The Mito Fund Announces Investment in Pretzel Therapeutics

UMDF’s venture philanthropy arm, The Mito Fund, has invested in Pretzel Therapeutics, a Massachusetts-based company with research facilities in Mölndal, Sweden, focused on harnessing cellular energetics to modulate disease processes and improve survival, function and quality of life for a breadth of conditions.

PX578, the lead development program in Pretzel’s bioenergetics portfolio, recently entered Phase 1 clinical development in the U.S. The therapy’s focus is restoring function to mutant mitochondrial DNA polymerases, allowing repopulation of depleted mtDNA, and offering a promising approach for the treatment of mitochondrial DNA polymerase disorders (commonly known as POLG disorders) and other severe conditions linked to mtDNA depletion.

POLG-related mitochondrial diseases typically affect multiple organs, including the brain, nerves, muscles, liver, and vision. It is one of the most common inherited mitochondrial diseases, with estimates it affects 1 in 10,000 patients. There is no FDA-approved therapy for any POLG-related mitochondrial disease.

“We are honored to receive this investment from The Mito Fund, whose commitment to improving the lives of patients living with mitochondrial disease aligns deeply with our mission,” said Gabriel Martinez, Ph.D., Chief Scientific Officer and Co-Founder of Pretzel Therapeutics. “This funding not only validates the promise of our scientific approach, but also supports development of PX578, the lead therapeutic in our energetics restoration franchise, with disease modifying potential across rare mtDNA depletion syndromes and broader degenerative diseases.”

“We received tremendous feedback from our committee when it comes to the potential of PX578,” said Dr. Yeske. “But in our conversations with Pretzel, the thing that also excited us was the company’s commitment to partnering with patient advocacy groups like UMDF to advance broad POLG-related research. If we’re ever going to get to an approved therapy, that’s a critical component, and we look forward to deepening the relationship with Pretzel.”

Read more at themitofund.org.​​

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

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).

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. 

“We encourage anyone with a suspected or genetically-confirmed mitochondrial disease to join mitoSHARE, but currently there is an urgent need for patients and caregivers with these specific disorders to join as soon as possible,” said UMDF Science & Alliance Officer Philip Yeske, PhD. “We’re working on several major research initiatives focused on these disease groups and we want to make sure their lived experience is fully captured in these studies. The first step is joining mitoSHARE so we can begin a conversation about specific opportunities to accelerate drug development.” 

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. 

Join today at umdf.org/mitoSHARE.

UMDF Announces New Board Leadership

Congratulations to UMDF board members taking on new roles! Meet the 2025-2026 UMDF Board of Trustees leadership team:

• Todd Lacey – Chair
• Alan Breslow - Vice Chair
• William Cunningham – Treasurer
• Cristina Rue – Secretary

A special thanks to Alicia Palladino, JD, PhD, for her service as Chair of the UMDF Board of Trustees. Said UMDF President and CEO Kristen Clifford: “We extend our deepest gratitude to Dr. Palladino for her leadership and dedication during her tenure as Chair of our Board of Trustees. Her guidance, vision, and steady hand have helped steer us through important milestones and challenges, always with the mission at heart.”
 

New SMAB Board Members, Chair Named UMDF warmly welcomes the new members of UMDF’s Scientific and Medical Advisory Board (SMAB): Debbie Murdock, MD, PhD, of Children’s Hospital of Philadelphia Valentina Emmanuele, MD, PhD, of Columbia University Rohit Sharma, MD, PhD, of Mass General Research Institute Congratulations to Brett Kaufman, PhD, of University of Pittsburgh, the new Chair of the UMDF SMAB.  And a special thanks to Amel Karaa, MD, of Massachusetts General Hospital for her role as SMAB Chair.  "During her service as Chair, Dr. Karaa played a critical role in helping UMDF prioritize research initiatives that will light the path to treatments and cures. We can't thank her enough," said UMDF Science and Alliance Officer Philip Yeske, PhD.  Additional thanks to Carla Koehler, PhD, Gino Cortopassi, PhD, and Ralitza Gavrilova, MD for their service to the SMAB as their term ends.

No-Cost Genetic Testing to Return This Summer

UMDF is finalizing the launch of 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.

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

New Needs Assessment Coming Soon for Affected Patients and Families Affected patients and families, watch for a new Needs Assessment Survey in the coming weeks. “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,” said Margaret Moore, UMDF’s Associate Director of Support and Education. The community should see a survey invitation via email in the next two weeks.

Read MitoWorld’s #BeyondTheDisease for July

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 Mechanisms of Mitochondrial DNA Mutation and Repair, Canada's Funding of Mitochondrial Transplantation for Regenerative Medicine, “Cryptic” Mutations in Mitochondrial DNA Correlate with Aging, plus interviews with Dane Wolf, a UCLA PhD and EMBO Fellow,  and Craig Thompson, MD, of The Craig Thompson Lab at Memorial Sloan Kettering. Read the full blog here.

Recapping Mitochondrial Medicine Conference 2025

​​​​​​ MitoMed: By the Numbers

650 Attendees learning, growing, and connecting together
7 research grants funded totaling more than $500,000 to help unlock treatments and cures
14 exhibitors sharing their work and passion with our scientific and patient communities
5 amazing award winners from our volunteer and medical communities celebrated at Evening of Energy
Nearly 75 participants in research studies at our Clinical Research Pavilion, including 25 participants in the new UMDF Biorepository with COMBINEDBrain

 MitoMed: Meet Our 2025 Award Winners

Jody Thompson – 2025 Energy Award
Jody, a mito mom from Crooksville, OH, has been a force for mitochondrial disease awareness, patient support, advocacy for mito-friendly legislation, and fundraising toward cures for over two decades. She’s done it all in honor of her daughter, Baylee, who is affected by mitochondrial disease. umdf.org/the-energy-award/

Jack Ebert – 2025 Heartstrings Award
Jack will be a senior next year at Oratory Prep in New Jersey. His involvement with UMDF and the mitochondrial disease community began when his little sister, Anna, was diagnosed with Alpers syndrome in 2013. umdf.org/the-heartstrings-award/

Daniel Barsook – 2025 LEAP Award
Daniel was diagnosed with MERRF syndrome (myoclonus epilepsy with ragged-red fibers) as a young adult. A UMDF Support Ambassador since 2019, Daniel in his words seeks to “work with individuals impacted by mitochondrial diseases, which are devastating, to help them grow personally and have a healthy life.” umdf.org/the-leap-award/

Paul Lore – 2025 Stanley A. Davis Leadership Award
Paul became affected by Leber Hereditary Optic Neuropathy later in life, in his fifties. He is an LHON Support volunteer as well as a UMDF Support Ambassador – providing a listening ear and guidance in self-advocacy to patients in both the LHON and greater mitochondrial disease patient communities.  umdf.org/the-stanley-a-davis-leadership-award/

Dr. Lee-Jun Wong – 2025 Vanguard Award
This year, the UMDF and the Scientific and Medical Advisory Board were honored to present, in memoriam, the 2025 Vanguard Award to Dr. Lee-Jun Wong for her incredible dedication to the fields of mitochondrial medicine and science. Former colleague Dr. Fernando Scaglia gave a moving tribute to Dr. Wong and her work. Dr. Wong’s daughter and son, Dr. Hansie Wong and Inyork Wong, accepted the award on her behalf.  umdf.org/the-vanguard-award/

 MitoMed: Meet our Research Grant Program Winners

UMDF and Australia-based The Mito Foundation are proud to announce the 2025 Research Grant Program winners. The organizations pooled resources to award more than $500,000, which was split between seven projects focused on research and clinical work that advances cures and treatments for primary mitochondrial disease. 

“We offer our sincere thanks to The Mito Foundation for helping effectively double the amount of research normally funded at conference. This partnership really demonstrates how collaboration – whether across the country or across continents – can play a critical role in amplifying impact,” said UMDF President and CEO Kristen Clifford.

Said Sean Murray, CEO of the Mito Foundation: "Mito Foundation and the United Mitochondrial Disease Foundation share a long-standing history grounded in trust and shared purpose. I am inspired by the caliber and breadth of research and clinical trial readiness work supported through this funding, and the promise it holds for individuals and families affected by mitochondrial disease. We are also pleased to welcome The Lily Foundation to this collaborative effort — a powerful example of how collective investment can accelerate progress and bring us closer to meaningful breakthroughs."

Congratulations to the following award winners:

Principal Investigator Research Grants ($100,000 each)

• NAN-KAI WANG, MD, PHD – Columbia University
  Unraveling the Effects of SSBP1 Mutation on Vision
• NORMA FRIZZELL, PHD – University of South Carolina
  Anaplerotic odd-chain fatty acid therapy for the treatment of Leigh Syndrome
• CHRISTIAN BERGAMINI, PHD – University of Bologna
  Elucidating Mitochondrial Impairment in Troyer Syndrome – Acronym: EMITS
• CATERINA GARONE, MD, PHD – University of Bologna
  NanoMDS – Nanomedicines nucleotides or RNA therapeutics delivery for treating mitochondrial DNA depletion syndromes

Clinical Trial Readiness Grants (Various Award Amounts)  

• FLORENCE VAN TIENEN, PHD – Maastricht University ($32,500)
  Optimizing cryopreservation of muscle stem cell medicinal product for direct clinical administration in Mitochondrial Myopathy patients
• DMITRII SMIRNOV, MS – Jellyfish Bio, Inc. ($50,000)
  Validating Digital Functional Assessments in Mitochondrial Diseases: A Multinational Smartphone and Wearable Validation Study

Post-Doc accelerators Prize ($50,000)

• ANASTASIA DIMITRIOU, PHD – Northumbria University
  Monoclonal antibody therapy for Leigh syndrome
  (A special thanks to U.K.-based The Lily Foundation, who contributed a portion of the accelerators prize.)

 UMDF Announces New TikTok Channels at MitoMed

You can now find UMDF on TikTok @mitotok_umdf.  Tricia Melland (@tmelly231), a prominent TikTok influencer and affected patient who boasts nearly 350,000 followers, helped UMDF announce this new launch at the start of our conference Evening of Energy