Projects & Initiatives 2018 – 2019

Active Project:
CBS Deficiency Patient Information Booklet & Quick Guide

HCU Network Australia welcomes the recent 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.

Active 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) in Europe together with input from HCU Network America, to ensure the information gathered can be used globally to help support improved care for all homocystinuria patients. To complete the survey click here.

Active Project:
Smartphone App Development

In 2016, HCU Network Australia sponsored the development of an iPhone App to assist with the management and tracking of the low protein diet.  AccuGo for HCU continues to be a service provided by HCU Network Australia. We are working on an additional coordination Smartphone App to assist the HCU community with daily management of the disorder and easy access to reliable disease information.

Active Project:
3rd International Patient – Expert Meeting, Rome 2019

The 3rd International Patient – Expert Meeting will bring together leaders in the field of homocystinuria research, clinical care, nutrition and advocacy for a two day conference in Rome, Italy.  The organising committee includes:

  • Dr. Carlo Dionisi-Vici, Italy
  • Prof. Henk Blom, Netherlands
  • Prof. Ida Schwartz, Brazil
  • Tara Morrison, Australia

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.