News

Researchers have discovered a cellular “switch” that regulates the production of the correct amount of fat molecules needed for cells to create the myelin layer that protects neurons. The switch was found to rely on the fatty acid synthase enzyme, or FASN, which, when absent or inactive, leads to defective…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

An abnormal protein interaction that led to nerve fiber degeneration in a mouse model of Charcot-Marie-Tooth (CMT) disease type 2D may suggest a new approach to developing treatments for this disease subtype. The study, “Aberrant GlyRS-HDAC6 interaction links to axonal transport deficit in Charcot-Marie-Tooth neuropathy,” appeared in…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

A thorough physical examination and genetic testing to rule out Charcot-Marie-Tooth (CMT) disease prior to chemotherapy is an important step to prevent further damage to nerve cells, Kern Medical Center researchers suggest. This conclusion was supported by a case report of a 56-year-old patient with a family history of…

Researchers described the case of a family with Charcot-Marie-Tooth (CMT) disease type 4J that has two mutations in the FIG4 gene, leading to the classic features of CMT disease in addition to parkinsonism and speech abormalities. The study “Charcot Marie Tooth disease type 4J with complex central nervous system…

ACE-083, an investigative therapy for the treatment of Charcot-Marie-Tooth (CMT) disease, was well tolerated and resulted in increased targeted muscle growth in healthy volunteers in a Phase 1 clinical trial, results show. The study, “Locally Acting ACE-083 Increases Muscle Volume in Healthy Volunteers,” was published…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

A woman with Charcot–Marie–Tooth disease was unable to regulate her body temperature, experiencing heat surges and an inability to sweat, according to a Canadian case study. Researchers said they were unable to find another report of this problem. It likely stems from the TRPV4 gene mutation the patient had, they said.