YOUR HEALTH: Testing a new drug for a genetic limb condition

HACKENSACK, New Jersey – 21-year old Dakota Reilly has had problems with her feet for almost half of her life.

"I couldn't run anymore, and I did have difficulty walking, but I had the mentality that I'm just going to do whatever I can until I physically can't do it anymore."

Dakota was diagnosed with Charcot Marie Tooth Disease, a condition that often leads to weakened muscles on the bottom of the feet.

CMT is named after the three doctors from England and France who first described it more than 100 years ago.  It's a genetic condition that causes problems with the sensory and motor nerves.

For some, the progression is so severe they become wheelchair-bound.  But for others, he condition also leaves behind a lifetime of problems.

"When they're walking their foot is hanging down and they're unable to lift it," said orthopedic surgeon Dr. Wayne Berberien at Hackensack University Medical Center.

As Dakota's condition worsened, four surgeries over eight months allowed her to walk without braces and start college at the New York Fashion Institute of Technology.

"I'm proud of her," said her mother, Kerin.   "She's thriving and she's doing extremely well. I mean she has so much struggle every day and she just keeps going."

TREATMENT: While there is no cure for CMT, physical or occupational therapy as well as braces and other orthopedic devices, even sometimes orthopedic surgery can help patients cope with symptoms. Additionally, pain-killing drugs can be prescribed for those suffering from severe pain. Physical and occupational therapy are the preferred treatments, and include muscle strength training, stamina training, muscle and ligament stretching, and moderate aerobic exercise. Many CMT patients require orthopedic devices such as ankle braces to maintain everyday mobility and help prevent further injury. High top shoes or boots can also provide support, as well as thumb splints.  (Source: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet)

Kerin Reilly serves on the board of the Hereditary Neuropathy Foundation, and is closely following testing of a new drug for CMT known now as PXT3003.

"If approved by the FDA it's said to stop the progression and possibly give back a small percentage of what was lost in terms of muscle wasteness," said Reilly.

PXT3003 is a combination of three drugs that are already approved for unrelated conditions.   In earlier trials, patients showed significant improvement.

Dakota was not in the trial because she has a less common form of CMT, but Kerin says she hopes her daughter will benefit from the drug, once it is approved.

"It would change her life," she believes.

NEW DRUG THERAPIES:  French biopharmaceutical company Pharnext is on Phase 3 of clinical trials of a new drug called PXT3003 which could help treat patients with CMT.  It is an oral fixed-low dose combination of (RS)-baclofen, naltrexone hydrochloride and D-sorbitol.  Phase 3 means the drug is one step away from being approved by the FDA, and if found to be successful, could change the way patients with CMT live.  It could possibly stop the progression and give back a small percentage of what was lost in patients` muscle weakness.  In earlier trials, patients showed significant signs of improvement.  Kerin Reilly is also following closely testing for another drug therapy for CMT known now as ACE-083. Acceleron Pharma is in Phase 2 clinical study of ACE-083; which is to rebuild muscle and correct foot droop, a common symptom of CMT which increases falls and injuries.  (Sources: http://www.drugdevelopment-technology.com/news/newspharnext-begins-phase-iii-extension-trial-of-pxt3003-to-treat-type-1a-cmt-5766445)

If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens at jim.mertens@wqad.com or Marjorie Bekaert Thomas at mthomas@ivanhoe.com.