Drug Repurposing News, Registry Paper Preprint, and More Updates

Dear Friends, Partners, and Supporters of the Cure Mito Foundation,

We’re excited to share our March updates with you. This month, we’re highlighting a new blog on drug repurposing—an approach that explores how existing medications may be used in new ways to accelerate treatment development for Leigh syndrome.

We’re also sharing a new research spotlight on sildenafil, including an upcoming clinical trial and what it could mean for individuals with Leigh syndrome.

In addition, we’re excited to share that a preprint of our latest registry paper is now live, along with other important updates from the Leigh Syndrome Patient Registry.

We’re also sharing highlights from Rare Disease Day, inspiring community fundraising efforts, and important FDA updates, and more.

You’ll find all the details in the sections below. Thank you for being part of our mission and for your continued support.

With gratitude,
The Cure Mito Foundation Team

“ Wherever you go, go with all your heart. ”

— Confucius —

Rare Disease Day Recap

This Rare Disease Day, we were honored to participate in meaningful conversations and advocacy efforts both virtually and in person.

We attended the Rare Disease Summit hosted by the Boston Globe and joined the Rare Disease Day Patient-Provider Dialogue at the Countway Library of Medicine in Boston.

Most importantly, we shared a special video highlighting the voices, dreams, and resilience of the children in our community.

We invite you to watch the video HERE.

New Blog Post: Drug Repurposing for Leigh Syndrome

We’re excited to share a new blog post highlighting drug repurposing—an approach that explores existing medications in new ways to identify potential treatments more quickly and efficiently.

In this post, we break down what drug repurposing is, how it works, and how Cure Mito is applying this strategy to advance research for Leigh syndrome.

We are especially grateful to Leora Fox, our scientific consultant, for her expertise and contributions in making this blog possible.

Learn more HERE.

Leigh Syndrome Global Patient Registry News

If your loved one has been diagnosed with or passed away from Leigh syndrome, your voice is important.

Joining the registry takes about 30 minutes and involves completing two surveys. The registry is secure, confidential, and open worldwide.

We regularly share what we’re learning with the community - because your experiences matter.

Please visit our website where you can now view updated enrollment instructions. You can also download the enrollment instructions by visiting our website or clicking HERE.

Learn More

Coming soon to the patient registry: In the coming weeks, registry will have new questions focused on understanding patient and caregiver perspectives - particularly around treatment priorities and risk tolerance when considering new therapies or participation in clinical trials.

These updates will help ensure that research and future trials reflect what matters most to our community.

Please follow us to learn when these questions go live!

New preprint: Transforming a Leigh Syndrome Patient Registry to the OMOP Common Data Model

We’re excited to share that a preprint of our new registry paper is now live!

The OMOP Common Data Model provides a standardized data framework and shared vocabulary that enables interoperability, reproducibility, and the use of common analytic tools across diverse data sources.

This work builds on our previous transformation of registry data to CDISC and represents another step toward making Leigh syndrome registry data more usable for research and therapy development.

Thank you Parag Shiralkar Sushma Ghanta and Sumptuous Data Sciences team for a collaboration on this work!

Read the preprint HERE.

New Research Spotlight: Sildenafil and Leigh Syndrome

We’re excited to highlight new research from Dr. Alessandro Prigione and his team, recently published in Cell, exploring the potential of sildenafil as a treatment for Leigh syndrome.

The team is planning a multi-national, placebo-controlled, double-blind clinical trial for individuals with MT-ATP6 mutations, with recruitment expected to begin later this year. We are proud to be partners and contributors to this important effort.

Important note for families: Please do not take sildenafil without medical supervision due to potential safety risks. The safety and effectiveness of this approach will be carefully evaluated through the upcoming clinical trial.

Read full paper HERE.

Read NY Post article HERE.

FDA Draft Guidance: Advancing Individualized Therapies

The FDA released new draft guidance on the use of the Plausible Mechanism Framework to support the development of individualized therapies for rare genetic conditions with known biological causes.

The document outlines how the Plausible Mechanism Framework may be used to support development of individualized therapies when traditional randomized clinical trials are not feasible.

It highlights the importance of natural history data, biomarkers, and nonclinical evidence, as well as early engagement with the FDA and careful benefit–risk assessment for serious and life-threatening conditions.

Read the full document HERE.

Kasey Woleben was also interviewed by the Dallas Morning News about what this proposal could mean for her son and other families navigating rare disease.

This new direction from the FDA makes our work with C-Path even more important as we continue building the data and tools needed to support therapy development for mitochondrial diseases.

Thank You for Fundraising

Thank you to the many individuals and families who continue to fundraise in support of Cure Mito. Your dedication, creativity, and commitment are helping to drive research forward and bring hope to our community.

This month we are honored to highlight:

Warwick Valley Middle School Ukulele Club for hosting a March 20 benefit concert in memory of Lila Suzor. Lila Suzor was an 11-year-old Warwick Valley student living with ECHS1 Deficiency, a form of Leigh’s syndrome, who died in 2025. She is remembered for her love of art and music, having performed singing and piano performances at one of her elementary school concerts.

Devaraga School of Music for hosting a beautiful arts fundraiser featuring paintings by children, raising $7,000 in honor of Aadya to support Cure Mito and inspire compassion across their community.

Anaya family for courageously sharing their story in the news and fundraising following the recent diagnosis of 5-month-old Francisco Jr. with Leigh syndrome.

Update from Saol Therapeutics on SL1009 (DCA) for PDCD

Saol Therapeutics will have a type C meeting with the FDA regarding SL1009 (DCA) for Pyruvate Dehydrogenase Complex Deficiency (PDCD) at the end of March.

More information:

What is a type C meeting
Saol’s full letter to the PDCD community

Article in Newsweek featuring advocacy from the Hope for PDCD Foundation

Cure Mito Foundation is a 501(c)(3) nonprofit organization founded by parents and driven by a deep commitment to finding a cure for Leigh syndrome and other mitochondrial diseases. Your tax-deductible donation directly supports research focused on advancing treatments and improving the lives of those affected.

For many ways to give, please click here:

https://www.curemito.org/ways-to-give

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