10 Questions with Neurologist and Rare Disease Expert Gyula Acsadi, MD, PhD

At Connecticut Children’s, some of the top physician-researchers in the nation are doing whatever it takes to transform care for children with rare diseases. We sat down with Gyula Acsadi, MD, PhD, division head of neurology at Connecticut Children’s, to learn more about recent developments in treatments for children with rare neurological disorders.

What are some of the rare neurological disorders you treat here at Connecticut Children’s?

Muscular dystrophies—particularly Duchenne Muscular Dystrophy—and Charcot-Marie-Tooth disease. There are new therapies available now for Duchenne Muscular Dystrophy, which we are able to provide here at Connecticut Children’s. For Charcot-Marie-Tooth disease, we have active clinical trials going on to collect information about what is going on over time with the patient and try to establish outcome measures that will be useful in the next clinical trials for treatment.

In your view, how does research help advance treatment of rare diseases?

Research is crucial to understanding the disease. When you understand the disease, you then have the knowledge to design treatments for the disease. Eventually the bench research will lead to other treatments for the disease.

Why did you make it your mission to focus on neurological disorders, and what are some accomplishments you’re particularly proud of?

My clinical interests came from my interest in neurosciences in general. One major accomplishment is my contribution to gene therapy science. As a young doctor, I had the opportunity to work in a research laboratory that had discovered how to perform gene therapy in muscular dystrophy. I had the opportunity to be a part of that research and publish significant results from that work.

Is gene therapy currently offered here at Connecticut Children’s?

Some of these new therapies are still in clinical trials and not yet FDA-approved, but we are hoping to be on board in about 6 months or so. Connecticut Children’s will be a site for various gene therapies, not just for neurological disorders, but for hematological disorders and Glycogen Storage Disease.

How many clinical trials does Connecticut Children’s currently offer for neurological disorders?

I have currently five clinical trials that are active, and my colleagues are currently conducting about eight clinical trials. For more information, visit clinicaltrials.gov.

In your view, why are clinical trials so important? How do they benefit patients?

These are crucially important because they translate the scientific work that goes on to try to find treatments for rare disorders. Without running controlled, well-designed clinical trials that look at the efficacy of a particular medication, it will not be possible to get medications approved by the FDA.

What is one neurological disorder you wish people knew more about?

Spinal Muscular Atrophy (SMA) is the number one disease that I would like people to know more about. It is a very exciting time right now because we can offer a new treatment for it. There is a genetic-based medication that was approved in December 2016 and is currently the only approved medication for this disorder. Since we were enrolled in the initial clinical trial for this medication, we are very excited that is available because the medication is effective and truly helps improve the condition of patients with SMA.

Are there any differences between how children are treated for rare diseases versus adults?

What is interesting in the field of neuromuscular disease is that many of these conditions are genetic and have onset in childhood. There is a larger concentration of patients who are diagnosed with genetic rare disorders in childhood than in adulthood.

Why should people choose Connecticut Children’s for care and treatment of rare neurological disorders?

There are several experts in at Connecticut Children’s who are well known for their work in many rare diseases. Patients can feel very comfortable that they will have access to the most advanced treatments.

Is there anything else you’d like to add?

We encourage parents who have children with any forms of rare disorders and are seeking new treatments to call us—we are happy to help them.

Learn more about Connecticut Children’s Neurology Program