There is unprecedented momentum in the mitochondrial disease clinical trial landscape, and the patient community plays a vital role in ensuring these trials have the potential to lead to new and effective treatments. This expert series aims to demystify clinical trial participation and answer your most pressing questions.  Dr. Amy Goldstein, Clinical Director of the Mitochondrial Medicine Frontier Program will discuss what to expect if you participate in clinical trials, and highlight their importance in the drug approval process, and Chad Glasser, Sr. Director of Clinical Research at Tisento Therapeutics, will discuss the actively recruiting PRIZM MELAS study.

Dr. Bedoyan will present the essentials for understanding pyruvate dehydrogenase complex deficiency (PDCD) and detail current clinical trials and therapeutics research for this disorder at UPMC Children’s Hospital of Pittsburgh. He will also describe the elements of newborn screening (NBS) and update the audience of current research and prospects for future PDCD NBS.

Immune dysfunction is increasingly appreciated in mitochondrial disorders. Join Dr. Melissa Walker to review the small number of known immune manifestations of specific primary mitochondrial disorders as well as emerging studies on non-specific immune dysfunction in mitochondrial disease more broadly.

In May 2023, Dr. Boles and his research group published a scientific paper on the results of 50 people that had either whole exome or whole genome sequencing. About 30 genes were identified that are highly likely or likely to be risk factors for Cyclic Vomiting Syndrome. The vast majority of these genes involved cation  (kat·ai.aan) (positively-charge salts) channels or mitochondria (energy metabolism), suggesting that disease results from a vicious cycle of cellular over-excitation(x-cytation). Dr. Boles will discuss how genetic information can help find an individual’s genetic predisposition towards cyclic vomiting, and how that translates to treatment options, including those treatments generally not considered in CVS. Lastly, he will briefly discuss 18 chronic fatigue patients with extensive DNA sequencing.

Why are patients with Fibromyalgia, Chronic Fatigue, Lymes diagnosed with mitochondrial disease? How do I know I have Mito? What should my doctor look for to consider further testing for Mito? Join Dr. Amel Karaa for a discussion about misdiagnosed mitochondrial disease.

Despite advances in newborn screening and treatment of fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to suffer from heart failure. Marie Norris will discuss her preliminary data which suggests that lipotoxicity, largely mediated by the accumulation of ceramides, is a major contributor to VLCADD-induced heart failure. Ms. Norris will discuss the role of ceramides, while addressing the mounting evidence that elevated ceramides contribute to heart failure in humans/rodents and that cardiac function improves with ceramide depletion.

 “Expanded Access” and “Compassionate Use” are terms that are utilized in our rare disease community, but what do they mean? How do patients learn about, get involved, better understand the qualifications, and talk with their doctor about participation in either of these programs? Join MitoAction and Dr. Koenig as we dive deep into better understanding the differences and overlap between “Expanded Access” and “Compassionate Use” therapies.

Having a better understanding of what things are associated with LCHADD retinopathy can provide insight towards developing treatment. During this presentation, Dr. Gillingham will provide an update on the current results of a natural history study of 40 patients with LCHADD. She will also discuss what factors are associated with retinal structure and function, and how blood biomarkers or genetics might be related. Lastly, Dr. Gillingham will update our FAOD community about her lab’s efforts to treat retinopathy in an LCHADD mouse.

Join Dr. McCormack and Dr. Guzman as they review and discuss the causes of high and low blood sugars in mitochondrial disease, while also providing important updates on mitochondrial diabetes and hypoglycemia management.

Numerous Mitochondrial disease patients consume something known as the "Mito Cocktail". What is this exactly? How do you decide where to get components of your "Mito Cocktail" and what are the pros and cons of using a compounding pharmacy?  How do compounding pharmacies work with clinicians to make sure that patients are receiving the treatments that they need?  Join MitoAction and Chemistry RX as we seek to better understand these questions and the compounding pharmacy.   Presenters: Jonathan Mordis, PharmD and CEO;  Houry Lepedjian, PharmD and VP of Operations; Jennifer Kmetich, PharmD and Lab Director

In the, “Ins and Outs of the Mito Cocktail: Part 2 of 2,” Dr. Toufas will expound on his December expert series where he explored how our bodies digest and absorb nutrients from food. He will dive deep into how different components of the mito cocktail work after they are absorbed in our body! If you have not watched his December Expert Series, take a moment to prepare for this webinar by watching it here!

In the, “Ins and Outs of the Mito Cocktail: Part 1 of 2,” Dr. Toufas will explore how our bodies digest and absorb nutrients from food, and discuss what difficulties exist in getting supplements/nutrients into our cells and mitochondria. He will take a deeper look at the Krebs Cycle and Electron Transport Chain, explain which vitamins and cofactors are used in these processes, and discuss ROS (Reactive Oxygen Species)/Oxidative damage.  The goal of Part 1 is to establish a better understanding of nutrition and food digestion/absorption, to paint a clearer picture of barriers encountered in supplemental therapy. Dr. Toufas will join us back again March 7, 2025 with part two of this series, diving deeper into how different components of the mito cocktail work after they are absorbed in our body!

This presentation will focus on the diseases that disrupt the normal process of copying our mitochondrial DNA.  Dr. Copeland will summarize the genes (POLG, POLG2, TWNK, and SSBP1) that are involved in copying our mitochondrial DNA and how they participate in preventing or causing mutations in mitochondrial DNA.  Then he will focus on the diseases caused by mutations in these genes and the consequences of these mutations on mitochondrial function and health.

When you have a child with a rare disease, who sees so many different doctors, it can feel challenging to know how your pediatrician fits into the picture!  How do you use this very special doctor to help you navigate your questions, collaborate with other doctors, and move through the everyday life of navigating a rare disease.  Join Dr. Daniel Nale as he provides practical tips and advice for patients and clinicians, after walking with an FAOD family from infancy through adulthood.

Dr. Mark Tarnopolsky, founder, CEO and CSO of Exerkine Corporation, a biotechnology/nutraceutical company developing therapies for aging, obesity, muscular dystrophy, and mitochondrial disorders, discusses aging as it relates to mito in this Expert Series recording. Original Airdate: June 16, 2023

This presentation will discuss mitochondria and psychiatry and cover the evidence that for a subset of people with bipolar disorder, mitochondria may be dysregulated in the brain. Medications used for bipolar disorder can change mitochondrial function and several novel strategies can target mitochondria.

Join us for this monthly expert series where we dive into what a genetic counselor is, what they do, how they can help you in your diagnostic journey, and some mito genetics 101.

The annual mito town meeting is our way of kicking off the new year by sharing all that we have in store for the next 12 months! We will hear from organizations and companies around the globe that have special opportunities, programs and projects for patients and families affected by mitochondrial disease.

The only thing universal about grief is that it’s universal, something we’ll all experience at some point in our lives. It’s messy, hard, non-linear, and while it may change, grief is never ending. The complexities of being a parent, caregiver, or patient in the mitochondrial disease community adds many layers that impact the grieving process. Join us as chaplain and author Becky Sansbury leads us in a discussion with Jessica Fein and Adam Johnson, about the different kinds of grief we experience throughout the mito journey.