Category: Uncategorised

Testing erymethionase in CBS-deficient mice

Erytech Pharma, a French clinical-stage biopharmaceutical company developing innovative therapies for rare forms of cancer and orphan diseases, has entered into a research collaboration with Fox Chase Cancer Centre (FCCC) to advance the pre-clinical development of the company’s erymethionase program for homocystinuria. The aim of the collaboration is to demonstrate the potential of erymethionase to…

Hike4HCU

On 25th February, Team HCU embarked on an unforgettable 4 day and 3 night trek along what has been described as ‘the finest walk in the world’ from Lake Te Anau towards Milford Sound. Despite the threat of relentless sandflies and the often unforgiving terrain, Team HCU completed the 4 day, 33.5 mile trek through…

ACNC Tick of Charity Registration

HCU Network Australia is proud to display the ACNC Tick of Charity Registration. When displayed, the ACNC Tick of Charity Registration provides reassurance that the charity is both transparent and accountable. By displaying the tick we hope to ensure public trust and confidence in HCU Network. To read more about the ACNC tick, please click…

International Rare Disease Day 2017

The 28 February 2017 marks the tenth international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities based on the theme of research.  To find out more visit rarediseaseday.org

Natural History Study of CBS Deficiency

Orphan Technologies Ltd is looking for male and female patients, between the ages 5 to 65 years, who have been clinically diagnosed with homocystinuria. Study Details: Purpose: To characterise the clinical course of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) in paediatric and adult patients under current clinical management practices. Name: A Multicenter, Observational, Prospective, Natural History…

Clinical Guidelines for CBS Deficiency

The European Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency, written as part of the European Network and Registry for Homocystinurias and Methylations Defects (E-HOD) project, are now published in the Journal of Inherited Metabolic Disease. The guidelines provide recommendations to health professionals involved in the diagnosis and management of CBS deficiency and are…

Orphan Europe’s New Infographic

Oprhan Europe’s HCU infographic video for Healthcare Professionals provides an overview of the epidemiology, pathophysiology, clinical manifestations and diagnosis of the rare disease. Due to the similarity of symptoms to other more common illnesses HCU is often overlooked. Click here to view the infographic video and more information about HCU.

CBS enzyme replacement therapy

Recent study suggests that CBS enzyme replacement therapy (ERT) is a promising approach for the treatment of homocystinuria caused by CBS deficiency. Read the full publication in The Journal of Clinical Investigation.

Thank you Burnside Lodge and Masonicare

We were delighted for the opportunity to present to the Burnside Lodge members this week about homocystinuria and the objectives of HCU Network Australia. We are extremely grateful for their generous support and tireless fundraising efforts. Warmest thanks, HCU Network Australia.

World Rare Disease Day 2016: A community for progress

HCU Network Australia was proud to jointly convene the international patient and expert meeting for homocystinuria and methylation defects in Prague on World Rare Disease Day 2016. The meeting was the first international event for individuals with these disorders. The meeting was opened by Professor Henk Blom (Freiburg, Germany), Professor Viktor Kozich (Prague, Czech Republic),…