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 developing novel therapies to dramatically improve the lives of patients suffering from rare disorders. OT-58, our lead drug development candidate, has been optimized as an enzyme replacement therapy for classical homocystinuria, a genetic disease characterized by debilitating cardiovascular, skeletal, neurologic, and ophthalmologic complications. OT-58 is designed to reduce homocysteine levels via a targeted mechanism of action and may have therapeutic applications in other diseases. For more information, please visit www.orphantechnologies.com
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.
CMW SAÚDE is a company specialized in nutrition that offers the ideal solution in highly specialized niches, providing innovative products of recognized quality, with efficiency and professionalism. Our Mission is innovate permanently, bringing the best and most appropriate solutions in products and services to its customers through a highly motivated and qualified team. For more information:- www.cmwsaude.com.br.
A special thanks
Special thanks to Emerge Health for logistical support and Cambrooke Therapeutics and Nutricia for providing low protein food for the enjoyment of our guests.
Emerge Health is an innovative Australian pharmaceutical company focused on providing access to specialised medicines into the hospital sector. Emerge Health is dedicated to supporting patients in hospital care, striving to ensure continuous access to crucial medicines at sustainable prices. Our broad range portfolio consists of high quality products that include medicines used to treat rare diseases as well as various metabolic, paediatric and neonatal conditions. Our products are sourced from reputable global pharmaceutical manufacturers that comply with Good Manufacturing Practice.
For more information, please visit Emerge Health’s website at www.emergehealth.com.au.
Leaders in Therapeutic Medical Nutrition
Cambrooke Therapeutics was founded by Lynn and David Paolella in 2000, the parents of two children diagnosed with phenylketonuria (PKU), one of the few genetic diseases, which is managed almost entirely with nutritional intervention. The Paolellas’ goal in forming Cambrooke was simple – to develop improved nutritional therapeutic options for those that live with serious metabolic disorders.
Cambrooke produces medical formulas and low protein foods for the management of a variety of medical conditions and we are continually innovating new nutritional options targeted at a wide array of diseases.
- Cambrooke collaborates with academia and industry partners to transform early phase development projects in therapeutic nutrition into viable commercial products.
- Cambrooke employs scientific experts in the development, manufacturing and commercialization of nutritional therapeutics for patients with rare diseases.
- Cambrooke’s products are supported by clinical evidence for the nutritional management of medical needs before they are selected for commercialization.
- Cambrooke believes that both large and small patient populations are important when it comes to complex nutritional requirements.
Lynn Paolella is co-founder of Cambrooke Therapeutics and represents the heart and soul of Cambrooke’s mission. Originally inspired to feed her two children who have PKU, Lynn’s passion for feeding others keeps her at the forefront of food science and processing technology.
A recognized leader in the PKU community, Lynn continues to focus refining existing product formulations while working with the Cambrooke team to develop new and innovative product ideas. Amongst her roles, she serves as a support group liaison that provides support and patient advocacy while building strong metabolic community ties to both the families and the clinicians that serve them throughout the US and abroad. Her efforts on a national and international level keep her connected to leading researchers and health care providers in the rare disease space.
Nutricia Metabolics has been a pioneer within the metabolics category for more than 50 years. Our unique product range is designed to give healthcare professionals and patients the scope to select nutritional solutions that support specific requirements across every stage of life and fit in with individual needs. We are focussed on developing products that offer valuable improvements in dietary management, working with the latest scientific evidence and thinking. We are committed to improving the lives of those with inborn errors of metabolism by providing new, innovative and convenient products to help people with long-term diet compliance.
Beyond just products, our services including our home delivery and online resources, provide support for the management of metabolic conditions to make the lives of patients and their families a little easier.
At Nutricia Metabolics our vision is to be the trusted lifetime partner, providing innovative solutions for people with inborn errors of metabolism, inspiring them to reach their potential and fulfil their dreams.