Projects & Initiatives 2020 – 2021

Current Project:
CBS Deficiency Patient Information Booklet & Quick Guide

HCU Network Australia welcomes the publication of the Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. You can read the publication here. We are working to incorporate these guidelines together with other relevant information into a Patient Information Booklet for people with HCU to read and share with others.  This Booklet with be complemented by a 2 page Quick Guide to summarise the key messages from the Patient Information Booklet.

Current Project:
Experience of diagnosis and patient satisfaction survey

There is currently limited evidence showing the considerable length of time taken in some cases to reach a diagnosis of homocystinuria and the level of patient satisfaction regarding access to information, treatment options and medical care.  This survey is important to highlight the current situation and has been prepared in consultation with a Key Opinion Leader (KOL). The data collected in the survey is being prepared for publication in collaboration with the E-HOD consortium.

Current Project:
4th International Patient – Expert Virtual Meeting, 2021

The 4th International Patient – Expert Meeting will bring together leaders in the field of homocystinuria research, clinical care, nutrition and advocacy for a virtual conference in November 2021.  The organising committee includes:

  • Dr. Andrew Morris, UK
  • Prof. Henk Blom, Netherlands
  • Prof. Martina Huemer, Austria
  • Prof.  Viktor Kožich, Czech Republic
  • Tara Morrison, Australia

Ongoing Project:
Homocystinuria Data Collection Program

We aim to support the gathering, structuring and sharing of critical patient data that will accelerate diagnosis, disease understanding and development of future treatment and cures. We aim to use a data collection platform that is robust, standardized, and shared, with patients’ consent, as broadly as possible with researchers and industry seeking to develop new treatments and cures.

Ongoing Research Initiatives:
CBS Deficiency Research Grants

Several areas of unmet need in the diagnosis and management of classical homocystinuria have been identified through advice from academic researchers and clinical experts.  HCU Network Australia together with HCU Network America have defined 3 key priority focus areas for future research and patient advocacy.  The priority focus areas are:

  • Optimise current therapy
  • Optimise diagnostic process
  • Advance new treatment modalities

You can read our about our research initiatives here.