Research Strategy

Research Strategy

Our Research strategy includes overall principles and criteria to guide prioritization of the research focus and identify specific areas of priority. 

Our Research Strategy aims to:

  • Define Key priorities for future research for Classical Homocystinuria (CBS deficiency); and
  • Guide prioritization and evaluation of research grants funded by HCU Patient Community Groups. 

Key Focus Areas

Several areas of unmet need in the diagnoses and management of Classical Homocystinuria have been identified through advice from academic researchers and clinical experts. We have defined 3 key priority focus areas for future research and patient advocacy:


We expect our near-term Research Strategy to focus primarily on advancement of new treatment modalities, in order to maximize the benefit to patients and lesson the burden of strict dietary control. We will use 3 guiding criteria for prioritization and evaluation of research grants. 

  • Potential risk/benefit of approach to improve patient care
  • Probability research in this area would move forward without funding by HCU Network Australia and HCU Network America (HCUNAs). Lower priority placed on area if industry funding is available.
  • Probability funding a project in this area would contribute significantly to progressing research in this area, including potentially attaining proof of concept to motivate industry funding. 


HCU Network Australia and HCU Network America have agreed to collaborate in specific areas that we can benefit from global perspective and coordination. One such area is to promote research for Classical Homocystinuria, which is supported by a global Scientific Advisory Board. Over time, we hope to include patient groups from other countries and be able to expand focus beyond classical homocystinuria to include cobalamin deficiencies and methylation disorders that also cause elevated homocysteine levels.