In this quarterly newsletter, we hope to provide Leigh syndrome families and other stakeholders information about the Leigh Syndrome International Consortium, the latest news on research and resources we’re funding, and spotlight some of the patients in our community who are valiantly fighting this disease. If there is additional content you’d like to see, or questions you want answered, shoot us a line at email@example.com.
In this fight together,
Leigh Syndrome International Consortium Governance Committee members
Did you know?
Since the inception of the Leigh Syndrome International Consortium in 2018, we’ve received a number of questions about the organizations involved and the goal of the collaboration. We hope these Frequently Asked Questions will provide better insight into who we are and what we’re working hard to accomplish.
The Leigh Syndrome International Consortium unites the world’s leading scientists, clinicians and mitochondrial disease patient advocacy groups under a collaborative and inclusive approach to drive research that will advance the understanding of Leigh syndrome, uncover effective treatments and ultimately find a cure.
Natural History and why it’s important: An interview with Dr. Bruce Cohen, M.D., FAAN
Collecting natural history is a focal point for the Leigh Syndrome International Consortium.
What is natural history?
The textbook definition of natural history is the usual course of development of a disease or condition, especially in the absence of treatment.
We asked Bruce M. Cohen, MD, FAAN, Pediatric Neurologist and Director of the NeuroDevelopmental Science Center at Akron Children’s Hospital, to expand on the importance of natural history and its role in the understanding of any condition or disease.
“The natural history of any disease in a general sense is the description of the disease or condition onset, progression and outcome from the observational vantage, not involving investigation. Natural history may include medical intervention as ‘best available therapy,’ but again from the observational viewpoint".
What may appear obvious is that natural history is easier to define in common disorders involving thousands or hundreds of thousands of people per year and conditions and disorders that have single organ system involvement. Examples include appendicitis, heart attack, small cell lung cancer, and pregnancy. Furthermore, conditions with a beginning and end that are close together such as stroke, heart attack and lung cancer have a much easier natural history to track.
For Leigh syndrome, we are still trying to define the age of onset, patterns of deterioration, patterns of stability, events that could result in deterioration, genetic classification that result in Leigh syndrome, potential benefits of early gastrostomy tube placement, potential benefits of early tracheostomy, percentage of those with kidney or heart or liver and/or many other important features.”
The Leigh Syndrome International Consortium has already taken significant steps to define the natural history of Leigh syndrome with the Leigh Syndrome Research Network. Pilot-tested through Children’s Hospital of Philadelphia (CHOP), the Leigh Syndrome Research Network will enable users to collect, analyze and share de-identified natural history data among Consortium members around the world with the goal of facilitating clinical trials on Leigh syndrome.
Spotlight on Mito Foundation
Each newsletter will spotlight a member of the Consortium’s governance committee. First up is Mito Foundation. Based in Australia and established in 2009, Mito Foundation supports people affected by mitochondrial disease (mito), funds essential research into the prevention, diagnosis, treatment and cures of mitochondrial disorders, and increases awareness and education about this devastating disease. For more information, visit https://www.mito.org.au/.
Research Roundup: A conversation with Dr. Robert McFarland
Dr. Robert McFarland and his team were recipients of a 25,000 USD grant awarded by the Leigh Syndrome International Consortium. In this interview with Cliff Gorski, UMDF Director of Communications, Dr. McFarland discusses his project and the importance of assessing outcome measures and understanding the natural history of Leigh syndrome.