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


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

Quick Facts about Charcot-Marie-Tooth Disease

  • US prevalence is ~1 in 2500, or 130,000 individuals.
  • Virtually all cases are inherited.
  • There is no cure for the disease; patients may be managed with supportive therapy.
  • It is rarely life-threatening, and muscles for vital functions are not typically implicated.
  • Common early symptoms include weakness or paralysis of the foot and lower leg muscles.
  • Nerve pain may range from mild to severe.
  • Some patients may need foot/leg braces or other orthopedic devices.

Quotes of Interest

It is very interesting for everybody to know that this disease has been described over 100 years ago. But to date, no drug has been approved.

- Adrian Hepner, MD

I am glad to be part of a treatment team that involves rehab therapists, physiatrists, child neurologists, foot and ankle surgeons, podiatrists, and people whose expertise is in designing ankle braces that can stabilize a dropped foot.

- Florian Thomas, MD

It is not uncommon that patients take medication to treat many of the symptoms — including pain, fatigue, depression.

- Adrian Hepner, MD

Unless there is a clear family history, in many cases it is underdiagnosed.

- Adrian Hepner, MD

Having a medication for CMT will dramatically increase recognition of patients by doctors.

- Florian Thomas, MD

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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