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Mitochondrial disease awareness week: let’s move the needle towards effective treatments and cures


This week marks mitochondrial disease awareness week across the world. As patients celebrate the significant progress in mitochondrial science, the community waits for a cure—or even a treatment.

By Andy Dearth

Earlier this month, the US Food and Drug Administration (FDA) held a patient listening session for pyruvate dehydrogenase complex deficiency(PDCC), a rare mitochondrial disease associated with a host of neurological, metabolic and developmental issues.

It was the second such call in as many years. In January 2022, the FDA held asimilar session for thymidine kinase 2 deficiency (TK2d), another rare mitochondrial disease that is similarly devastating.

That mitochondrial disease has the full attention of the FDA tells you how far the understanding of mitochondria has evolved over the last 25 years.

But to understand that progress, it helps to understand the disease itself. In the simplest form, mitochondrial disease means mitochondria cannot convert food and oxygen into life-sustaining energy, leading to cell injury and even cell death. When this process is repeated throughout the body, organ systems begin to fail and even stop functioning.

Inside the community, it sometimes can feel like the world’s most common unknown disease. Estimates often put the disease’s frequency around 1 in 5,000 individuals, which would mean more than 1.5 million affected patients worldwide.

Part of that awareness issue lies in the complexity of the disease itself. There are numerous types of mitochondrial diseases—possibly hundreds, often with each type having multiple genetic variants and names. Even today, decades into mitochondrial science, it’s not uncommon for a new pathogenic variant to be identified.

All that variation also means a wide range of outcomes. Many forms of mitochondrial disease are devastatingly progressive—meaning affected children may not survive beyond their teenage years. Adult onset can result in physical changes in a short amount of time.

The progress of mitochondrial science

Among a very small group of mitochondrial disease pioneers, very few people had a greater impact on mitochondrial science than Chuck Mohan, who in 1996, upon losing his then 15-year-old daughter Gina to mitochondrial disease, founded the United Mitochondrial Disease Foundation (UMDF).

Although some forms of the disease had been identified as early as 1966, mitochondrial science as a whole was still in its infancy at the time.

UMDF quickly developed a four-pronged strategy it still follows some 27 years later: supporting and connecting affected families, helping train and educate the medical community, working with policymakers for mito-friendly legislation and, most of all, helping find research dollars to unlock the science needed for treatments and eventual cures.

The funding for that research comes in many forms, both public and private. The latter led the way initially, mainly via grants from patient advocacy organisations like UMDF, MitoCon (Italy), The Lily Foundation (UK) and the Mito Foundation (Australia).

Public funding followed. It’s now estimated that the US Department of Defense’s Congressionally Directed Medical Research Program (which added mitochondrial disease as an eligible research topic in 2015 largely thanks to UMDF advocates) and America’s National Institutes of Health (NIH) have contributed more than $160 million to mitochondrial disease research.

This research has unlocked a new understanding of mitochondrial dysfunction, implicating it to not only mitochondrial disease but a host of more well-known diseases like Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis (ALS), intellectual disability, deafness and blindness, diabetes, obesity, cardiovascular disease and stroke, which collectively affect more than 50 million people in the US alone. A recentChildren’s Hospital of Philadelphiastudyeven suggested a connection between mitochondrial dysfunction and long Covid.

All this has helped fuel the growing field of mitochondrial medicine. In the US, there are now more than 15 products in some phase of the therapeutic pipeline for the treatment of mitochondrial disease.

And despite the excitement around new potential therapies, challenges remain.

Getting a diagnosis

Even in technologically advanced countries like the US, mitochondrial disease remains severely underdiagnosed—or, more frequently, misdiagnosed. The disease often first attacks the parts of the body that need the most energy like the muscles, heart, brain and nervous system, leading doctors down other paths. It’s not uncommon to hear of diagnostic journeys that are measured in years.

Getting healthcare professionals to suspect mitochondrial disease is a critical first step. To these ends, beyond creating general clinician awareness, UMDFoffers a number of clinician-focused educational optionssuch as monthly bench-to-bedside seminars, a variety of presentations focusing on best practices on the Mito University platform and the annual Mitochondrial Medicine Symposium (coming to Cleveland, Ohio, USA this June: 26–29 June 2024).

Once a clinician suspects mitochondrial disease, the pervasiveness—and corresponding drop in cost—of a new generation of genetic testing has largely meant good news for rare disease communities. But, at least stateside, gaps still remain in insurance coverage.

UMDF is working to fill in those gaps. In March 2022, UMDF launched apilot genetic testing projecttargeting self-identified mitochondrial disease patients, a sponsored initiative to provide qualified candidates of all ages a complimentary genetic test. The response was overwhelming, with some 1,500 applications received. Using a predictive online screening tool developed by Probably Genetic, UMDF was able to extend no-cost genetic testing to over 200 individuals. Of those selected for the test, nearly 60% received a report with findings that advanced their diagnostic journey.

In early 2023, UMDF launched another sponsored testing programme, only this time clinician-facing. In nine months, more than 700 test kits have been ordered, with close to 200 received back.

Clearly, there is both a need and demand to increase testing for suspected mitochondrial disease. It’s critical that health systems, whether private or public, work to ensure such testing is readily available and affordable.

Receiving quality patient care

A major UMDF priority has been establishing centres of excellence for patients to ensure consistent quality care.

In 2018, UMDF teamed with the Mitochondrial Medicine Society (MMS) and fellow patient advocacy groups to help create the Mitochondrial Care Network, a group of physicians at medical centres across the country that have expertise and experience in providing coordinated, multidisciplinary care for patients with genetic mitochondrial disease. As part of joining, the institution must have routinely cared for a large number of patients with genetic mitochondrial diseases, have academic and research interest in mitochondrial disease with regular scholarly activity in the field, and boast multiple specialists at their institution knowledgeable in mitochondrial disease.

There are currently 18 MCN sites, with three more on the way. It’s crucial this number continues to grow, providing access to patients across the US—and perhaps the world—with best-in-class care.

The telehealth expansion in the United States during the last few years demonstrated that remote care can play an important role in care. For many mitochondrial disease patients—especially those in rural areas—the expanded access provided a critical connection to specialty care the last three years. UMDFadvocatesare working to ensure the US Congress makes the telehealth expansion permanent.

Therapeutic development

While mito patients are closer than ever to an FDA-approved treatment, it’s critical that the entire mitochondrial disease community participates in the process. It’s highly unlikely there will be one single treatment or cure for all mitochondrial diseases. It requires an “all hands on deck” approach with numerous shots on goal.

That approach might mean trying something different, likeThe Mito Fund, UMDF’s new venture philanthropy initiative designed to fund the development of the next generation of mitochondrial disease and lower the risk associated with entry into the field for a wide range of investors and researchers.

But it also means developing what one executive called a “culture of clinical trials” in the mito community.

That is harder. It requires more action on genetic testing—patients requesting, clinicians ordering, and non-profits helping eliminate the roadblocks. It’s estimated nearly half of mitochondrial disease patients lack a genetic diagnosis. Without such confirmation, patients can’t enrol in clinical trials.

There arefour clinical trials for mitochondrial disease actively recruitingright now. The key to expanding that number is more clinical trials, which necessitates many more participants. If that inspires you, you can explore your eligibility using theUMDF clinical trials finder online.

For patients, it also means participating in the research that supports the therapeutic ecosystem. 

Join patient registries—likeUMDF’s mitoSHARE—that help researchers gain a better understanding of the disease.

Participate in studies, like thisvideo assessment study for primary mitochondrial myopathy (PMM) and PolG patientsthat’s exploring the use of at-home video to potentially measure the efficacy of future clinical trials.

And yes, it even means taking those pesky surveys from UMDF.

No matter your relationship to mitochondrial disease—patient, clinician, family, friend—you can help.

This week, 18 September through 24 September, is mitochondrial disease awareness week, a time when the community unites to spread awareness across the globe. TheUMDFandInternational Mito Patientswebsites outline all the ways you can get involved, with the hope that increased awareness, attention and funds help move the needle toward effective treatments and cures for the entire mitochondrial disease community.

This article has been made possible with support from UCB. UCB had no editorial or copyright control over this content. Views are solely those of the contributors.


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