The University of Colorado (CU) has signed an exclusive, worldwide licensing and collaboration agreements with Orphan Technologies to develop an enzyme replacement therapy for Cystathionine Beta-Synthase (CBS) -deficient homocystinuria.
The collaboration, which was started in 2010, will work under the guidance of CU School of Medicinepediatrics professor Jan Kraus and includes sponsored-research funding by OT to continue development of the treatment approach.
As part of the development, Orphan Technologies is planning to begin first-in-human trials in 2014.
Homocystinuria causes major multi-systemic disorder, including mental retardation, dislocation of the lens of the eye (leading to blindness if not treated), seizures, osteoporosis and stroke.
Jan Kraus said the therapy for homocystinuria concentrates on lowering the concentration of a single metabolite, homocysteine, while metabolites further downstream are unaffected by the available treatment.
"However, these downstream metabolites may be of considerable clinical significance, and our approach has the potential to restore all the affected metabolites to their normal level, and as such reduce or prevent symptoms and enable a return to a normal diet," Kraus added.
