The Rare Disease Report Podcast: Charcot-Marie-Tooth Disease

July 7, 2021
Jonathan Alicea

Jonathan Alicea is an assistant editor for HCPLive. He graduated from Princeton University with a degree with English and minors in Linguistics and Theater. He spends his free time writing plays, playing PlayStation, enjoying the company of his 2 pugs, and navigating a right-handed world as a lefty. You can email him at jalicea@mjhlifesciences.com.

Florian Thomas, MD, and Adrian Hepner, MD, cover the basics of the degenerative nerve disorder.

Charcot-Marie-Tooth disease refers to a group of hereditary and degenerative disorders characterized by damaged nerves in the arms and legs. Although there are currently no approved treatments for this condition, patients typically do not have lowered life expectancy.

Of course, quality of life can be negatively impacted, especially if disease onset occurs during adolescence and early adulthood.

The nerve damage can cause weakness in the legs, ankles, and feet, and individuals may experience paralysis in any of their limbs. Tripping and falling are frequent, as are deformities of the feet — often a source of embarrassment and anxiety.

In this episode of The Rare Disease Report, Florian Thomas, MD, of Hackensack University Medical Center & Hackensack Meridian School of Medicine, and Adrian Hepner, MD, Chief Medical Officer of Pharnext, explained the basic facts about the disease, highlighting the patient experience with CMT.

They talked about how it is often managed and what that care team may look like.

Central to this discussion was the research and treatment landscape, with particular emphasis on their ongoing Phase III study and the impact that a potential FDA approval can have on the lives of hopeful patients.

Thomas and Hepner also mentioned the need for greater advocacy and how increased treatment options can tie into higher awareness levels for this disease.

Listen to The Rare Disease Report on your favorite podcast platforms, including Spotify and Apple Podcasts.


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