MitoAction Expert Series

Join us for an informative webinar exploring KYGEVVI™ (doxecitine and doxribtimine), the first FDA-approved treatment for thymidine kinase 2 deficiency (TK2d) in adults and pediatric patients with an age of symptom onset on or before 12 years. This session will cover: The basics of TK2d, including its genetic cause, symptoms, and how it is diagnosed The impact of TK2d on patients and families An o...

Genetic testing and muscle biopsies are important tools in diagnosing mitochondrial disease, but sometimes it can be confusing how and when they are used. This presentation will seek to bring clarity around how these two different testing options are used, why clinics may choose to use one testing option over another, what information they can/cannot tell us, and how clinics use these options to d...

Dr. Chatfield will discuss cardiomyopathy and LC-FAODs, share current research, the direction of which it is heading, and treatment strategies. She will also explore prolonged-QT and electrical issues, how this interacts with metabolic crisis, and ways for doctors to monitor the heart.

Patients with progressive or static neuromuscular disease, and certainly mitochondrial disease, can cause significant difficulty with airway clearance. This can be a problem on an everyday basis when a patient is well, but will become a much larger problem when a patient is acutely ill. We will discuss the link between bulbar / upper airway function, respiratory muscle weakness and airway clearanc...

Do you or your child struggle with toe walking? Are you curious about why it occurs and where the concerns lie? Is toe walking reversible and what strategies do physical therapists to help with reduce it? Join Pamela Tucker as she explores these questions while also introducing us to a relatively new strategy called, "Serial Casting." Together we will learn more about this technique, when it may b...

There has been interest in using Ketones as a treatment for FAOD. What exactly are ketones? This presentation will go over what ketones are, how ketones are made in the body and how ketone supplements might be a little different. We will also discuss the current evidence that ketones might be a potential treatment option and what are the key unresolved questions about ketones that are limiting the...

Aquatic physical therapy provides a supportive environment to address a wide range of functional goals such as muscle strengthening, enhancing postural control, increasing core stability, reducing muscle stiffness, and facilitating mobility. This discussion will review the principles of exercise in an aquatic environment and explore how aquatic therapy can positively impact your health with a mito...

Mechanical ventilation can be a critical component of a comprehensive and successful plan to support a patient’s respiratory needs in helping them maximize their quality of life and reach their full potential. Doing so successfully starts with and continues to center around a discussion with a patient and his/her family about what their wishes are for the type of respiratory support and then custo...

When a genetic variant is shared by only a handful of individuals worldwide, what does it mean for diagnosis, treatment, and research? In this session, we’ll explore the complexities of interpreting ultra-rare genetic mutations, especially in the context of mitochondrial disease. How do clinicians and geneticists determine whether a novel or rare variant is pathogenic? What frameworks are used to...

Mitochondrial Augmentation Technology (MAT) involves internalizing healthy, functional mitochondria into patient-derived cells to address mitochondrial dysfunction. Minovia has developed two generations of MAT products, studied in patients with primary mitochondrial disease in collaboration with Sheba Medical Center. In this presentation, Dr. Elad Jacoby, the treating physician, and Dr. Noa Sher,...

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 Fronti...

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 metabo...

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...

 “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...

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 genetic...

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...

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...

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 (Rea...

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 con...

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 pa...