News

March 21, 2019March 21, 2019

CMTA Plans Host of Events for Charcot-Marie-Tooth Patients, Caregivers

News

Several Charcot-Marie-Tooth Association (CMTA) events are planned in the coming months for Charcot-Marie-Tooth (CMT) patients and caregivers. The organization is hosting a live Facebook webinar March 26 at 9 ... Read more

March 18, 2019March 19, 2019

Researchers Report CMT2-causing Mutation in the EGR2 Gene

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 ... Read more

March 14, 2019March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

News

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 ... Read more

March 12, 2019March 12, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

News

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 ... Read more

March 12, 2019March 12, 2019

Observational Trial Recruiting Participants to Identify New CMT-related Mutations

News

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), ... Read more

March 7, 2019March 7, 2019

ACE-083 Granted FDA’s Orphan Drug Status to Treat Charcot-Marie-Tooth Disease

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. ... Read more

March 5, 2019March 5, 2019

Elizabethtown College Student Seeks CMT Patients for Online Survey on Daily, Social Activities

News

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 ... Read more

March 5, 2019March 5, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

News

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 ... Read more

February 28, 2019February 28, 2019

US Survey Identifies Top Concerns Among Patients, Families Living with Neuromuscular Diseases

News

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 ... Read more

February 26, 2019February 26, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

News

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 ... Read more

Pin It on Pinterest