genetic surgery system, rather than approving a single medication at a time. Data and information sharing would be given top priority under this system, enabling frequent standard and innovative advancements. Individualized, secure, and quick intervention would be possible if medications were created and administered in accordance with established procedures and standards. A crucial change would be to tie reimbursement to medications that adhere to the new system’s approved procedure. This would encourage businesses to collaborate with hospitals in creating customized medications on a large scale, giving a vastly greater number of patients who are compatible with modern technologies access to potentially life-altering therapies. Instead of raising millions of dollars and spearheading drug development, families would be directed to a treatment facility by their child’s physician, where a medication may already be commissioned or available.
If we can successfully implement a new system, we can start to address the global health crisis by providing exponentially more children with early access to targeted treatments, ensuring that they and their families never experience illness. A new marketplace of businesses creating thousands of customized medications, fewer inpatient hospital stays and prescription drugs, physicians treating patients rather than providing palliative care, and more productive members of society are all possible outcomes. Additionally, every patient will believe that they have been granted the right to securely utilize the technologies that are currently available, regardless of how limited those technologies may be. We will leave hundreds of thousands of dying children in the United States if medical technology keeps developing at this rate and the regulatory framework doesn’t keep up. S. . It is an unacceptable reality.
Mila’s mother, Julia Vitarello, is the founder/co-founder of the N=1 Collaborative, EveryONE Medicines, the first and only company dedicated to personalized medications, and Mila’s Miracle Foundation.
