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MAY 2017 | Published by RCPA

Issue #069

New project ready to tackle mitochondrial disease diagnosis dilemma

New project ready to tackle mitochondrial disease diagnosis dilemma

(L-R) : Professor John Christodoulou, Professor David Thorburn , AMDF CEO Sean Murray

Diagnosing mitochondrial disease (mito) is challenging. The disease manifestations are broad, the diagnostic pathway isn’t standardised, and diagnostic tests are often invasive. Genetic testing is accurate and less invasive, but it has been mostly uncoordinated leading to inefficient diagnosis and unnecessary costs. The good news is a research project about to kick off in Australia is looking to change all of this.

The Mitochondrial Disorders Flagship, involving RCPA Fellows Professors John Christodoulou1 and David Thorburn2, is a collaboration between the Australian Genomics Health Alliance (AHGA) and the Australian Mitochondrial Disease Foundation (AMDF). The project is looking for the most effective way to diagnose mito by:

  • comparing the effectiveness and benefits of genomic testing to those of current testing methods
  • determining if genomic testing is a cost effective diagnostic tool
  • addressing issues that have plagued genomic testing for mito in Australia.

“Patients identified as fitting into the probable or definite mitochondrial disease brackets will be offered next generation sequencing,” explains Prof Christodoulou.

“Of these, half will be stratified to a combination of Whole Exome Sequencing and mitochondrial DNA sequencing, and the other half will be stratified to Whole Genome Sequencing, to compare these diagnostic methods for mito patients.”

AMDF CEO Sean Murray says mitochondrial disease lends itself to genetic testing because there are hundreds of genetic variations that cause the disease, it has a strong familial component, and it can follow any pattern of inheritance.

“AMDF got on board with this project because diagnosis is a critical issue for people with mitochondrial disease. A huge number of patients have clinical symptoms but no definitive diagnosis, and many patients undergo a difficult diagnostic odyssey. They have often seen multiple specialists seeking answers because mitochondrial disease can affect any organ and often masquerades as other diseases,” he explained.

Prof Christodoulou says the Mitochondrial Disorders Flagship will operate through a clinical network of specialists in every state and territory of Australia who have experience with paediatric or adult onset mitochondrial disease. He is confident of success based on similar models in other areas that recorded positive outcomes, such as the Melbourne Genomics Health Alliance Demonstration Project for Childhood Syndromes.

“We are hoping to help patients avoid the traditional invasive diagnostic pathway for mitochondrial disease. This usually involves a muscle biopsy and MRI scan under a general anaesthetic which increases the risk of complications for patients with mito, especially for children,” he explained.

Mr Murray said the trial addresses key needs in the mito community by improving the diagnostic process, supporting a community that often flies under the radar, and addressing the potential underdiagnosis of this condition.

The Mitochondrial Disorders Flagship is expected to run for two years and recruit about 200 patients. Prof Christodoulou says the results will be shared with the project’s clinical networks, and based on its health economics data, an application could be submitted to the Medical Services Advisory Committee for a Medicare rebate for genomic testing for mitochondrial disorders.

“Earlier diagnosis of mitochondrial disease has many benefits including ending a patient’s diagnostic odyssey, providing access to management pathways to alter disease progression, helping patients access support and plan for the future, and enabling young adult patients to make informed decisions about their reproductive options in the future” explained Mr Murray.

“We are expecting this project to have a very big impact for the mito community.”

Mitochondrial Disease Fact File

  • Mitochondrial disease can affect any organ, with any symptom, at any age.
  • It reduces the ability of the mitochondria (cell power houses that produce 90% of the energy needed to sustain life) to produce energy.
  • Mitochondrial disease can result in whole organ failure and potentially death.
  • 1 in 200 Australians carry the genetic mutations that put them at risk of developing mitochondrial disease.
  • Mitochondrial disorders are the most common inherited metabolic diseases. They affect more than one in 5000 births and encompass more than 250 disease genes.

[1] Professor Christodoulou is the Chair of Genomic Medicine at Murdoch Children’s Research Institute & The University of Melbourne co-lead of the Mitochondrial Disease Flagship with Professor Thorburn.

[2] Professor Thorburn is the Head of Mitochondrial Research at the Murdoch Children’s Research Institute.

Mitochondrial Disease was covered in the September 2013 edition of ePathWay.




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