A research team at the University of Cincinnati and Cincinnati Children's Hospital Medical Center reports early success in mouse models at treating creatine transporter deficiency (CTD), a form of autism spectrum disorder that results in severe cognitive impairment.

The team, led by Joe Clark, PhD, a professor of neurology at UC, published its findings online July 2, 2012, in the Journal of Clinical Investigation.

CTD affects about 50,000 boys in the United States. The disorder is caused by a mutation in the creatine transporter protein that results in severe speech deficits, developmental delay, seizures and profound mental retardation. Linked to the X chromosome, CTD primarily affects boys. Women are carriers who can pass the mutation to their sons.

The team treated genetically engineered mice with cyclocreatine, a creatine analog used in cancer chemotherapy.  The treatment successfully reversed the mental retardation-like symptoms in the mice, with benefits seen within nine weeks and no observed harmful effects.

The University of Cincinnati has an agreement with Lumos Pharma, a Texas-based startup company, to develop and commercialize the compound. Human clinical trials could begin in about three years, Clark says.

In addition to Clark, study team members are Yuko Kurosawa, PhD (UC); Ton de Grauw, MD, PhD (then at Cincinnati Children’s, now at Emory University); Diana Lindquist, PhD (Cincinnati Children’s); Victor Blanco, PhD (UC); Gail Pyne-Geithman, DPhil (UC); Takiko Daikoku, PhD (Cincinnati Children’s); James Chambers, PhD (UC); and Stephen Benoit, PhD (UC).