News

ACE-083 has been granted orphan drug status by the U.S. Food and Drug Administration (FDA) to treat Charcot-Marie-Tooth (CMT) disease, the therapy’s developer Acceleron Pharma announced. The treatment is being tested in 15 U.S. states in a Phase 2 trial (NCT03124459) that is enrolling participants with …

To better understand the effect of Charcot-Marie-Tooth (CMT) disease on daily living, an Elizabethtown College student is calling for young adults with the disorder to participate in a research study. Allison Eveler, a senior occupational therapy major, is conducting her undergraduate research on CMT’s impact on the social…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Independence, mobility, the cost of medical devices and equipment, as well as uncertainty about the future, are the top concerns for patients and families living with neuromuscular diseases, including Charcot-Marie-Tooth (CMT) disease, according to a U.S. survey by the Muscular Dystrophy Association (MDA). Within the past four years, the U.S.

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

The StepWatch Activity Monitor, unlike the 6-minute walk test, was able to detect progressive deterioration in patients with Charcot-Marie-Tooth disease (CMT) over the course of one year and may be a suitable measure of outcomes in clinical studies of potential treatments, a study reports. The study, “Are novel outcome…

Mutations in the MFN2 gene are associated with altered connections between mitochondria and another cellular structure called endoplasmic reticulum (ER). These correlate with Charcot–Marie–Tooth disease type 2A (CMT2A) severity, as suggested by a study in patient-derived cells. The study, “MFN2 mutations in Charcot–Marie–Tooth disease alter…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Pharnext‘s PXT3003 was granted fast track designation for Charcot-Marie-Tooth disease type 1A (CMT1A) by the U.S. Food and Drug Administration, the company announced. “We are pleased to receive Fast Track designation for PXT3003 in CMT1A” Daniel Cohen, MD, PhD, co-founder and CEO of Pharnext, said in a press…