News

A new study reports a mutation in the gene EGR2 that caused Charcot-Marie-Tooth disease type 2 (CMT2) in an Italian family. The study, “A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene,” was published in Journal of the Peripheral Nervous System. The…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

A research project that is now underway and recruiting participants is intended to identify new disease-causing genetic mutations in Charcot-Marie-Tooth (CMT) disease patients. The goal of the observational trial (NCT01193088), known as INC-6602, is to identify new genes that cause CMT, namely CMT type 2, and genes…

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…