Tailored for Life: Exploring a Personalized Lifesaving Treatment – Is This the Future of Medical Care?

Luke Rosen and Sally Jackson were put in this predicament in 2016 after learning that their daughter Susannah had an extremely rare genetic disorder.

Their daughter, who carries a mutation in the KIF1A gene, was told she only had around five years left before the condition would start to affect her irreversibly. They met Stanley Crooke in sixth grade, who said he would create a medication specifically for Susannah.

Rosen, a former actor and firefighter from Long Island, New York, said, “We knew that Susannah could possibly and hopefully have a different life right on the verge of hopelessness.”

After a year of an experimental treatment, the outcomes are now even better than anticipated.

A rare genetic mutation on the KIF1A gene caused Susannah Rosen’s movement, vision, and seizure disorders from birth. The nine-year-old Susannah has been receiving a customized experimental therapy that appears to be having a substantial impact.

Leading the way in a new medical trend, Susannah specializes in therapy meant for a small number of patients, or perhaps just one.

Rosen, a former actor and firefighter from Long Island, New York, said, “We knew that Susannah could possibly and hopefully have a different life right on the verge of hopelessness.”

After a year of an experimental treatment, the outcomes are now even better than anticipated.

A rare genetic mutation on the KIF1A gene caused Susannah Rosen’s movement, vision, and seizure disorders from birth. The nine-year-old Susannah has been receiving a customized experimental therapy that appears to be having a substantial impact.
Leading the way in a new medical trend, Susannah specializes in therapy meant for a small number of patients, or perhaps just one.

He was a founding member of the global N=1 Collaborative, an organization that brings together hundreds of physicians, researchers, patients, and businesses to focus on personalized medicine.

Crooke, for his part, founded the nonprofit organization n-Lorem to develop medications for patients with extremely rare genetic illnesses. With enough medication, he hopes to treat thousands of patients in the end and help them all live much longer, healthier lives.

More than 230 patients have already applied for treatment at n-Lorem through their parents or physicians, with roughly two-thirds of them being children with dire prognoses. The sixth patient that the foundation will treat is about to be seen.

In a recent interview, Crooke stated, “One patient at a time, I hope to change the world.”

Challenges Bespoke Therapies Face

Spinal muscular atrophy was the first illness to demonstrate the value of ASOs. Dr. Wendy Chung recounts seeing infants deteriorate and pass away—half of them before they turn one year old.

After leading Ionis Pharmaceuticals for 27 years, Crooke developed the technology and directed it toward SMA. After receiving approval in late 2016, the medication nusinersen completely changed the course of the illness. The first patients are currently in their middle school years.

Yet, according to Chung, ASOs aren’t effective for all illnesses. It has shown great promise in treating neurological conditions such as SMA, but its efficacy against other diseases has not been demonstrated, and its potential for generalization is uncertain. “That’s where the catch is,” she stated.

Chung, who recently transferred from Columbia University to Boston Children’s Hospital, sees four primary obstacles with these customized therapies: matching the disease to the appropriate treatment; delivering the treatment to the appropriate location in the body; producing the treatment fast enough to yield benefits; and causing no harm during the process.

Chung conceded, “It’s complicated.” The ability to treat illnesses for which there have been no treatments up to this point, however, is “wonderful,” she added.

One of the main concerns with customized therapies is safety.

Patients with cancer and ultra-rare diseases may be the first to receive their exact treatment, in contrast to treatments for common diseases, which are tested on tens of thousands or even more people before being marketed.

Yu suggested that sharing data among those attempting this type of customized therapy be one approach to increasing safety.

The N=1 Collaborative, so named because there is only one participant in each drug study, aims to standardize data collection methods to facilitate easier sharing and analysis.

In a recent call, Yu stated, “We think aggregating all these cases will lead to important learnings.”

An ASO Yu created resulted in hydrocephalus, or fluid on the brain, in two toddlers with a fatal form of epilepsy. Yu had named the ASO valerian in honor of Valeria, one of the two girls, who passed away.

He believes that cutting the dosage will lessen the chance of hydrocephalus.

In 2020, during one of Susannah’s frequent hospital stays, Sally Jackson and her daughter Susannah Rosen were photographed. Her service dog, Pippin, is lying next to her.
But the risk cannot be completely eliminated.

Regarding the few patients at n-Lorem, Crooke remarked, “As of right now, we have a pristine safety record.” “My goal is to be able to say that five years from now, 10 years from now.”

Making a treatment that is effective quickly is arguably a greater challenge than making one that is safe.

For the young child Mila, whom he hoped to save with it, Yu created an ASO in 2017 that he called Milasen. Unfortunately, her Batten disease, which results in seizures, poor coordination, and blindness, had progressed by the time he found out about her condition and gave her the medication a year later. Despite the medication’s ability to lessen her seizures and enhance her quality of life, Mila passed away in February 2021.

With degenerative illnesses such as Susannah’s KIF1A and Mila’s Batten, the biological clock is ticking loudly. Brains and other nerve cells cannot be replaced once they are gone.

Crooke anticipates being able to make an ASO for a patient in 15 to 18 months by the end of the following year.

Yet, according to him, “an uncertain future is a heck of a lot better than a certain one.”

Read more on bespoke therapy stories here.