MitoAction Expert Series

NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) is a mitochondrialdisorder with a broad and variable clinical spectrum that can affect the nervous system, vision, movement, swallowing, cognition, and energy. This talk will explore the history and genetics of NARP, how genetic confirmation informs diagnosis and care, and how symptoms such as ataxia and energy impairment can manifest in ways tha...

This presentation will dive deep into the “Falcon Study” to explain what this study is, who qualifies, the mechanism of action of the compound being studied, and how its efficacy is measured.

IVDS is a biotech company developing a CPK meter called,  CPK Now.  This small, handheld device will allow patients to check their creatine kinase (CK) level quickly from a fingerstick sample, so they and their care team can react sooner and monitor their care more effectively.  This presentation will discuss the science behind the technology, how this meter could be used, where the research/devel...

As the incidence of mitochondrial disease continues to rise, patients having a better understanding surrounding their therapies remains critical. Compounding pharmacies play a key role in simplifying medication regimens while providing affordable options. This presentation will explore the importance of compounding pharmacies while highlighting how ACHC rare disease accredited compounding pharmaci...

Lactic acid is an essential metabolite in our body, helping move energy from tissues that generate it, to the tissues that need it the most. We will talk about what lactic acid is supposed to do and how that gets dysregulated in mitochondrial disease. Objectives include naming causes of high lactate, evaluating lactate metabolically & listing downstream impacts of high lactate.

If you were to grade your knowledge of nutrition and meal planning and preparation, would you pass?  This presentation will explain the basic nutrition needs essential for overall health in individuals with mitochondrialdisease. Strategies for meal planning and meal preparation- while navigating fatigue and muscle strength- will also be shared.

Gastroparesis and motility complications are not uncommon for those with mitochondrial disease. During this presentation, Dr. Darbari will provide a background of our understanding of gastrointestinal motility and explore the complexities that patients face with diagnosis and current treatment strategies for conditions related to mitochondrial function. He will also explain current understanding s...

As our community celebrates the approval of two new therapies, understanding how to access coverage successfully has never been more important. In partnership with the Little Hercules Foundation and its founder, Kelly Maynard, this special MitoAction Expert Series will break down today’s evolving insurance landscape, including Medicaid, Medicare, ACA protections, and pharmacy vs. medical coverage,...

Dr. Amy Goldstein will join MitoAction to review the neurological system and the differences between types of neuropathies. She will explore what conditions neuropathy is most associated with, how neuropathy is diagnosed, testing options, and caveats behind testing. She will also share current management strategies (including medications, equipment, and trials).

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.