Leigh Syndrome Roadmap Project (LSRP)
- Project status: Active
Research area: Genomic Medicine > Brain and Mitochondrial
Join our natural history study to advancing Leigh Syndrome research
We are conducting a natural history study in patients with Leigh Syndrome to collect health information to understand how the disease develops and progresses.
The data from natural history studies help researchers better understand a particular disease, identify potential treatments, and support medication development.
We are conducting a natural history study in patients with Leigh Syndrome to collect health information to understand how the disease develops and progresses.
The data from natural history studies help researchers better understand a particular...
We are conducting a natural history study in patients with Leigh Syndrome to collect health information to understand how the disease develops and progresses.
The data from natural history studies help researchers better understand a particular disease, identify potential treatments, and support medication development.
What is Leigh Syndrome?
Leigh Syndrome is a rare genetic disorder that affects the central nervous system. It is typically caused by variants in mitochondrial or nuclear DNA, leading to the degeneration of nervous system cells.
Symptoms often begin in infancy or early childhood and can include feeding problems, seizures, developmental delay, and breathing difficulties. In some cases, symptoms may not appear until adolescence or adulthood. Unfortunately, there is currently no cure for Leigh Syndrome.
Join the study
We invite individuals between the ages of 0 and 75 with a genetic diagnosis of Leigh Syndrome to participate in our study. Researchers will collect both objective and subjective assessments of symptom involvement.
Please contact us below for more information.
Funders and collaborators
The study is part of a larger collaborative project in Australia and internationally, including The Royal Children’s Hospital, Queensland Children’s Hospital, Women’s and Children’s Hospital, Sydney Children’s Hospital Westmead, and Perth Children’s Hospital.
The study is funded by the Mito Foundation and the United Mitochondrial Disease Foundation.
Contact us
Leigh Syndrome Roadmap Project
Murdoch Children's Research Institute
The Royal Children's Hospital
50 Flemington Road
Parkville VIC 3052
Australia
Madeleine Harris, Senior Project Officer
Phone:
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Email:
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