Ataxia-Telangiectasia (AT) Study - Wesley Research Institute
Wesley Research Institute
Donate
Now

Ataxia-Telangiectasia (A-T) is a rare genetic disorder with an incidence of approximately three in one million births. Patients with A-T often end up in a wheelchair by the age of ten and have a life expectancy of 25 years. Approximately 40 children in Australia currently have A-T.

 

Research Objectives

Status

Current

Recruitment

Closed

Patient Group

Patients with Ataxia-Telangiectasia (AT)

Study location

Wesley Research Institute

Phase

2

Study type

Investigator Initiated

Lead investigator

  • Prof David Coman

Clinical trial coordinator

  • Sarah Harriman

Technical title

A Phase 2A/2B placebo-controlled randomised clinical trial to test the ability of triheptanoin to protect primary airway epithelial cells obtained from patients with ataxia-telangiectasia against death induced by glucose deprivation.

About this research project

This genetic disorder leads to ataxia; the inability to walk, talk and use fine motor skills because of the neurological impairment. A-T patients also suffer from cystic-fibrosis-like lung disease due to immunodeficiency as well as cancer accounting for a high death rate.

The symptoms of A-T are described as the ‘worst parts’ of cerebral palsy, cystic fibrosis and muscular dystrophy with a high risk of cancer and lung disease. There is unfortunately no effective therapy for this illness.

This study will investigate the use of Triheptanoin, a dietary fat supplement which has the potential to boost energy metabolism and significantly improve neurological symptoms. This trial has given families of patients the hope that they are able to have their children for longer by slowing down the progression of the disease.

 

Latest News

World-First ‘Back to the Future’ Research Set To Boost Pandemic Protection  

A world-first research project by two Queensland professors is set to offer a blueprint for developing more effective vaccines and therapies specifically tailored to safeguard the health of children and young adults in times of global health crises.  Spearheaded by Professor John Fraser, Dr Arutha Kulasinghe and Associate Professor Kirsty Short, this pioneering study, funded […]

Coeliac Research Network Night a Great Success

Last Thursday evening, on the 6th of June, the Wesley Hospital Auditorium saw a community of coeliac disease advocates come together to learn more about coeliac disease, and hear about the latest research, clinical trial updates and advocacy efforts within Wesley Research Institute Coeliac Disease and Immune Health Research Program.

AI Initiative Targets ‘Beeps and Bongs’ to Revolutionise ICU Care 

A research initiative aiming to leverage Artificial Intelligence’s capabilities to detect early signs of patient deterioration, especially in those undergoing mechanical ventilation, is receiving significant backing from the Wesley Research Institute. At the helm of this innovative project are Dr James Winearls and Professor John Fraser.
1 2 3 11
linkedin facebook pinterest youtube rss twitter instagram facebook-blank rss-blank linkedin-blank pinterest youtube twitter instagram