November 2020

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.

The Consortium is managed by a Governance Committee comprised of international patient advocacy groups including The Lily Foundation, Mitocon Onlus, Mito Foundation, People Against Leigh Syndrome (PALS), and the United Mitochondrial Disease Foundation (UMDF).

The Governance Committee works in tandem with an international scientific and medical steering committee, led by Australian researcher David Thorburn, PhD and US-based Dr. Bruce M. Cohen, to identify and select research projects to fund.

Clinicians from around the world participating in the scientific and medical steering committee include Drs.  Enrico Bertini, Patrick Chinnery, John Christodoulou, Marni Falk, Amy Goldstein, Richard Haas, Mary Kay Koenig and Shamima Rahman.  Experienced drug development executive Dr. Matthew Klein is also a member of the scientific and medical steering committee.

The Leigh Syndrome International Consortium is utilizing a roadmap framework (aka strategic plan) that’s intended to improve diagnosis, therapeutic development and optimize patient care for Leigh syndrome patients.  Collectively, the projects under this framework are the Leigh Syndrome Roadmap Projects.

While Leigh syndrome was first discovered in 1951, there are significant knowledge gaps. The Consortium’s goal is to unite resources and together “crack the code” on Leigh syndrome.  What does that mean?  We need to understand it, define it and work together to cure it.

The Consortium currently has three areas of focus:

• Natural History: understanding the typical course and development of Leigh syndrome, especially in the absence of treatment
• Clinical Trial Endpoints: meaningful outcomes that can be measured objectively (physical endurance, relief of symptoms, etc.) to determine whether the intervention being studied is beneficial
• Pre-Clinical Research: studies in test tubes or animals that yield preliminary efficacy, toxicity, and safety information before moving to the human trial phase

The Consortium has committed more than 1 million USD to Leigh syndrome Roadmap Projects; however, it is important to note that fundraising is ongoing and we continue to seek financial support from corporations, foundations and individuals.

Current projects include:

• Research Grants: 179,000 USD was awarded to six research teams that are actively working toward improving diagnosis, developing treatments and optimizing clinical care for Leigh syndrome patients. Read more here.
• Leigh Syndrome Research Network: Pilot-tested through Children’s Hospital of Philadelphia (CHOP), the Consortium is employing an infrastructure 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. The scientific steering committee has agreed upon a core set of clinical assessments to ensure natural history data are collected in a harmonized way.

Next steps include:

More research grants: the second grant cycle is currently planned for mid-2021.

Growing the research network: Taking what we learned at CHOP, we’re currently assessing what our Consortium sites need to implement the research network on a local level to then share data across the world.

The Leigh Syndrome International Consortium is continuing to fundraise to support this initiative.  Donations can be made on behalf of the project to any one of the Governance Committee partners.  Click here to read more about each organization.