News

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.

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

A mutation affecting the MPZ gene was found to be linked to Charcot–Marie–Tooth (CMT) disease in four members of a single family. University of Vermont researchers published their case report on the family, titled “Novel Myelin Protein Zero…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…