March 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
Patients Needed for Natural History Study
Pilot-tested through Children’s Hospital of Philadelphia (CHOP), the Leigh Syndrome International 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 study will begin with longitudinal data collection for two years on 100 confirmed Leigh syndrome patients using agreed upon outcome measures collected by both the clinic and the caregiver.
Participating clinical sites will be required to conduct clinical assessments 2-4 times per year. Outcome measures collected in clinic include medical history, Newcastle Pediatric Mitochondrial Disease Scale (NPMDS), Barry Albright Dystonia Scale (BADS), Movement Disorder-Childhood Rating Scale, and SARA Ataxia Scale.
Outcome measures collected by the caregiver in the home include Modified Fatigue Impact Scale (MFIS), Pediatric Quality of Life Inventory (PedsQL), Caregiver Burden Scale, ObsRO Survey and PEDI-CAT Software.
Patients with any pathogenic mutation associated with LS will be eligible. For more information, contact the relevant LSIC Partner in your country. You can find their contact information here.
Research Roundup: CureMILS (Maternally inherited Leigh syndrome)
Through preliminary work supported by the Leigh Syndrome International Consortium, Allesandro Prigione and his team have established a new research consortium called CureMILS that will be funded by the Joint European Program for Rare Diseases (EJP-RD). A three year project, CureMILS will bring together experts in stem cells reprogramming, compound screening, and mitochondrial diseases with input from the patient advocacy community via International Mito Patients (IMP).
The project is twofold with the goal to propose at least one of the following concrete options for affected patients who are currently left with no available treatments:
- To continue and expand the work on phosphodiesterase 5 (PDE5) inhibitors to identify their potential efficacy for different mutations associated with Leigh syndrome.
- To perform large-scale drug screenings using re-purposable compounds on iPSC-derived neuronal cells to uncover additional safe drugs that can be repositioned for treating patients with MILS and Leigh syndrome.
For more information visit the dedicated webpage from International Mito Patients (IMP).
Spotlight on The Lily Foundation
The Lily Foundation is the United Kingdom’s leading mitochondrial disease charity and the largest charitable funder of mitochondrial research in Europe. Its mission is to improve the lives of people affected by mitochondrial diseases, while working towards a future where mitochondrial diseases can be effectively treated or cured.
How you can help
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.
While 1 million USD has been raised for this initiative, we are continuing to fundraise with the hope to grow the program. 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.