NEW YORK CITY, N.Y. (Ivanhoe Newswire) — Charcot-Marie-Tooth disease, or CMT, is named after the three doctors from England and France who first described it over 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. Now there’s more on a new treatment that may halt CMT in its tracks.
Twenty-one-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,” Reilly told Ivanhoe.
Dakota was diagnosed with Charcot-Marie-Tooth disease; a condition that often leads to weakened muscles on the bottom of the feet.
Wayne S. Berberian, MD, Chief of Foot and Ankle Service, Department of Orthopaedic Surgery at Hackensack University Medical Center explained, “When they’re walking their foot is hanging down and they’re unable to lift it.” (Read Full Interview)
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.
Dakota’s mother, Kerin Reilly said, “I’m proud of her. She’s thriving and she’s doing extremely well. I mean she has so much struggle every day and she just keeps going.”
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 PXT-3003.
Kerin continued, “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.”
PXT-3003 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,” Kerin explained.
The drug is in phase three clinical trials right now, the last stage before the FDA considers it for approval.
Contributors to this news report include: Cyndy McGrath, Field and Supervising Producer; Kirk Manson, Videographer; Gabriella Battistiol, Assistant Producer; Roque Correa, Editor.
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TOPIC: CHARCOT-MARIE-TOOTH TREATMENT: CMT
REPORT: MB #4332
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders and affects approximately one in 2,500 people in the U.S. Named after the three physicians who first identified it, CMT is also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy. It is comprised of a group of disorders that affects the peripheral nerves, which lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. A typical indicator includes weakness of the foot and lower leg muscles. This may result in foot drop and a high-stepped gait with frequent tripping and or falling. Foot deformities are also characteristics due to weakened muscles in the feet, and include high arches and hammertoes (middle joint of toe bends upwards). CMT is caused by mutations in the genes that produce proteins that are involved in the structure and function of either the peripheral nerve axon or the myelin sheath.
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.
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.
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