A Yale University professor has received a research grant worth $115,000 that could help lead to a treatment for PKAN, the second most common form of NBIA.
Choukri Ben Mamoun, Ph.D.,
Choukri Ben Mamoun, Ph.D., a professor of medicine (infectious diseases) and microbial pathogenesis at Yale, won the “Best Presentation” award in Yale Lifesciences PITCHFEST 2020 for his work on a possible treatment for Pantothenate Kinase-Associated Neurodegeneration (PKAN). That award prompted three NBIA patient organizations—the NBIA Disorders Association, Hoffnungsbaum e.V., in Germany and AISNAF in Italy—to collaborate on making the grant, in August.
Ben Mamoun also received the Blavatnik Award this year, which is awarded by the Blavatnik Fund for Innovation at Yale University to select projects after a competitive application process. The $300,000 award provides additional seed funding for the PKAN project.
The NBIA groups’ research grant to Ben Mamoun is titled “A High-Throughput Screen for PKAN Reversing Agents.” The goal is to look for small molecules that restore normal function in cells that are deficient in the PANK2 gene, which is impaired in PKAN individuals.
PANK2 directs the production of pantothenate kinase, which is involved in the execution of several essential biochemical reactions in the body. So, a drug that restores or mimics the function of the PANK2 gene could be effective in treating PKAN.
Ben Mamoun will look for small molecules to create a drug that can activate a second Pank enzyme to compensate for the loss of PANK2. The hope is such a drug could restore neurological function in PKAN individuals. The research also will evaluate the safety and efficacy of this novel treatment by conducting tests in the lab and in mouse models.
Previously, Ben Mamoun’s research focused on developing new antimicrobial compounds that do not inhibit human enzymes. Instead, Mamoun’s team discovered that their compounds not only inhibited the human enzyme but that nine of them activated it. That discovery fueled Ben Mamoun’s interest and opened up the possibility to treat PKAN by using the novel compound to activate the gene that causes PKAN.