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June 22, 2018June 22, 2018

Study Examines Charcot-Marie-Tooth Type 4C in Norway, Identifies 6 New Mutations

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Charcot-Marie-Tooth (CMT) disease type 4C is the most common recessive form of the disease in Norway. Researchers, looking at all known Norwegian patients with CMT4C, also found six new mutations ... Read more

June 20, 2018June 20, 2018

Proposed Therapy for Neurodegenerative Diseases May Cause Early-onset CMT, Study Suggests

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A proposed therapy for neurodegenerative diseases involving the removal of the neurofilament light chain protein (NEFL) may have harmful consequences in humans, potentially leading to Charcot-Marie-Tooth disease (CMT), researchers ... Read more

June 18, 2018June 18, 2018

Flex Pharma Halts Phase 2 FLX-787 Trial in CMT Patients Due to Tolerability Concerns

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Flex Pharma is terminating a Phase 2 clinical trial that was assessing FLX-787 as a potential treatment for muscle cramps in Charcot-Marie-Tooth disease (CMT) patients due to concerns about ... Read more

June 15, 2018June 15, 2018

Pharnext’s PXT3003 Granted Priority Review in China for Charcot-Marie-Tooth Type 1A

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The French biopharmaceutical company Pharnext recently announced that its candidate for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A) was granted priority review by the China Food and Drug Administration (CFDA). ... Read more

June 13, 2018June 13, 2018

Treatment with Vincristine Can Reveal Mutation for CMT Type 4, Case Report Shows

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Treatment with the chemotherapy drug vincristine can lead to severe neuropathy (nerve disease) in patients with an underlying mutation for Charcot-Marie-Tooth disease type 4, according to a new case ... Read more

June 8, 2018June 8, 2018

TRPV4 Channels, Strongly Linked to CMT2C, Seen to Regulate Structure and Function of Mitochondria in Study

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TRPV4 channels, critical players in Charcot-Marie-Tooth disease type 2C (CMT2C), regulate the structure and function of mitochondria in diverse cell types, a new study shows. The study, “TRPV4 interacts ... Read more

June 4, 2018June 4, 2018

US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases

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As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third ... Read more

May 30, 2018May 30, 2018

New Gene Mutation Found in Five Family Members with CMTX4, Case Report Shows

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A new gene mutation was identified in five family members with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), a Chinese case report describes. The study, “A Novel AIFM1 Mutation in a ... Read more

May 29, 2018May 29, 2018

#ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges

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Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different ... Read more

May 25, 2018May 25, 2018

Muscle Weakness Due to Overuse Evident in Dominant Hands of CMT Patients, Study Reports

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Muscle weakness due to excessive or repetitive muscle use, a symptom known as “overwork weakness,” is evident in the hands of patients with Charcot‐Marie‐Tooth (CMT) disease, a study reported, ... Read more

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