FDA Issues Decision on Elamipretide for Barth Syndrome

Last week, the U.S. Food and Drug Administration (FDA) decided against approval of elamipretide for use in patients impacted by the rare mitochondrial disease Barth syndrome. UMDF President and CEO Kristen Clifford issued the following statement:

“We are deeply disappointed in the FDA’s decision to not approve the current new drug application for elamipretide for the treatment of Barth syndrome. While we appreciate guidance that could eventually provide a pathway for accelerated approval, that’s little consolation for patients where even a delay of a few days matter. Time is simply not on our side. As we stated in our letter to the FDA Advisory Committee this past fall, every patient living with mitochondrial disease deserves access to therapies that are shown to safely enhance quality of life. We believe elamipretide met that standard for Barth syndrome and the advisory committee clearly agreed. We thank the Barth Syndrome Foundation for their leadership in this process, and we look forward to working together to explore every option to fill this huge unmet medical need.”

There are two additional FDA action dates related to potential mitochondrial disease therapies scheduled for 2025, including UCB’s doxecitine and doxribtimine for the treatment of Thymidine Kinase 2 deficiency (TK2d) and Saol Therapeutics’ dichloroacetate oral solution focused on Pyruvate Dehydrogenase Complex Deficiency (PDCD). You can follow along with the progress of related therapies on UMDF’s Therapeutic Pipeline page.

Meet the 2025 accelerators Finalists

Congratulations to our four post-doc finalists competing for the $50,000 accelerators award at Mitochondrial Medicine 2025:

Keri-Lyn Kozul, PhD, Washington University in St. Louis: Therapeutic degrader molecules targeting excessive mitophagy in FBXL4- and PPTC7- associated Mitochondrial Disease

Islam Alshamleh, PhD, Children’s Medical Center Research Institute
at University of Texas Southwestern: Diagnosing and monitoring mitochondrial disease non-invasively with deuterium metabolic imaging

Anastasia Dimitriou, PhD, Northumbria University in Newcastle: Monoclonal antibody therapy for Leigh Syndrome 

Prerona Bora, PhD, The Scripps Research Institute in San Diego: Pharmacologic Activation of the Integrated Stress Response to Ameliorate Mitochondrial Dysfunctions Associated with Imbalances in Mitochondrial Proteostasis 

As part of The Big Pitch, on the morning of Friday, June 20, each finalist will give a five-minute presentation on their research project. UMDF accelerators will have the exclusive opportunity to vote for their favorite pitch. You need not be present at conference to vote. Read more about the finalists’ research projects, and find out how to become an accelerator today.

Already an accelerator? Watch for an email with voting instructions the week of June 9. Voting is open Friday, June 13 at 10am CT through Friday, June 20 at 4pm CT.
 

Mitochondrial Medicine 2025 St. Louis, MO - June 18 - 21, 2025 REGISTRATION: Registration for the conference is still available at umdfconference.org.  HOTEL: While the UMDF room block is no longer available, you can still book directly with the hotel or explore surrounding hotels.   PARKING: The Hyatt offers on-site paid parking and valet services. If you’re looking for more economical options, both SpotHero and ParkWhiz offer booking for third-party lots nearby. AGENDAS: Scientific & Clinical sessions Patient/Family sessions LHON-specific sessions  CLINICAL RESEARCH PAVILION: As part of conference, patients and caregivers will once again have the opportunity to help further mitochondrial disease research by participating in the Clinical Research Pavilion on-site. Amongst the studies available are mitoSHARE Patient Registry (10+ studies), UMDF Biorepository in partnership with COMBINEDBrain, MitoARCH Study by Tisento Therapeutics, MM Coast Study by Children’s Hospital of Philadelphia, and more. Get a head start on participating in research by signing up for mitoSHARE today, UMDF’s patient registry. REMINDER – if you want to participate in the biorepository (or other clinical study at the conference), you need to have your genetic testing results uploaded to  mitoSHARE OR bring them with you to conference! Contact registry@umdf.org to get scheduled today!  DOC IS IN -- REGISTRATION OPENS SOON: For patients and families, the extremely popular Doc Is In sessions return! Registration will open on the conference app starting Friday, June 13.​​​​​​ Watch for details. SUBMIT ASK THE MITO DOC QUESTIONS: Conference will once again feature an in-person Ask the Mito Doc session featuring Bruce Cohen, MD, Akron Children’s Hospital; Jaya Ganesh, MD, Icahn School of Medicine at Mount Sinai; Sonal Sharma, MD, Children’s Hospital of Philadelphia; and Jennifer Yang, MD, University of California San Diego. While this year will not be livestreamed, it will be recorded for playback. Anyone is eligible to submit questions in advance. MITO MED APP – COMING SOON: The Mitochondrial Medicine 2025 App will be available for download approximately 10 days prior to the conference. Watch for an email with instructions! The app is available via mobile (Apple & Google Play) or desktop, allowing you to create a custom agenda, view speakers, explore exhibitors, and much more.  "WHAT TO EXPECT” WEBINAR: Click here to watch a special UMDF webinar recording on What to Expect at Mitochondrial Medicine Conference 2025, including registration details, mobile app, hotel layout, daily schedules, the Clinical Research Pavilion, differences between "Doctor Is In" and "Ask the Mito Doc Panel," networking opportunities and special sessions, meals, exhibitors and more.  SPONSORS: A special thanks to the sponsors committed to supporting Mitochondrial Medicine 2025 including Edith L. Trees Charitable Trust, UCB, Tisento Therapeutics, Saol Therapeutics, Akron Children’s Hospital, Abliva, Children’s Hospital of Philadelphia, Baylor Genetics, Summit Health Pharmacy/Chemistry RX, BPGbio, Haggarty Family Foundation, NADMED Ltd., National Institutes of Health, Pretzel Therapeutics, and Variantyx.

New Needs Assessment Coming for Affected Patients and Families

UMDF is launching a new Needs Assessment Survey for affected patients and families later this month. 

“This survey is an easy way to ensure your voice is reflected in UMDF services,” said Margaret Moore, UMDF’s Associate Director of Support and Education. “We hope these questions will help identify community priorities, show where we have unmet needs, and ensure that our programs and resources remain relevant to everyone we serve.”

Families should see a survey invitation via email in late June.

No-Cost Genetic Testing to Return this Summer

UMDF is preparing to launch a new patient-facing, no-cost genetic testing program this summer. For the first time, the program will be managed out of UMDF’s patient registry, mitoSHARE.

To ensure you’re notified when the program goes live, provide your email address at umdf.org/genetictesting. You can get a head start on the process by joining mitoSHARE today.

This is the fourth variation of no-cost genetic testing UMDF has offered. Since 2022, more than 600 individuals have received free testing that helped further their diagnostic understanding thanks to UMDF programs.

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

Read MitoWorld’s #BeyondTheDisease for June

Each month, UMDF’s research team partners with MitoWorld to provide a #BeyondTheDisease feature recapping the latest mitochondrial research and news, along with analyzing future impact on mitochondrial disease research.  

This month in the Beyond the Disease collaboration between MitoWorld and UMDF, read featured work from MitoWorld’s Gary Howard and Gordon Freedman on mitochondrial frontier topics like Innate Immune System Dysfunction in Mitochondrial Diseases, Mitochondrial Disease and Endocrine Function, Cell Biology of Mitochondria, plus interviews with Columbia University’s Martin Picard, PhD and Mitochondrial Medicine Conference 2025 Co-Chair, Jonathan Brestoff, MD, PhD, MPH. Read the full blog here.