Why do we need research?
Increase Treatment Options
Good health outcomes for individuals affected by HCU rely upon treatment commencing in the newborn period and compliance to a strict low protein diet. Whilst it is undisputed that diet changes the course of the disease, it also impacts the quality of life imposed on both affected individuals and their families. All food contains protein and as a result the diet is extremely limited. Most foods cannot be consumed and those affected must rely on medically prepared food and supplements to guarantee sufficient nutrition.
Research indicates that as affected individuals age, particularly during teenage years, their compliance with the restricted diet diminishes.
Research is needed to improve treatment options so that dietary restrictions can be relaxed and the burden of the disease alleviated.
Improve Diagnostic Methods
When detected and treated from infancy, babies affected by Homocystinuria can reach their full potential. This is why newborn screening programs are of paramount importance. Current screening methodologies do not detect 100% of cases and inevitably cases are being missed. Accordingly better diagnostic methods are necessary to enable a greater number of cases to be detected and treated from birth.