Category: Uncategorised

Remembering Prof.Jan Kraus

Professor Jan Kraus passed away on the morning of July 4th after a battle with cancer.  The research of Professor Kraus focused on propionic acidemia and classical homocystinuria.  He dedicated his professional life to the understanding, diagnosis and treatment of classical homocystinuria and proprionic acidemia. Professor Kraus was recognised internationally as a brilliant scientist and considered by many as the “Father…

Third International Patient Expert Meeting Rome 2019

What a fabulous meeting we had at the Third International Homocystinurias Patient Expert Meeting in Rome.  The program was packed with the latest research, clinical care and dietary management for these disorders.  We are most grateful to the researchers, clinicians and dieticians that attended and for their willingness to spend time and share their knowledge…

First HCU patients treated in Phase 1/2 of OT-58

Orphan Technologies, a company dedicated to helping patients control their homocysteine levels, has announced that the first patients with classical homocystinuria have been treated in a Phase 1/2 clinical trial of OT-58. OT-58 is a novel, recombinant enzyme therapy designed to reduce plasma and tissue homocysteine levels. We are fortunate to have both Dr. Marcia…

Clinical and Basic Investigations of MMA and related disorders

The National Institutes of Health (NIH) sponsored research study named Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them. Dr. Venditti and his research team…

MEDIA RELEASE: First recipient of the CBS deficiency global grants program released

A very big congratulations to Professor Maclean of the University of Colorado School of Medicine who has received a Research Grant from HCU Network Australia together with HCU Network America to explore new strategies for improving treatment of homocystinuria due to CBS deficiency and remethylation defects. Read more below. MEDIA RELEASE FOR RELEASE: 25 January 2019…

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.