News

Passage Bio has acquired the rights for a gene therapy developed at the University of Pennsylvania (Penn) that aims to restore the function of the MFN2 gene, which is defective in people with Charcot-Marie-Tooth Neuropathy Type 2A (CMT2A). Developed under Penn’s Gene Therapy Program, Passage Bio…

September is Charcot-Marie-Tooth (CMT) awareness month, and the Hereditary Neuropathy Foundation (HNF) suggests it is an ideal time to increase awareness — among the general public, educators, legislators, and  physicians — about accurately diagnosing CMT and other inherited neuropathies (nerve diseases). In a press release announcing the month-long observation, the nonprofit…

Pharnext is planning a new Phase 3 clinical study to further explore the potential of PXT3003 in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). The decision to launch this new clinical trial was based on recommendations given by the U.S. Food and Drug Administration (FDA) after completing…

Schwann cells — those responsible for the production of the myelin protective layer in peripheral nerve cells — fail to develop normally in the absence of a protein called Ep400, a new mouse study shows. A lack of Ep400 locks the cells in an immature state characterized by defective myelin…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

A new technique allows for detailed understanding of how proteins are transported in the nerve cells that connect the eye to the brain, and this may have implications for not only understanding and treating eye disease, but also for neurological diseases — including Charcot-Marie-Tooth disease (CMT). Those findings were…

A mutation in the periaxin (PRX) gene has been reported for the first time as the cause of Charcot-Marie-Tooth (CMT) type 4F in a Chinese patient. The report, “Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F” was published in the Journal…

Even if not experiencing overt clinical signs, Charcot-Marie-Tooth Disease Type 1A (CMT1A) patients able to walk show respiratory muscle weakness associated with phrenic nerve damage, according to a new study. The findings in that study also revealed that having lower diaphragm strength and function is associated with more advanced…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…