Completed Brain & Nervous System Digestion, Kidneys & Other Organs

Development of a small molecule therapeutic for the orphan disease Creatine Transporter Deficiency, an inborn error of metabolism and autism spectrum disorder.

Funder Wellcome Charity-funded
Recipient organisation Lumos Pharma
Funding £3.2M
Period Mar 2015 — Aug 2018

In plain English

AI plain-English summary

Children with Creatine Transporter Deficiency cannot produce enough creatine in their brains, leaving them with severe intellectual disability, speech delays, seizures, and autism-like behaviours. This matters because CTD is a rare, inherited metabolic disorder with no approved treatment. Current care is limited to managing symptoms. The underlying biochemical deficiency—a lack of creatine in the brain—remains uncorrected. Lumos Pharma is developing a small molecule drug designed to restore creatine levels, targeting the root cause rather than just the symptoms. If the drug succeeds through clinical trials, it could become the first approved therapy for CTD. For affected children and their families, this could mean measurable improvements in cognitive function, language ability, and seizure control. The company plans a Phase I safety study in 24 healthy volunteers, followed by a Phase IIa efficacy trial in 6 CTD patients, and a larger pivotal Phase IIb study. Success would also demonstrate that small molecule therapies can correct inborn errors of metabolism in the brain, potentially opening a path for similar treatments in related disorders.

View original technical description
Lumos Pharma will develop its small molecule therapeutic for the treatment of Creatine Transporter Deficiency (CTD). CTD is an inborn error of creatine metabolism and autism spectrum disorder. The primary clinical manifestations of the disease are moderate to severe intellectual disability, severe speech and language delay, seizures, and behaviors associated with autism. Lumos will conduct the nonclinical toxicology and safety pharmacology studies required to (i) open an IND and initiate clin ical studies, and (ii) garner regulatory approval and marketing authorization. These studies will include 7-day Dose Range Finding (DRF) studies in 2 species, 28-day GLP IND-enabling toxicology and 180-day and 270-day toxicology in 2 species. Lumos will also conduct clinical studies in humans. Lumos will first conduct a Phase I, 24 healthy volunteer study to assess safety and tolerability and to further characterize the PK profile of the compound. Second, Lumos will conduct a Phase IIa study in 6 CTD patients to examine efficacy, in terms of clinical improvement and correction of the underlying biochemical deficiency. A larger, pivotal Phase IIb will also be conducted. In regards to efficacy, Lumos will utilize a number of standard cognitive and validated assessment tools.

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Researchers

Richard Hawkins (EPMC Awardee)

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