The Australian Leukodystrophy Clinical and Research Program
What is the study about?
The study aims to classify and understand the causes of white matter disorders and to develop a better means of diagnosis and treatment. The study is using genomics to provide more diagnoses and establishing a national registry.
The team is part of the Global Leukodystrophy Initiative (GLIA), a team of investigators from around the world determined to understand these conditions better and improve the lives of affected patients and their families.
The project has been named in honour of Stephen and Sally Damiani’s son Massimo Damiani, who had an extremely rare form of Leukodystrophy.
The study builds upon the Australian Genomics’ Leukodystrophy Flagship to accelerate its research.
What is a leukodystrophy?
Leukodystrophies are disorders of the white matter or cabling networks of the brain. There are many types of leukodystrophies with variable clinical outcomes including developmental delay, muscle spasticity and occasional problems with the peripheral nerves to the legs and nerves to the eyes. Some leukodystrophies are mild and static, whilst others are progressive and degenerative.
It is presumed that the majority of leukodystrophies are caused by genetic disorders, yet the precise genetic cause can only be found in ~50% of patients.
Who can take part and what does participation involve?
Both children and adults with a leukodystrophy or white matter disorder can take part in this study. If there is suspicion that you or your child has one of these conditions but have not been officially diagnosed please still feel free to register and we will contact you to discuss further.
- Collection of medical records for registry
We will collect medical information about you/your child for the registry. We will collect this information from your/your child’s medical records and/or treating team.
- Sample collection if having genomic testing
We may ask to collect a blood or saliva sample to undertake the testing.
Sometimes it is helpful to use other types of samples like a urine sample or a skin biopsy. You do not have to agree to these samples being collected in order to participate in the study.
Follow the button below to register your interest:
How can I find out more?
Download the documents below for detailed study information. The table on Page 3 of the information statement summarises what samples are required and what samples are optional.
If you have any questions about the study please contact the project coordinator Eloise Uebergang on 03 8341 6382 or Eloise.firstname.lastname@example.org
- Prof Richard Leventer, Murdoch Children’s Research Institute & The Royal Children’s Hospital
- Dr Cas Simons, Murdoch Children’s Research Institute
- Prof Ernst Wolvetang, The University of Queensland
- Prof Matthias Klugmann, University of NSW
- Dr. Chris Love, Murdoch Children’s Research Institute
- Dr. Chloe Stutterd, Victorian Clinical Genetics Services
- Dr. Dominik Froehlich, University of New South Wales
- Dr. Mohammed Shaker, University of Queensland
- Dr. Victoria Rodriguez-casero, Royal Children’s Hospital
- Dr. Nicholas Smith, Women’s and Children’s Hospital
- Ms Eloise Uebergang, Murdoch Children's Research Institute
Funded by the Medical Research Future Fund.