Delivering tomorrow's treatments for today's patients

July 2021

Welcome!

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 info@leighsyndrome.org.

In this fight together,

Leigh Syndrome International Consortium Governance Committee members

Natural History Study Prepares for Launch

Final preparations are being made to launch a  multi-year Natural History Study (NHS) on Leigh syndrome! Our initial goal is to enrol 100 LS patients from around the world and to follow their clinical progress at participating sites for at least 3 years. We will also collect data from patient caregivers during this time to complement the clinical data and to better understand caregiver burden.

Data collection will be facilitated through Children’s Hospital of Philadelphia (CHOP) and the NHS protocol is complete and is currently under ethical review.  Once approved, CHOP and the Leigh Syndrome International Consortium will work hand-in-hand to share the protocol with clinical and research sites around the world.

The main aim of this important initiative is to develop a clearer understanding of the course of the disease, but equally as important, to be able to use the de-identified information gathered in the study to successfully facilitate clinical research that will lead to therapeutics for LS patients.

You can read more on the importance of natural history and this study in the November and March editions of the newsletter.

Mitocon presents Therapeutic Strategies for Leigh Syndrome

In this seminar, Dr. Daria Diodato and Dr. Alessandro Prigione discuss the path that some scientific studies are following to discover treatments on mitochondrial patients, starting from collecting data about the natural history of the various forms of Leigh syndrome to genetic epidemiology.

Research Roundup

The Leigh Syndrome International Consortium is gearing up to announce a second grant cycle by the end of Calendar Year 2021.  Keep an eye on LeighSyndrome.org and Consortium member social media pages for more information.

Spotlight on Mitocon

 

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Mitocon is the leading mitochondrial diseases patient association in Italy. Founded in 2007, it supports and advocates for patients, funds research increases awareness and improves education about mitochondrial diseases.  Most recently, Mitocon launched “Spazi Rari,” or “Rare Spaces.”  Founded in 2018, Spazi Rari is a virtual group support and training program aimed at improving the quality of life of patients and their families, as well as strengthening the Italian community of people with mitochondrial diseases.