“What Awareness Month Means to Me”

An Interview with CMTA STAR Researcher Dr. Kleopa

What led you in your professional life to work on finding treatments for CMT? What really got me into CMT research was the postdoc I did with Steve Scherer. When I went to Steve’s lab and had an opportunity to get directly involved with research, I was really excited with the field.

I would also say that one of the major motivations is the patients’ enthusiasm and support. I get emails from all over the world from patients suffering from CMT and they ask me how the research is going. They are really interested to see that progress is made. All of the energy and enthusiasm and the active participation of patients and associations is a driving force.

What do you wish the general public would see about CMT? Most people have only a general idea of neuromuscular disease and they usually think of muscular dystrophy, such as Duchenne, that presents visibly and dramatically. They have to understand that while CMT is not necessarily a lethal disease, it has a huge impact on society and people’s lives. It’s important for the public to know that CMT is one of the most common genetic disease that many people have to live with for many years. It takes more effort, more explanations and more pictures of people and what disabilities they have for society to realize what the impact of CMT is on patients’ lives.

What does Awareness Month mean to you as a researcher? I think it is a very import activity to let the public know about the disease and help raise funding for research. Awareness Month connects the public, patients, researchers, and doctors. It helps patients not feel alone and helps those around them understand the disability. CMT is like an orphan disease where we have to attract the support from the public and from companies that will invest in therapeutics and also from research organizations to support the research programs.

Many of the treatment methods in development can be horizontally applied to different types of CMT because the tools are the same and the know-how is the same. As we find an efficient way to deliver genes into myelinating cells to fix that particular type, the same approach can be used to deliver other genes to help other types. For example, now we have gene therapy for Spinal Muscular Atrophy, which targets the motor neurons, and some of the CMT genes can, in the same way, be delivered to the neurons to rescue the peripheral nerves.

Kleopas A. Kleopa, MD, is receiving funding for a gene therapy project at the Cyprus Institute of Neurology. The results of this study could have implications for all Type 1’s.

What’s your outlook on the possibility of finding treatments and a cure for CMT? I’m optimistic because there are a lot of developments going on, especially in the gene therapy field.

We worked a lot at first to understand the mechanisms of the disease for certain types of CMT and to generate disease models and really understand what would be the best approach to find treatments. This took at least ten years. And it’s only in the last ten years that we’ve been trying to develop gene therapy initially for the x-linked type of CMT and, more recently, also for CMT4C, CMT1A and CMT2A.

We work very hard and it’s not easy; there are a lot of challenges and it’s still some ways to go. But we are definitely in a much better position than what we were in five or ten years ago. I think it will be an accelerated path; things are moving fast. There is also a lot of collaboration going on in the CMT research field, which is really important.

How do you like to spread CMT awareness? The world is very small. Facebook and any social media can be used to disseminate information about the research we do and what the disease is like. I think it’s an opportunity for all of us to hear, talk and be heard, as well as motivate people to support CMT research.