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 determine a diagnosis of mitochondrial disease.
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 clearance and how to optimize airway clearance and lung health.
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 be useful to explore and how it is done.
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 field moving forward.
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 mitochondrial condition
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 customizing the approach accordingly. This discussion will review different approaches towards successful respiratory support for patients with mitochondrial disease.
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 classify variants, and how do phenotypic data contribute to this process? Can a “variant of uncertain significance” (VUS) eventually be reclassified as clinically meaningful? Join Dr. Rossana Sanchez, Assistant Professor and Pediatric & Metabolic Geneticist at Emory Genetics, for an in-depth discussion on the scientific, clinical, and emotional challenges faced by individuals in the mitochondrial disease community who truly are “the rare among the rare.”
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, Minovia’s CSO, will discuss the promises, challenges, and clinical outcomes of this innovative therapy, providing a comprehensive review of the data to date. This session offers valuable insights for patients, families, and clinicians interested in cutting-edge mitochondrial disease therapies.
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