October 31, 2022

No patient left behind: creating one-of-a-kind therapies

By Amber Hoskins, Writer

The n-Lorem foundation is using antisense technology to build a better future for those with ultra-rare genetic mutations, one patient at a time.

One in a million. How often do we hope to be the one in that ratio? It’s a saying that usually sparks a sense of luck or good fortune, but for those with nano-rare mutations — diseases caused by mutations often unique to one individual — being the only one creates a rare obstacle when it comes to getting the right treatment. That’s why the work of Dr. Stanley T. Crooke and the n-Lorem organization is so life changing for those who face a diagnosis that affects very few.

Dr. Crooke and the n-Lorem Foundation

n-Lorem was founded by Stanley T. Crooke, M.D., Ph.D. in 2020. The demand for the organization’s work was instantaneous.

The n-Lorem foundation is the first nonprofit with a mission to create experimental antisense oligonucleotides (ASO) medicines for patients with nano-rare genetic diseases. These short strands of nucleic acids target mRNA and modify protein translation in a desired way to treat disease. "The [ASO] is the drug, and RNA is now the druggable target,” notes Max Moore, VP of manufacturing and operations at Ionis, in an episode of Cytiva’s Discovery Matters podcast.

n-Lorem uses ASOs to provide treatment to those with mutations known to exist in less than 30 people — offering hope to these small groups of people whose diagnoses are often hard to find and not always completely understood. A study posted to the National Library of Medicine notes that ASO medicines have made it possible to treat rare and genetic disorders that were ”previously deemed untreatable by conventional small-molecule-based therapies.” The n-Lorem foundation is doing just that — using ASO medicines to treat those considered previously untreatable.

Dr. Crooke comments, “We take the mutation that [the patient] has, we design a new medicine for it, and we try to get that to the patient within 15 months. And then we provide that medicine for free, for life.”

One of those patients is 13-year-old Connor.

Connor’s story

Just a few days after Connor was born, his mother, Kelley, began to notice things that weren’t typical of other babies — ”he wasn’t sleeping, he wasn’t eating well, and he was crying constantly,” she notes. As he got older, he started to suffer from daily seizures and began to need assistance with basic needs. By the time Connor was three, his neurologist felt there wasn’t much more to be done; Connor was placed on hospice services.

Ultimately, years later, Connor did receive a diagnosis: a mutation of a specific gene that, when fully functional, regulates many functions in the body. Except the mutation was so rare, the disease didn't have a name, or a treatment, to manage it. And then Kelley crossed paths with Dr. Crooke — a meeting that would forever change Connor’s hope for the future. Inspired by Dr. Crooke’s work and foundation, Connor became one of n-Lorem’s first applicants. Now, he eagerly awaits his therapy from Dr. Crooke's team at n-Lorem who are developing the specialized ASO and working to have it approved for investigational use. Connor hopes to receive his therapy in 2023.

“Anything is possible,” noted Kelley, “We’re here with n-Lorem, with a potential treatment that could completely change everything about his quality of life:” A concept that contrasts what they were told throughout their journey to find treatment prior to n-Lorem.

As of October 2022, n-Lorem has received more than 160 submissions and has more than 70 patients accepted into its programs. For his innovation on antisense oligonucleotide therapeutics and his dedication to patients around the world, Dr. Stan Crooke was recently awarded the Roy Vagelos Pro Bono Humanitarian Award.

Cytiva’s commitment

Encouraged by n-Lorem’s mission and alignment of values regarding advancing health and society, Cytiva's corporate social responsibility plan began supporting the n-Lorem foundation in 2021. Cytiva has provided the foundation with a donation of equipment used in the development and manufacturing of n-Lorem’s investigational ASO medicines. n-Lorem is now using two donated ÄKTA™ systems to develop their personalized therapies: the ÄKTA oligopilot™ synthesizer, which produces the antisense sequence — the active pharmaceutical ingredient used to treat n-Lorem patients — and the ÄKTA pure™ protein purification system, which purifies the drug material.

To learn more about Cytiva’s commitment to the n-Lorem foundation, click here.