The Patient-Expert Meeting is a collaborative venture organised by HCU Network Australia, the European Network and Registry for Homoystinurias and Methylation Defects (E-HOD) and the ICIEM local organizing committee. It is generously sponsored by HCU Network Australia, Recordati Rare Disease Foundation, Orphan Technologies, Erytech and Recordati Rare Diseases do Brasil.
HCU Network Australia
HCU Network Australia is a national, charitable organisation established in 2014 with a vision “to be a driving force in the journey to a cure, improving quality of life along the way”. This overarching vision informs the direction of HCU Network, inspiring and motivating all who are involved with its activities.
Our priorities are to:
- Connect and support people impacted by homocystinuria;
- Improve the diagnosis path to enable appropriate treatment;
- Provide education and information to people impacted by homocystinuria;
- Encourage and support clinical research, research for novel therapies and ultimately a cure; and
- Raise funds to achieve our objectives.
HCU Network Australia is governed by an Executive Committee. We are registered and classified as a Health Promotion Charity by the Australian Government. We are also endorsed with Deductible Gift Recipient (DGR) status by the Australian Taxation Office.
HCU Network Australia hopes to achieve meaningful progress for the HCU community and raise awareness of the unmet needs of those a affected by the disorder.
The Recordati Rare Diseases Foundation promotes the accurate diagnosis and care of patients affected by a rare disease. To achieve this, the Foundation facilitates the organisation of independent training and education in rare diseases; organised by healthcare professionals for healthcare professionals. It does this by:
- Providing up-to-date training on when to suspect a rare disease, diagnostics, clinical presentation, best care and current treatment strategies in order to improve rare disease recognition and management in the medical setting.
- Sharing experience in the management and outcome of rare diseases where individual experience is by their nature limited.
- Improving dialogue between different medical specialities, particularly in multi-system diseases.
- Strengthening scientific collaboration and encouraging research in rare diseases.
The rarity of patients and the high phenotypic heterogeneity of rare diseases, combined with the lack of knowledge, information and training result in frequent delays in correct diagnosis and installation of appropriate care and treatment. Teaching courses focusing on rare diseases are very sparse.
Junior doctors and scientists attending the foundation learn from the experience of renowned international experts and discuss cases that were previously a mystery to healthcare professionals entering the field. As a consequence they are more able to care for their patients with rare disorders.
In the more specialist and advanced courses, the sharing of information and experience improves recognition of rare conditions and ultimately improves the management and outcome of patients.
The Recordati Rare Diseases foundation’s goals and ambitions for the future are also an increased collaboration with patient associations, to contribute in reaching out and creating awareness, not only to healthcare professionals but also to patients and the general public.
Orphan Technologies is dedicated to creating life changing therapies for patients and care givers. We are committed to developing first-in-class therapeutics, surrounding our research and development with industry and academic thought leaders, and then investing efficiently to rapidly accelerate innovation to patients.
Our mission is to advance treatments for a portfolio of rare diseases, aiming to positively transform the lives of patients.
Quite simply, we put patients first. While innovative research and development is our backbone, we take the time to listen to what the patients and medical community are telling us. Basic research advances the field but our focus is on bringing therapeutics to patients that improve patients’ lives as quickly as possible.
We understand that developing first-in-class therapies requires collaborating with the medical community, academic researchers, and patient groups. Fostering long term partnerships to advance patient care is part of our DNA and we are always looking to expand our pipeline with new innovative products targeting rare and ultra-rare diseases.
ERYTECH is a clinical-stage biopharmaceutical company developing innovative therapies for rare forms of cancer and orphan diseases. Leveraging its proprietary ERYCAPS platform, which uses a novel technology to encapsulate therapeutic drug substances inside red blood cells, ERYTECH has developed a pipeline of product candidates targeting markets with high unmet medical needs.
Recordati Rare Diseases do Brasil is the subsidiary of Orphan Europe, an European company dedicated to provide innovative therapies for rare diseases, like Porphyrias, Cystinosis, Homocystinuria and Hyperammonaemia due to NAGS/CPS1 deficiencies among others.