Cincinnati Children’s researcher Lubov Timchenko, PhD, is collaborating with a biopharmaceutical company in the United Kingdom on a historic clinical trial for congenital myotonic dystrophy type 1 (CDM1). The Phase 2 trial, sponsored by AMO Pharma, is the first sponsor-led clinical study evaluating an investigational therapy in this patient group as part of an ongoing drug development program.

CDM1 causes progressive muscle weakness and cognitive and developmental challenges that can be especially severe in younger patients. The AMO Pharma study is based on two published myotonic dystrophy findings from Timchenko’s lab:

• The enzyme GSK3ß, when inhibited, can reduce muscle myopathy, myotonia and weakness in mice that have the mutation for DM1
• The correction of GSK3ß activity in the mouse model reduces DM1 muscle atrophy

Timchenko used several inhibitors of GSK3 in these preclinical studies of DM1 and CDM1, including the GSK3β inhibitor tideglusib, which had previously been investigated as a potential treatment for a number of other diseases, including Alzheimer’s. AMO Pharma acquired tideglusib in 2014 and is investigating the safety and efficacy of tideglusib in a clinical study in CDM1. Timchenko is leading further pre-clinical investigations of CDM1 using tideglusib. These studies are supported by funding from AMO Pharma via a sponsored research agreement grant. Timchenko is a consultant to AMO Pharma.

The CDM1 study by AMO Pharma involves a 14-week treatment period to investigate the efficacy of tideglusib in treating young adults with CDM1. “We are hoping that the inhibitor will correct GSK3b levels in patients with CDM1 and will reverse symptoms of the disease.” Timchenko says. “This is such an exciting step for our research, and we are hopeful that it leads to the first-ever treatment for patients with this devastating disease.”

Preliminary study results are expected in 2017. Meanwhile, Timchenko continues to conduct research that explores new therapies and prevention strategies for CDM1 and DM1. In October, Cincinnati Children’s co-sponsored the region’s first conference for patients with DM1 and their families. Held at Cincinnati Children’s, the event featured speakers and opportunities for patients and families to connect with one another.