Joint Research on Creatine Transporter Deficiency

Three groups have joined forces to find a treatment for creatine transporter deficiency, which results in severe speech and language impairment, short attention span, low IQ, and mental retardation. The participants are the University of Cincinnati (UC) Medical Center (OH, USA), the Cincinnati Children's Hospital Medical Center (OH, USA) and the Avicena Group, Inc. (San Francisco, CA, USA).

Earlier research by the UC Medical Center and Cincinnati Children's led to the discovery of a defect on the x chromosome housing the creatine transporter gene. They named this defect creatine transporter deficiency (CTD). Now the researchers hope to translate this knowledge into an effective treatment for the disorder. Although CTD affects both males and females, the severity of the diseases is increased in males because the defect is located on the x chromosome and males have only one. The disorder is currently identified by using either proton magnetic resonance spectroscopy obtained with magnetic resonance imaging (MRI), or by DNA analysis.

Research has shown that patients with low levels of creatine in their brain, with no defect on the gene for creatine transporter, may benefit from creatine supplements. In a clinical study, patients with creatine in their brains will be treated with high quality, ultra-pure creatine supplements provided by the Avicena Group in increasing dosages for several six-week periods.

"Our clinical research focuses on regulating cellular energy,” said Dr. Belinda Tsao-Nivaggioli, COO of Avicena. "Neurology is a major area of development for us, and we are delighted to be working with the UC and Cincinnati Children's to identify an effective treatment to overcome this genetic disorder.”