Category: Uncategorised

Patient Information Booklet & Quick Guide

  HCU Network Australia is excited to announce the release of two new resources, the Classical Homocystinuria Patient Information Booklet and Quick Guide. These new resources were produced by HCU Network Australia as a part of our continued commitment to improve health outcomes through education, research and support.  The goal of these new resources is to…

The key to improving outcomes

An accurate diagnosis is the first step to improving the care and outcomes for those living with classical homocystinuria. In Australia, babies are tested at birth for classical homocystinuria, but newborn screening (‘heel-prick’) tests unfortunately do not currently detect all of the cases of the disorder.  If HCU is diagnosed in the newborn period and treatment is started soon…

Experience of diagnosis and patient satisfaction

 There is currently limited evidence showing the considerable length of time taken in some cases to reach a diagnosis of homocystinuria and the level of patient satisfaction regarding access to information, treatment options and medical care.  This survey is important to highlight the current situation and has been prepared in consultation with a Key Opinion Leader (KOL) in Europe…

Growth patterns in Irish B6 non responsive homocystinuria patients

At last year’s International Congress of Inborn Errors of Metabolism (ICIEM) Orla Purcell presented data on the growth patterns in the Irish pyridoxine non responsive homocystinuria patients and the influence of metabolic control and protein intake during the Poster Session.  The full article is now available to view here.

Early Detection is Key for Rare Diseases

Dr Tawfeg Ben-Omran, Senior Consultant, Paediatrics at Hamad Medical Corporations (HMC), says early detection of rare diseases like Homocystinuria (HCU) is key to successfully managing the disorder. HCU is a serious genetic disease characterised by long-term complications. When left untreated, HCU can lead to bone damage, vision problems, brain damage, and blood clots. Babies born…

Recap of 2017

On behalf of the team at HCU Network Australia, I would like to take the opportunity to wish you a very Merry Christmas and a happy 2018. As I look back on the past year I am immensely proud of what has been achieved by a small dedicated group of individuals.  Here are a few…

2018 CBS deficiency Research Grants

HCU Network Australia and HCU Network America are currently calling for Expressions of Interest (EOI) for research grants which provide funding for technologies to improve newborn screening and/or funding for potential new therapies to treat homocystinuria caused by cystathionine beta synthase deficiency. EOI deadline for submission 15 January 2018. To apply for a research grant…

A innovative treatment approach for classical homocystinuria

At the recent International Congress of Inborn Errors of Metabolism (ICIEM) Erytech presented pre-clinical data on it’s erymethionase program during the Poster Session.  The Poster Erymethionase, Methioninase Entrapped in Red Blood Cells: an innovative treatment approach for classical homocystinuria is now available to view here.

Developing an Enzyme Therapeutic for Homocystinuria

Matthew Bonem, et al. Poster presentation on developing an Enzyme Therapeutic for Homocystinuria.   A recent Poster shows the effect of administering homocystienase, an alternative enzyme (which is a recombinant version made from another human enzyme), that degrades homocysteine.