News

The CMT Research Foundation has teamed up with AcuraStem and scientist Alessandra Bolino, PhD, to test potential new therapies for Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe form of the disease with early onset. CMT4B1 is caused by mutations in the gene MTMR2, which is involved in the…

Scientists in China examined the relationship between genetic mutations in the MORC2 gene and the various disease characteristics in people with the rare Charcot-Marie-Tooth disease subtype 2Z (CMT2Z).  Physicians should consider their study’s findings when working to diagnose unresolved cases showing…

InFlectis BioScience and the University of Chicago have entered into an agreement that grants InFlectis exclusive patent rights to use a family of small molecules as potential treatments for demyelinating disorders that include Charcot-Marie-Tooth disease (CMT). Specifically, the license covers the use of IFB-088 and IFB-048,…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

The CMT Research Foundation (CMTRF) will host the first Global Charcot-Marie-Tooth disease (CMT) Research Convention on Sept. 24–25 in Alexandria, Virginia, and online. “The CMT scientific community is growing rapidly. We know that real progress happens in environments that foster open collaboration and sharing of science,” Susan Ruediger,…

A new financial partnership between Pharnext and Alpha Blue Ocean will help support the Phase 3 clinical trial PREMIER, which is testing Pharnext’s investigational therapy PXT3003 for Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A is the most common subtype of CMT type 1, which is the most common…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

A small study described variable clinical and MRI findings in three Korean people with rare dominant intermediate Charcot Marie Tooth (CMT) disease type F.  These results may be useful for the diagnosis of CMT patients with unknown genetic mutations, the scientists…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…