NeuroVoices: Michio Hirano, MD, on Reflecting on Contributions to Neuromuscular Disease Research

At the 2026 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held March 9-11, in Orlando, Florida, Michio Hirano, MD, professor of neurology at Columbia University Irving Medical Center, received the MDA Legacy Award for Achievement in Clinical Research. The MDA recognized Hirano for decades of contributions to the understanding and treatment of neuromuscular and mitochondrial disorders. His work has included efforts spanning genetic discovery, investigations of molecular mechanisms, and the development of therapeutic strategies aimed at advancing translational neuromuscular research.¹

Over the course of his career, Hirano has also contributed to initiatives focused on improving clinical trial readiness, conducting natural history studies, and advancing patient-centered research across several neuromuscular disease areas. In addition to his scientific work, he has mentored clinician-scientists entering the field and has remained engaged with patients and families affected by neuromuscular disorders. These activities have supported ongoing efforts to better characterize disease mechanisms and inform the development of potential treatments.²

In a new iteration of NeuroVoices, Hirano discussed receiving this recognition from the MDA and reflected on nearly 4 decades of involvement with the organization through clinical care, research collaborations, and grant review activities. He emphasized the importance of collaboration in advancing therapies for neuromuscular conditions. He also highlighted the role of early support from MDA and other partners in advancing research on thymidine kinase 2 deficiency (TK2d), efforts that ultimately contributed to the development of UCB’s fixed-dose combination therapy doxecitine (dC) and doxribtine (dT), a recently FDA-approved treatment for the rare mitochondrial myopathy.³

NeurologyLive: What is the background context on the award that you received, and what does it mean to you to be recognized in this way?

Michio Hirano, MD: Well, I received the MDA Legacy Award. I've been working with MDA in their clinic for almost 4 decades. I've also done research on mitochondrial and other genetic myopathies and have received research grant funding from them as well. I've also worked with MDA through their grant review committees and even worked in their summer camp.

I was truly honored by this award. I have great respect for MDA and all they do, and I've been devoted to the organization. I’m truly flabbergasted because there are so many talented and dedicated people who contribute to MDA every day, and there are many others who are as deserving, or maybe even more so than I am. But I'm very grateful for this award.

I think it reflects my long-standing commitment and dedication to MDA and to the research that has led to the new therapy dC and dt, which was approved by the FDA for the rare mitochondrial myopathy TK2d. Marketed as Kygevvi, this is one of the first therapies for mitochondrial disease, and we're hopeful that this will pave the way for future therapies in mitochondrial diseases and other metabolic myopathies.

Let me elaborate a little bit more on TK2d. The MDA was an early supporter of our research in this disease. They supported our characterization of a TK2d mouse model of the human disease and some of the early development in the laboratory, and even some of our compassionate use of this therapy in humans. This has truly been supported by MDA, as well as by NIH and more recently by the pharma industry. This has truly been a team effort, and without MDA’s early support, we would have never reached this point.

Could you discuss the importance of collaboration with this work in the neuromuscular field?

Therapeutic development really takes a village to reach FDA approval. It starts with the trust and collaboration of patients and their families. From there, we work with them to understand the natural course, or what's called the natural history, of the disease while researchers in the laboratory develop therapies that need to be tested in cell and animal models, and those that show promise can then enter into early clinical studies.

We entered through an unconventional route, through compassionate use, also known as expanded access. But typically, these therapies are tested in early phase 1, then phase 2, and then ultimately phase 3 trials that provide the industry-standard data required for drug approval by the FDA. This is the typical route.

It really requires the support of many people, as I mentioned—from the patients and their families to the physicians and the researchers in the laboratory—and, of course, funding agencies such as the MDA and NIH. Ultimately, most of these therapies require the support of the pharma industry. It really requires a community of people who are dedicated to neuromuscular disorders to make these therapies come to fruition.

Is there anything you want to add that you want to share with the audience?

The MDA is a terrific organization. I would also like to add that my father was a neuropathologist, and he studied the pathology of amyotrophic lateral sclerosis, also known as Lou Gehrig's disease, and he was supported by MDA as well. I was inspired by him to go into this field of neuromuscular disease. I've been really pleased that I've been able to contribute in my own way.

Transcript edited for clarity. Click here for more MDA 2026 coverage.

REFERENCES
1. Hirano M. 2026 MDA Legacy Award for Achievement in Clinical Research. Presented at: MDA Clinical & Scientific Conference; March 8-11, 2026; Orlando, Florida.
2. Muscular Dystrophy Association’s Legacy Awards Honor Innovators in Clinical and Scientific Research, and Community Impact at the 2026 MDA Clinical & Scientific Conference in March. News release. MDA. January 14, 2026. Accessed March 10, 2026. https://www.mda.org/press-releases/mda-legacy-awards-honor-innovators-in-clinical-and-scientific-research-and-community-impact-at-2026-mda-clinical-and-scientific-conference
3. U.S. FDA approves KYGEVVI® (doxecitine and doxribtimine), the first and only treatment for adults and children living with thymidine kinase 2 deficiency (TK2d). News release. UCB. November 3, 2025. Accessed March 10, 2026. https://www.prnewswire.com/news-releases/us-fda-approves-kygevvi-doxecitine-and-doxribtimine-the-first-and-only-treatment-for-adults-and-children-living-with-thymidine-kinase-2-deficiency-tk2d-302603083.html