Current Projects in brief
Patient Identification Campaign & Homocystinuria Disease Patient Registry
Patient registries are crucial for finding cures for rare disease as populations are small and geographically dispersed. The purpose of the Homocystinuria Disease Patient Registry is to organise and quantify the Homocystinuria community.
The registry will serve two purposes. At first instance, to unite the HCU community and provide a support network for affected individuals and families. A support network can alleviate some of the stress associated with both the diagnosis of HCU, and living with the disease. Secondly, the registry will provide the data to advance medical research for HCU and improve therapeutic development and quality of life for those living with HCU.
HCU Community Research
To compile a survey for both patients and relevant health professionals to obtain a complete perspective on the current state of treatments, compliance and reasons for non compliance, and research into HCU.
It is anticipated that the survey results will support the proposed need for reform in the funding of treatment, diagnostic methods and research. The survey will be used specifically to identify issues within the current system and support any future funding submissions. It will also be used to guide our organisation as to how we can best support affected individuals and families.
Smartphone App Development
We are working in collaboration with AccuGo for the development of an iPhone App to assist with the management and tracking of the low protein diet. AccuGo was initially designed to ease the day to day management of the PKU diet by providing a quick and easy was to track foods eaten.
AccuGo for HCU a service provided by HCU Network Australia will have the following features specifically for HCU management:
- Protein and methionine mode of tracking;
- Overview of day’s running total of protein/methionine at a glance;
- Historical graph showing totals over the past month;
- Automatic calculation of protein/methionine;
- Includes preloaded and searchable USDA based food items;
- Add own foods and values to the database;
- Community food list;
- Email daily food records by date range including a summary of average over the date range.
Research Grants & Travel Fellowships
It is our aim to encourage and support research into the disease including the translation of this research into the the clinical setting with the ultimate goal of improving therapeutic treatments.
Funding will be provided by way of research grants for new research projects aimed at improving the health and wellbeing of individuals affected by HCU. Annual awards for travel will also be awarded by way of travel fellowships to enable health care professionals to gain further knowledge in the area of HCU.
These opportunities will be dictated by fundraising capabilities.
YouTube “Question & Answer Time”
HCU Network Australia aims to launch a HCU Question & Answer Time on YouTube and also have these ‘interviews’ available to view on our website and distributed to newly diagnosed families. They are proposed to be a video series in which renowned metabolic specialists would answer the most commonly asked HCU questions in short videos.