Massimo's Leukodystrophy Mission has commenced
Massimo’s Mission, a clinical and research program in childhood leukodystrophies has commenced.
Leukodystrophies are genetic disorders that affect the white matter or wiring of the brain and spinal cord.
They often result in severe symptoms, including loss of motor skills, which produces significant disability and may shorten life.
The Federal Health Minister, Greg Hunt announced a commitment of $3 million over three years to fund a research consortium to “close the loop from genetic diagnosis to clinical treatment” for leukodystrophies.
The announcement was made on the one-year anniversary of the passing of Massimo Damiani who had a rare form of leukodystrophy known as HBSL.
The cause of Massimo’s Leukodystrophy was found in 2011 through a collaboration between the Royal Children’s Hospital and the University of Queensland together with collaborators from the Netherlands and the USA.
At that time, Massimo was the first patient in the world to have a novel genetic disorder diagnosed through the use of trio whole genome sequencing, where his entire genome was compared to that of his parents, Stephen and Sally Damiani.
Stephen and Sally have always been at the forefront of raising funds for research and advocating for children with leukodystrophies.
Massimo’s Mission is being led by Associate Professor Richard Leventer from the Royal Children’s Hospital (RCH), the Murdoch Children’s Institute (MCRI) and the University of Melbourne Department of Paediatrics, together with Dr Cas Simons from the MCRI, Professor Ernst Wolvetang from the University of Queensland and Professor Matthias Klugmann from the University of NSW.
It is being administered through the Leukodystrophy Flagship of the Australian Genomics Health Alliance.
The research begins with patient recruitment for genomic diagnosis, moving to disease modelling and pre-clinical testing with the promise of human clinical trials for novel treatments.
A dedicated Leukodystrophy Clinic has just commenced at the Royal Children’s Hospital / Victorian Clinical Genetics Services, and with funding from Massimo’s Mission has been able to employ a clinical geneticist, research coordinator and post-doctoral scientist.
The RCH / MCRI have been recognised as a Clinical Centre of Excellence amongst the leading centres internationally which make up the Global Leukodystrophy Initiative.