The University of Colorado Boulder’s 10th annual GoldLab Symposium culminated with the inspirational story of Mila’s Miracle Foundation (MMF) as told by Julia Vitarello, Founder and CEO of MMF, and Dr. Timothy Yu M.D., Ph.D. Local resident Vitarello and Boston-based Yu used a tag-team presentation to describe a profound scientific breakthrough in personalized medicine for Vitarello’s daughter Mila, and its far-reaching implications.
Larry Gold, CU professor of molecular cellular and developmental biology and the founder of GoldLab Foundation, said he chose Vitarello and Yu for the symposium’s final presentation because, “Their story is both about people who refused to quit, so it’s a hero story, and there’s this extraordinary science.”
The journey began when, after three years of seeking an answer for what was causing Mila’s increasingly regressive neurological symptoms, Vitarello and her husband Alek Makovec were told that Mila had Batten Disease. Batten is an ultra-rare neurodegenerative disease that slowly steals a child’s vision, motor and language skills around age three, and eventually leads to death before adolescence. Considering this as a certainty was not an option to Vitarello.
With no expertise in either medicine or raising funds, Vitarello plunged head first into the world of science and private foundations. Since 2016, Mila’s Miracle Foundation has raised $3 million. Initially the foundation was intent on developing a novel gene therapy for Mila's type of Batten Disease, CLN7.
The GoldLab presentation however, focused on a change in direction for the foundation and the significant consequences of that new path. A plea in early 2017 to help determine the second half of the mystery gene mutation in Mila came to the attention of Yu, a neurologist and geneticist at Boston Children’s Hospital, thanks to a Facebook post his wife felt compelled to show him. Yu’s reaction was immediate; he offered the family the assistance of his lab. Within a month, the necessary whole genome sequencing uncovered Mila’s mutated genes.
Yu’s team discovered Mila had extra “jumping” DNA, which created a nonsensical code. Yu’s assistance didn’t end with a diagnosis, which unfortunately is most often the case. His knowledge of Antisense Oligonucleotide, which had worked successfully on another rare disease with parallels to Mila’s, led Yu to believe that the synthetic nucleic acid could be effective in blocking Mila’s interloping DNA and could restore normal gene function.
Yu said “We were hoping to get from our proof of concept and clinical evaluation stage, through manufacturing, testing, animal studies, and into a patient in only four months.” The audience chuckled knowing that timeline was unbelievably speedy. “As you can tell, we were naïve, and we had no business trying to do this” Yu continued.
But that naiveté likely kept them on the path toward what others would have concluded was impossible.
In record time, Yu’s team created the drug they’ve named Milasen. It’s a personalized medication designed to hide Mila’s genetic mutation. The odyssey of testing Milasen in a multitude of ways and working toward Federal Drug Administration (FDA) approval was nothing short of a suspense novel, especially as Mila’s illness suddenly hit a critical point.
Science was one huge piece of the puzzle, but allowing it to be applied was the next enormous step. The FDA approval process is arduous, and for Mila, accelerating that course was of imminent importance. Yu acknowledged the help of experts, who with their decades of experience, helped guide the medication down the path to Mila.
The level of precision at every step was onerous and even a vial label that would meet FDA requirements was tirelessly negotiated at the last moment, allowing a mere 18 grams of the precious medication to be shipped to Boston Children’s Hospital.
Ten months after the diagnosis of Mila’s genetic mutation, Mila and her family went to Boston to begin the treatment everyone hoped would save her life.
Milasen was first injected into Mila’s spine in January 2018. Following additional rounds of treatment, Yu and Vitarello report more than just a leveling off of symptoms. There have been measurable improvements and no adverse effects. Seizures have been greatly reduced. Mila eats solid food again and stands, walks, and sits up with less assistance.
More importantly, Mila is back — laughing, listening and responsive. Vitarello is cautiously optimistic after seeing how precipitously the disease had progressed just prior to treatment. She is determined to fight alongside Mila every step of the way.
While the high percentage of deaths caused from cancer and cardiovascular diseases has led to scientists working on cures and medications, an array of nearly 10,000 rare diseases, each variant affecting a small population of sufferers, makes finding cures less economical, so pharmaceutical companies are not working to help the Milas of the world.
The collaboration of Yu, Vitarello, FDA experts, the drug manufacturing company, and so many more stakeholders was remarkable. That template and its possibilities justify being optimistic about future endeavors. Making this process “repeatable and scalable” could save up to 240,000 patients with rare diseases according to Yu’s estimations.
“Even as a drug for one patient I think it has some really interesting implications,” Yu said, “and I’m going to challenge the audience to think of other applications.”
GoldLab Symposium’s initial mission was to help lay people and those who are science-oriented gain a basic understanding of healthcare. Over the years, the program has begun to encompass societal and cultural issues as well. This year five hundred people attended the symposium.
Gold said, “It’s really aimed at making the dialogue between science and nerd types like me, and those people who want to help, easier.”
To watch Vitarello and Yu's full presentation at the 2019 GoldLab Symposium, visit www.youtube.com/watch?v=Tqgu-ka3Z3A&feature=youtu.be
For more information on GoldLab Symposium and to watch videos of past speakers, visit, www.GoldLabFoundation.org. Attendance to the symposium is free and next year’s conference will be held May 15-16, 2020.