October 2025 Newsletter: Celebrating an Approval, Therapeutic Pipeline News, FBXL4 Podcast, and More

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FDA Announces First Approved Mito Therapy: Forzinity for Barth Syndrome

On Friday, September 19, the FDA announced the approval of Forzinity (elamipretide) for use in Barth syndrome patients over 30 kilograms (approximately 66 lbs.), making it the first type of mitochondrial disease with an FDA-approved therapy.

“Together, as a united community, we have accomplished what would have seemed unthinkable when this organization was founded in 1996,” said UMDF President and CEO Kristen Clifford. “It is only through generations of selfless patients and families who shared their stories, participated in clinical trials, advocated to legislators, and funded research – along with a passionate group of researchers and clinicians who answered the call – that we find ourselves here today.”

She continued: “And while this therapy’s approval is unfortunately limited to a small subset of one of the many variations of mitochondrial disease, UMDF is committed to fighting until all mitochondrial disease patients have access to effective therapies, and ultimately, a cure.”

Barth syndrome is an ultra-rare form of mitochondrial disease associated with heart problems, muscle weakness, delayed growth, chronic fatigue, and low levels of white blood cells that fight off infection.

The therapy is thought to work by selectively targeting and stabilizing a key mitochondrial lipid called cardiolipin, which plays a crucial role in maintaining mitochondrial structure and function. Beyond today’s approval, elamipretide has also been tested in hundreds of mitochondrial disease patients diagnosed with Primary Mitochondrial Myopathy, including a phase 3 clinical trial (NuPower) exploring efficacy for nuclear DNA-related primary mitochondrial disease (PMD).

“Given this success, we are hopeful Stealth will move thoughtfully and expeditiously to submit NuPower results for FDA consideration,” said Clifford.

Calling All Non-Barth Syndrome Families on Elamipretide Expanded Access:
Join UMDF & MitoAction Webinar with Stealth Therapeutics

In collaboration with MitoAction and POLG Foundation, join us on Tuesday, October 14 at 12pm ET for special webinar with Stealth BioTherapeutics to provide an update on access to elamipretide via Expanded Access Program (EAP). This program will focus exclusively on EAP for affected individuals currently on therapy, though it will not cover access for those within the Barth syndrome community. Click here to register.

Other Therapeutic Pipeline News:

LHON-Focused Therapy Moves to FDA for Consideration

Chiesi Global Rare Diseases, a business unit of Chiesi Group, has announced the FDA is considering their New Drug Application for idebenone to treat Leber Hereditary Optic Neuropathy (LHON). A decision could come as early as February 2026. If approved, idebenone would be the first therapy for LHON approved in the United States. The drug is already approved under the name Raxone in a number of countries across the world.

Ask Congress to Take Action on Potential PDCD Therapy

As we shared last month, UMDF joined with MitoAction, Cure Mito Foundation, Hope for PDCD, and the Elizabeth Watt PDCD Research Fund, to collectively express our deep disappointment with the FDA’s recent decision not to approve dichloroacetate (DCA) for the treatment of the mitochondrial disease Pyruvate Dehydrogenase Complex Deficiency (PDCD).

While advocacy groups and the manufacturer work behind the scenes to affect change in the situation, you can help support the cause by asking your congressional offices to support flexibility for rare disease drug development when it comes to therapies like DCA. Click here to take action at the UMDF Advocacy Center.

UMDF Joins the World in Marking World Mito Week

UMDF joined mito families from across the world in marking World Mitochondrial Disease Awareness Week from September 15 through 21.

Notable Awareness Week highlights include:

Special thanks to Mount Aloysius Corp. in OH for hosting a Spirit Week of mito awareness activities in honor of Baylee Thompson.
Special thanks also to NY Jets player, Malachi Moore, who posted a mito awareness tribute story for his friend and biggest fan, Henrietta "Henri" Murray, who passed from mitochondrial disease in 2024.
Thank you to UMDF Support Ambassador, Joy Krumdiack, for securing a proclamation for Mitochondrial Disease Awareness from the State of Washington.
Thank you to Sydney Breslow for spreading awareness through her participation in the Parkinson Voice Project weekly speech exercises. As many as 1,000 people learned about Sydney and mito during a webinar spotlight.
Thank you to UMDF’s group of dedicated Mito Voice Ambassadors who inspire the mito community to share their stories on social media.

UMDF Social Media highlights:

UMDF published and reshared over 150 pieces of content (posts, reels, videos and stories) on Facebook/Instagram each just during World Mito Week!
UMDF Facebook Views: 200k+
Instagram Views last week: 81k+
During the week, UMDF broke 18,000 Facebook followers!
During the week, UMDF broke 3,000 Instagram followers!

“What amazing things this community can do together! How you raise your voices, share your mito stories, advocate for treatments, and support one another -- no matter the mitochondrial disease diagnosis or where you are in the world,” said UMDF’s Community Engagement Specialist Cassie Franklin, who oversees the organization's social media presence. “It's what World Mitochondrial Disease Week is all about. Thank you for tagging us in and sharing your experiences!”

FBXL4 featured on Powerhouse Podcast

In late July, UMDF announced funding -- generously provided by The Kamaria Satcher Fund for Kearn’s-Sayre Syndrome -- for a project by Keri-Lyn Kozul, PhD for "Therapeutic degrader molecules targeting excessive mitophagy in FBXL4- and PPTC7- associated Mitochondrial Disease."

Also, in collaboration with Dr. Kozul, UMDF is proud to introduce the launch of an upcoming special episode of the Powerhouse Podcast: Making Sense of Mito - FBXL4-Associated Mitochondrial Disease. Alongside Keri-Lyn, co-hosts will be Hannah Pletcher, a fellow researcher from Washington University in St. Louis, and mito mom/podcaster/foundation co-founder Susan Geoghegan. Listen in to a recently dropped intro as the co-hosts and UMDF’s Cassie Franklin tease out how this special episode came to be and the hopes for all it will become to both the mito research and mito patient communities. Find it here on our YouTube channel and anywhere you subscribe to your podcasts.

UMDF’s Team Activate Readying for Bank of America Chicago Marathon

Congratulations to the 20-plus runners on UMDF’s Team Activate who are preparing for the 2025 Bank of America Chicago Marathon this October 12. Last year, runners helped raise an incredible $49,000 to support UMDF services. You can support this year’s team on our Chicago Marathon 2025 page.

Three Energy for Life Events Round Out the 2025 Season

Calling everyone in North Carolina, Washington, and Florida, there’s still a chance to join us for upcoming Energy for Life events this year!

Energy for Life events help fund mitochondrial disease research, education, and advocacy, while supporting and connecting the mito community. Last year, such walks brought in over $500,000 from across the country, money that is crucial in helping chart the course toward mitochondrial disease treatments and eventual cures.

If you or someone you know is interested in doing more for the mito community, contact us to learn how you can be a part of a planning committee for an Energy for Life event! Get involved by visiting energyforlifewalk.org.

Saturday, October 4, 2025	Charlotte
Sunday, October 5, 2025	Seattle (Virtual)
Saturday, November 8, 2025	Orlando

Enter to Win a Walnut River Table and Support UMDF

In honor of AJ, a 5-year-old facing mitochondrial disease, enter to win a stunning handcrafted round walnut river table from Tucker’s Warehouse to support UMDF! No purchase is required to enter. Donations are appreciated. Shipping/delivery included. Learn more at supportteamaj.org.

UMDF Ask the Mito Doc Webcast Series – Fact vs. Fiction: Sorting Science from Speculation in Mito Treatment

Join us on October 29 at 7:00pm EDT for an Ask the Mito Doc focused on Fact vs. Fiction: Sorting Science from Speculation in Mito Treatment. The webinar will feature discussion that aims to debunk myths and educate families on therapies such as HBOT, Methylene Blue, Red Light Therapy, Stem Cell applications, Fluoroquinolones, and more. Click here to register or here to submit questions ahead of time.

Speakers include:

Eva Morava-Kozicz, MD, PhD, Icahn School of Medicine at Mount Sinai, New York, NY
Tamas Kozicz, MD, PhD, Icahn School of Medicine at Mount Sinai, New York, NY
Ibrahim Elsharkawi, MD, Icahn School of Medicine at Mount Sinai, New York, NY
Amy Goldstein, MD, Children’s Hospital of Philadelphia, Philadelphia, PA

Bench-to-Bedside Looks at Managing Mitochondrial Disease in Malaysia

Join us for the next Bench-to-Bedside Seminar for those in the scientific and medical community focused on Learnings from Diagnosing and Managing Mitochondrial Disease in Malaysia on October 13 at noon EDT. Click here to register.

Dr. Fernando Scaglia and Dr. Zuela Zolkipli Cunnigham will join as moderators with following speakers:

Rifhan Azwani Binti Mazlan, Genetic Counsellor, University of Malaya Medical Centre
Sharifah Azween Binti Syed Omar, Genetic Counsellor, Hospital Pakar Kanak and Universiti Kebangsaan Malaysia (UKM)

MitoWorld’s #BeyondTheDisease

Each month, UMDF partners with MitoWorld for #BeyondTheDisease, a feature highlighting advances in mitochondrial science and the people responsible for them. This month, read about theFirst Therapy Approved to Directly Treat Mitochondria, Mitochondria Fight Pathogens by Starving Cells of Folate, Triglycerides as Brain Food, Connecting Oxidative Stress and Mitochondrial Fission, and a recap from World Mitochondrial Disease Week. Read more at MitoWorld.

Explore Your Eligibility for UMDF’s No-Cost Genetic Testing

As part of the organization’s commitment to shortening the diagnostic journey for mitochondrial disease patients, UMDF is proud to offer its Patient-Enabled No-Cost Genetic Testing Program. You can explore your eligibility by visiting umdf.org/genetictesting.

For the first time, the testing is being offered on UMDF’s patient registry, mitoSHARE, enabling a seamless transition for genetic testing participants to receive curated results, connect their data to share with a clinician, participate in surveys and studies, and more.

The program is in partnership with Probably Genetic, which utilizes an online symptom assessment to determine testing eligibility.

The test, administered by Variantyx, is based on a whole genome backbone and will return results for all known pathogenic nuclear genes associated with mitochondrial disease as well as full mitochondrial DNA sequencing.

Start the process by joining mitoSHARE at umdf.org/mitoSHARE. Email registry@umdf.org with questions.

This program is supported in part by an unrestricted grant from UCB.

POLG, Depletion & Deletion Syndrome and 3243 / MELAS Spectrum Patients Needed in mitoSHARE

A reminder that new disease-specific research studies are coming to mitoSHARE for several mitochondrial disease types, including POLG-related disorders (POLG disease, Alpers, Ataxia-Neuropathy Syndrome and others), Mitochondrial Depletion & Deletion syndromes (TK2d, Pearson, KSS and many other nuclear genes defects) and m.3243A>G –related disorders (MIDD, MELAS, CPEO and others). Join today at umdf.org/mitoSHARE.

mitoSHARE is a worldwide research database for patients (both living and deceased) with any form of mitochondrial disease, as well as their caregivers. A confirmed diagnosis of mitochondrial disease is not required to join mitoSHARE. Patients at any stage of the “diagnostic journey” are encouraged to register.

If you are unsure about any aspect of your diagnosis, please contact registry@umdf.org for assistance or join mitoSHARE and we will help you navigate through your diagnostic odyssey.

UMDF on the Road this Fall Watch for UMDF’s Associate Director of Support & Education Margaret Moore at conferences this fall, including the Child Neurology Foundation course focused transition of care on October 7, Child Neurology Society Annual Meeting October 8-11 and the NORD Breakthrough Summit October 19-21.