Category: Uncategorised

Developing an Enzyme Therapeutic for Homocystinuria

Matthew Bonem, et al. Poster presentation on developing an Enzyme Therapeutic for Homocystinuria.   Enzyme replacement therapy (ERT) is a medical treatment which replaces an enzyme in patients where a particular enzyme is deficient or absent.  Usually this is done by giving the patient an intravenous (IV) infusion containing the enzyme. ERT does not correct the underlying genetic…

2nd International Patient – Expert Meeting 2017, Rio de Janeiro

HCU Network Australia was delighted to collaborate again with the European Network and Registry for homocystinurias and methylation defects (E-HOD) and it was a pleasure on this occasion to also partner with the Group for Health Technologies Assessment in Clinical Genetics at the Hospital de Clinicas de Porto Alegre (HTA Genetics/HCPA) to host the 2nd…

Seeking a cure for her son’s rare disorder

A Montana State University doctoral student seeking a cure for her son’s rare genetic disorder has won a fellowship that will let her quit the predawn paper route she took to make ends meet and concentrate on her research.  Read more here.

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.