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…
The Bad News Unfortunately, it has recently been announced that an experimental treatment for facioscapulohumeral muscular dystrophy (FSHD) will not be continuing on in clinical trials. This is because the…
According to a story from BioSpace, the genetic medicines company Passage Bio recently announced plans for its sixth program for gene therapy development. The company plans to work with the…
According to a story from Charcot-Marie-Tooth News, a recent study has revealed that patients with Charcot-Marie-Tooth disease (CMT) type 1A still display signs of muscle weakness even if they retain…
According to a story from Charcot-Marie-Tooth Disease News, Charcot-Marie-Tooth disease is actually somewhat common in the US compared to other rare diseases. In fact, it is estimated that around 150,000…
According to a publication from Charcot-Marie-Tooth News, the first patient has been enrolled in the first ever natural history study of type 4J Charcot-Marie-Tooth disease. Study collaborators — biotechnology company…
According to a story from Charcot-Marie-Tooth News, a recent study was conducted that compared the presentation of symptoms between two different variants of Charcot-Marie-Tooth disease (CMT): CMT4B1 and CMT4B2. The…
According to a story from Charcot-Marie-Tooth News, a team of scientists have successfully identified four new mutations that are capable of causing Charcot-Marie-Tooth disease. These mutations affect the GJB1 gene. These new…
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