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 that are often misunderstood. We will also discuss current approaches to symptom management, multidisciplinary care, and the evolving treatment landscape for individuals living with NARP.

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/development currently stands, and what the pipeline could look like.

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 pharmacies employ clinical teams that support both patients and clinicians during their treatment journey.

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 surrounding neuropathy of the gut, and explore answered and unanswered questions as to why this occurs. 

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, while also taking you behind the scenes to understand how claims are processed, how coding and prior authorizations impact access, and how to read and respond to an Explanation of Benefits. This practical, empowering session will equip patients and caregivers with the knowledge needed to anticipate barriers, avoid common missteps, and confidently advocate for timely access to treatment

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 overview of KYGEVVI, including how it works and who may be eligible for treatment
Important safety information and what to expect with therapy
For full prescribing information and important safety details, please visit https://www.kygevvi.com/.