The X-linked disorder Creatine Transporter Deficiency (CTD) was initially described in 2001, but is thought to be the second most common cause of X-linked developmental disability after Fragile X Syndrome. The disorder is caused by mutations in the SLC6A8 gene, with males experiencing more severe symptoms, generally presenting with developmental disability, affecting speech, seizure disorders, and behavioral issues. As a result, many are misdiagnosed with autism. Because patients with CTD lack a creatine transporter, creatine supplementation alone does not improve clinical outcomes, and the disorder has currently no accepted standard of care.
The Austin-based startup Lumos Pharma is focused on developing novel therapies for patients with unmet medical needs in rare and neglected diseases. Their lead compound, LUM-001, is a novel treatment for CTD that is a kinetically similar analog of creatine. The repurposed small molecule, previously studied for use in a solid tumor indication, has a strong safety profile and shown promising therapeutic potential in preclinical models. Unlike creatine supplements, LUM-001 has shown to cross the blood-brain barrier, significantly improving cognitive function, memory and novel object recognition tests. The drug has been granted orphan status by the FDA, giving Lumos the opportunity to take advantage of clinical and regulatory shortcuts to get approval.
Lumos Pharma is an amazing example of how repurposing drugs can deliver therapeutic opportunities, especially for rare diseases with unmet medical needs. The drug has huge potential in treating CTD-patients with severe developmental delays, which currently have no treatment. If diagnosed early, they may even have a chance of normal cognitive development, transforming the debilitating disorder into a chronic manageable disease. It could significantly improve quality of life for thousands of people around the world living with the disorder, as well as their caregivers.
Looking to build a rare disease pipeline, the Austin-based company have other programs moving closer to clinical testing as well. One exciting therapeutic opportunity is centered on lymphangioleiomyomatosis, a rare progressive, systemic disease that results in cystic lung destruction, predominantly affecting women.
The startup recently raised $34 million in a Series B round that will allow them to begin clinical trials. The financing was led by Deerfield Management Company, and joined by new investors Clarus Ventures and Roche Venture Fund, as well as existing investors New Enterprise Associates, Santé Ventures, and the Belgian pharmaceutical company UCB. A year ago, Lumos also received an award of up to $5.5 million from the Translation Fund of the Wellcome Trust, a biomedical research charity based in London that aim to develop innovative and ambitous new technologies with an unmet healthcare need.