A malfunctioned gene, a blocked pathway, and a lifetime of neurological and behavioral problems. That’s the reality for about 42,000 people in the U.S. with creatine transporter deficiency, a metabolic disorder people are born with.
Austin, TX-based Lumos Pharma believes it has a therapy that could turn this debilitating disease into a more manageable condition.
“If we diagnose patients early enough and start them on our drug, they have a chance to have normal cognitive development,” says Rick Hawkins, Lumos’s founder and CEO.
Lumos is not quite ready to be part of a patient’s medicine regimen, but this week it announced it had raised $14 million in a Series A round from Sante Ventures and New Enterprise Associates. The company, which will add two to its current staff of three, plans to use the money to take its lead drug candidate into its first clinical trials.
Currently, creatine transporter deficiency, or CTD, is an inborn metabolic defect in the SLC6A8 gene in boys. “The gene transports creatine that we make in our pancreas,” Hawkins says. “This is the fuel for cells to do what they’re supposed to do.”
Children born without the transport gene have greatly reduced creatine levels, which result in IQs ranging between 10 and 40, no language development, and a high occurrence of seizures. “By the time they’re in their teen years, they get institutionalized,” Hawkins added.
The FDA has granted Lumos’s compound, LUM-001, orphan designation and the project has gotten funding and support from the National Center for Advancing Translational Sciences, NCATS, which is part of the National Institutes of Health. The company is working with NCATS’s Therapeutics for Rare and Neglected Diseases program, which provides in-kind support for rare disease drug development, including clinical and regulatory resources. Lumos was one of 14 proposals chosen out of 70 applications, Hawkins says.
Kevin Lalande, a managing director at Austin-based Sante Ventures, says, as an investor, he is particularly confident in the therapy because of studies that show improvement in patients whose creatine deficiencies come from their body’s inability to make creatine, not in transporting it. When given pharmaceutical-grade creatine, those patients can see cognitive improvements over time. So the key is to recreate a transport mechanism, Hawkins says, which is what scientists hope Lumos’s therapy can do.
Lumos’s technology had been developed by researchers at the University of Cincinnati and was previously developed for use in cancer patients. But human trials didn’t provide the outcomes researchers were hoping to find, and so the technology was parked in a California company’s tech portfolio. Lumos was founded in 2011 and has a two-way license with the Cincinnati-based university to repurpose the compound as a therapy for CTD. Trials in mice have shown reversal in mental-retardation symptoms, Hawkins says.
That evidence from animal studies, along with the orphan designation that provides monopoly status if Lumos can win FDA approval, creates an attractive opportunity, says Lalande, who along with Ed Mathers, a partner at NEA, will join the Lumos’ board of directors.
Hawkins is a rare disease specialist who brought to market Somavert, which is used to treat acromegaly, which is when the body produces too much growth hormone. CTD has only been diagnosed in the last decade with about 42,000 people in the United States being affected by it, according to the NIH. And Hawkins says Lumos’s efforts can help increase awareness and diagnosis of the disorder which falls along the Autism spectrum.
“There’s never been a treatment until now,” he says. “We hope this year to connect to the community, to make sure all of the genetic counselors, pediatric-neurologists, and all other clinicians who come in contact with this, begin the screening process.”