News

Placing the patient and family members at the center of research and drug development in the rare disease field is a necessity, experts say, but one that often falls short in practice. The opinion piece,“Measuring what matters to rare disease patients – reflections on the work by the IRDiRC…

Researchers report what may be the first case of Charcot-Marie-Tooth (CMT) type 1 neuropathy being diagnosed in a 55-year-old patient after she was given standard care for advanced breast cancer. Doctors later found the woman had a family history of CMT, and the scientists speculate that the neuropathy was triggered…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

X-linked Charcot-Marie-Tooth disease (CMTX1) affects men and women differently, finds a large-scale study promoted by the Inherited Neuropathies Consortium. The study. “Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1),” appeared in the journal Neurology. CMT is an inherited genetic disease that affects the…

Being overweight does not worsen nerve function in people with Charcot–Marie–Tooth Disease type 1A (CMT1A), but it may lead to more pain and less muscle strength in lower extremities, a study reports. Researchers published the study in the Journal of Clinical Neurophysiology. Its title is “Charcot–Marie–Tooth Disease Type 1A: Influence of Body…

Researchers have found that disease progression in Charcot-Marie-Tooth type 1A (CMT1A) patients reaches a critical point at age 50, after which clinical decline occurs faster. In response, patients should be encouraged to engage in a healthy and active lifestyle in order to preserve their function, a new study…

Melatonin can significantly decrease inflammation and oxidative stress markers that may be related to the progression of Charcot-Marie-Tooth disease, a Spanish study reports. The study, which appeared in the journal Molecules, was titled “Melatonin Treatment Reduces Oxidative Damage and Normalizes Plasma Pro-Inflammatory Cytokines in Patients Suffering from Charcot-Marie-Tooth Neuropathy:…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

The connection between artist Andrew Wyeth’s most famous painting, Christina’s World, and Charcot-Marie-Tooth (CMT), a group of inherited disorders of the peripheral nervous system, will unfold as the Charcot-Marie-Tooth Association (CMTA) hosts its 8th Annual CMTA Gala to raise funds for clinical trials of…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…