Therapeutics development for pantothenate kinase-associated neurodegeneration (PKAN)

Therapeutics Development for
Pantothenate Kinase-Associated Neurodegeneration

Lay summary

For more than two decades, research has been underway to understand the biology of and develop treatments for PKAN, an ultra-rare genetic disease affecting children and adults. People with PKAN suffer from painful muscle spasms, stiffness, trouble controlling their movements, and blindness. The cause of PKAN is a mis-spelled gene that normally enables the body to use vitamin B5 to build other essential chemicals. Without a properly spelled gene, people with PKAN are unable to make those chemicals to preserve brain and eye health. Our work presented in this thesis has been focused on improving understanding of PKAN and the chemical pathways affected in this progressive disorder. We use that understanding to inspire new ideas to combat this chemical problem and potentially develop a treatment. Our work was provided hope for a way to bypass the PKAN problem, and we are currently focused on testing this idea in people with the disease.