According to an article from Charcot-Marie-Tooth News, a study was conducted that discovered three new mutations on the GJB1 gene that result in X-linked Charcot-Marie-Tooth disease (CMTX1). The study, which…
According to a story from Charcot-Marie-Tooth News, an experimental HDAC6 inhibitor called CKD-504 appeared to restore myelination in mouse and cell models of Charcot-Marie-Tooth disease type 1A in a recent…
Researchers have known, for a while, that a variety of gene mutations contribute to different subtypes of Charcot-Marie-Tooth disease. The specific condition is dependent on which gene is mutated. But…
September is recognized as Charcot-Marie-Tooth disease (CMT) Awareness Month. Although this illness is one of the most widespread inherited genetic disorders, there is still a significant need to spread awareness…
According to Charcot-Marie-Tooth News, patients with Charcot-Marie-Tooth disease type 1A (CMT1A) have an extra PMP22 gene. However, new research shows that this excess gene causes a toxic accumulation of protein within cells.…
This month is Charcot-Marie-Tooth (CMT) Awareness Month. Due to COVID-19, there cannot be any of the typical events, but that doesn't mean there's nothing you can do. From a virtual…
The CMT Research Foundation has announced that September will be Charcot-Marie-Tooth (CMT) Disease Action Month. The switch from awareness to action illustrates just how much CMT patients and their families…
According to a story from Charcot-Marie-Tooth News, a recent study suggests that the three components of the investigational therapy PXT3003 work in synergy to improve the condition of patients with…
According to Charcot-Marie-Tooth News, biotechnology company Helixmith recently began a Phase 1/2a clinical trial to test the efficacy of Engensis (VM202) for patients with Charcot-Marie-Tooth disease type 1A (CMT1A). The…
According to a story from Charcot-Marie-Tooth News, the nonprofit organization CMT Australia, which focuses on serving the Charcot-Marie-Tooth disease patient community in Australia, has recently acquired a grant to the…
Researchers have been trying for years to better understand the mutations which cause the rare disorder called Charcot-Marie-Tooth disease (CMT). Tremendous progress has been made. But now that we know…
According to a story from Charcot-Marie-Tooth News, an all new protocol first described in the journal Brain Sciences could mark a significant advance in Charcot-Marie-Tooth disease research. The protocol allows for the…
Chemotherapy-induced peripheral neuropathy, or CIPN, is a common side effect of chemotherapy. A recent study aimed to uncover whether or not oxaliplatin chemotherapy increased risk of CIPN for those with…
According to a story from Charcot-Marie-Tooth News, a new nonprofit organization called Shark Tooth Cycling has recently begun operations. The mission of the organization is to encourage young people in…
CMT1A Charcot-Marie-Tooth disease (CMT) has a few different subtypes. 60% of all patients diagnosed with type 1 of the rare disease have CMT1A. This subtype means patients have an duplicate copy…
A study conducted by researchers from Aix-Marseille University in France has revealed a new way to track disease progression of Charcot-Marie-Tooth disease type 1a (CMT1a)- changes to the nerves within the thigh.…
In Spain, a young child showed signs of muscle atrophy and difficulty walking; she wasn't quite stable on her feet and struggled with balance and coordination. But it wasn't until…
Finding out that you are pregnant conjures up a lot of feelings: nervousness, excitement, happiness, and love. But if you have a rare disease or disorder, especially a genetic condition,…
A seemingly healthy baby was born in China. But as she grew up, her family started noticing that their daughter wasn't hitting motor milestones. She didn't start walking until she…
For those in the rare disease community, you know that it can take a long time to reach a diagnosis for your condition: an average of 4.8 years! But upon diagnosis, many…
According to Charcot-Marie-Tooth News, a recent case study found that a variation of the SEPT9 gene could contribute to the development of Charcot-Marie-Tooth disease. Read the full findings in BMC Medical Genetics. Charcot-Marie-Tooth…
In a Special Issue of the journal Disease Models and Mechanisms Highlights, James J. Dowling et al describes pediatric neuromuscular diseases as mostly genetic and affecting areas of the peripheral…
The Institute for Gene Therapies (IGT) is a new development, aimed at improving the speed of development and accessibility of gene therapies. Gene Therapy Many rare diseases are caused by…
According to a story from Charcot-Marie-Tooth News, the Muscular Dystrophy Association (MDA) may at first seem like a group that is solely focused on helping muscular dystrophy patients, but its…
Phase 3 Trial A Phase 3 trial run by Pharnext examining the safety and the efficacy of an investigative therapy called PXT3003 began in December of 2015. It enrolled 323…
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