Taxonomy

2019 Spring CMTA Report

Clinical Trials: A Primer! In addition to our regular features, read about “A Clinical Trial for Caroline,” fast tracking and more.

A Cure for Caroline and Other CMT Stories

Caroline's journey with a rare and serious form of CMT began when she was just 9 months old. Today, a cure for Caroline may open the door to treatments and a cure for CMT!

Type 1 CMT Gene Therapy Project Now Underway

Mutations in the gene coding for the gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32), are associated with CMT1X. Dr. Kleopa will test whether delivery of the Cx32 gene using an adeno-associated virus (AAV) vector can improve symptoms in a mouse model of CMT1X.

CMTA-Funded Research Database Identifies New Mutations

While researchers have identified more than 90 mutated genes that cause CMT, approximately 50 percent of CMT2 patients do not yet have a definitive genetic diagnosis. Dr. Stephan Züchner at the University of Miami is working to change that.

Three Major Patient Advocacy Groups Focused on CMT Research Collaborating on FDA “Voice of the Patient” Report

This CMT Awareness Month, the CMTA is proud to join the MDA as a sponsor of the Hereditary Neuropathy Foundation, who will be hosting the Externally-led Patient-Focused Drug Development Meeting (PFDD).

Regenacy Pharmaceuticals Announces Collaboration with the CMTA to Advance Ricolinostat for the Treatment of Hereditary Neuropathy

Regenacy today announced a collaboration with the CMTA to validate the role of HDAC6 in multiple forms of Charcot-Marie-Tooth (CMT) disease and evaluate the efficacy of ricolinostat, a selective HDAC6 inhibitor, in animal models.

CMTA Announces Strategic Partnership with Acceleron to Advance CMT Treatment Options

"We are excited to establish this partnership with Acceleron as they work to advance their lead neuromuscular therapeutic candidate, ACE-083, through an ongoing Phase 2 trial in patients with CMT," said CMTA's CEO Amy Gray.

Volunteer Spotlight: Amy Keller

Amy Keller had always known about CMT as it runs in her family. But, as a healthy, active child who grew up into a symptom-free adult, it had never crossed her mind that she, too, would one day receive that same diagnosis.

The CMTA Announces the Funding of a New Research Study for CMT2A

The CMTA announces the funding of a clinical research study that will look at pulmonary function for people who have CMT Type 2A, with the aim of developing a night-time breathing treatment similar to CPAP for CMT2A patients.

STAR Launches Research for CMT4C

Completely funded by the CMTA, the 18-month project headed by Dr. Kleopas A. Kleopa of the Cyprus Institute of Neurology and Genetics will explore the possibility of using gene editing to treat CMT4C.