At its recent annual meeting, The CMT Research Foundation (CMTRF), a patient-led non-profit focused on delivering treatments and cures for Charcot-Marie-Tooth disease* made changes in its leadership to support the next phase of the Foundation’s growth. The Foundation Board of Directors elected Peter de Silva as its new Chair replacing Patrick Livney, co-Founder of CMTRF and outgoing Board Chair, who has completed his term and will step away from day-to-day involvement.  The board has elected Mr. Livney Chair Emeritus in recognition of his vision and foresight in co-founding the CMT Resear ..read more

Riann Egusquiza (ryan egg-uh-ski-tha) PhD has joined The CMT Research Foundation (CMTRF), a patient-led, non-profit focused on delivering treatments and cures for CMT* as Director of Research, a newly created position.  She will report to Cleary Simpson, CMTRF’s CEO, and be responsible for overseeing all CMTRF-funded research and scientific programming for the Global CMT Research Convention providing guidance and advice on the direction and research priority areas for the grants program and the convention. Dr. Egusquiza will also lead the scientific communications to all stakeholders a ..read more

From a young age, Rivka knew that there was something different about her compared to her three siblings; that difference was Charcot-Marie-Tooth (CMT) disease. Meet Rivka Ligier, a CMT1B patient who is preparing to participate in this year’s Great Saunter, a one-day, 32-mile urban hike along the Manhattan shoreline. Every May, this event brings together thousands of people to celebrate individual effort and the physical and mental challenges that come with completing such a feat. This year, 12 people will be amongst those thousands representing Rivka, the CMT community, and the CMT R ..read more

The CMT Research Foundation (CMTRF) a non-profit focused solely on delivering treatments and cures for Charcot-Marie-Tooth disease (CMT)*, has partnered with Jenny Decker, a 40-year-old nurse battling CMT, a rare neurological disease with no known cure, who last summer launched an effort to become the first CMT patient to sail around the world by herself.  She estimates the trip – called Just A Lap – will take about 3 years. If successful, Ms. Decker will make it into the Guinness Book of World Records as the first person to solo-circumnavigate the globe with CMT, a hereditary diseas ..read more

NMD Pharma recently published data demonstrating that their drug candidate, NMD670, improves muscle function and neuromuscular transmission deficits in both animal models and patients. Dr. William David Arnold, a member of the CMTRF Scientific Advisory Board, who was part of the international project, comments on the importance of these findings for the CMT community: “NMD Pharma has uncovered a promising treatment approach to enhance neuromuscular junction transmission. Serving as the interface between the nervous system and muscles, the neuromuscular junction is vital for motor function ..read more

CMT1A is caused by a gene-copying event that results in the overproduction of the peripheral myelin protein 22 (PMP22) in Schwann cells. The excess PMP22 protein fails to traffic normally to the cell surface and instead collects inside the cells as clumps of proteins called “inclusions”, which disrupt the normal function of Schwann cells in producing myelin. Myelin is what constitutes the protective insulation wrapped around nerves.   This project by Dr. Sanders at Vanderbilt University seeks to discover lead molecules for development of drugs that can treat these underlying cause ..read more

The CMT Research Foundation, a non-profit focused solely on delivering treatments and cures for Charcot-Marie-Tooth disease (CMT), has partnered with the 1J Foundation, a 501(c)(3) organization dedicated to finding a cure for patients with 1J, a newly identified subtype of CMT. The two Foundations will co-fund the development of an ITPR3 gene mutation mouse model of CMT1J under the direction of Stephan Zuchner, MD, PhD at the University of Miami, FL. The ITPR3 gene is responsible for making a protein heavily abundant in the nervous system, especially in Schwann cells. It works as a calcium ..read more

CMT 1A results from the duplication of the myelin protein 22 gene (PMP22) in Schwann cells. This causes excessive production of the PMP22 protein which disrupts the myelination process of peripheral nerves and ultimately results in axonal loss and muscle wasting over an extended period. One promising approach to reducing PMP22 expression are antisense oligonucleotides (ASOs) targeted to PMP22 RNA within Schwann cells. ASOs are single stranded sequences of synthetic nucleic acids that are designed to bind to a specific RNA sequence. Binding of ASOs to that RNA can modulate protein expre ..read more

CMT Research Foundation (CMTRF), a patient-led, non-profit focused on delivering treatments and cures for Charcot-Marie-Tooth (CMT) disease, today announced that Santo Caivano, Director, Customer Engagements of Cisco’s CAP (Critical Accounts Program) Americas team, has joined the Foundation’s Board of Directors. “There is not another organization that has advanced the science of finding a cure for CMT more than the CMT Research Foundation,” says Mr. Caivano. “I am pleased to be part of such a progressive and focused team.” Mr. Caivano leads a team of Crisis and Escalation Managers dedicated to ..read more

Armatus Bio has partnered with Andelyn Biosciences, Inc., a cell and gene therapy Contract Development and Manufacturing Organization to accelerate manufacturing of an Amatus gene therapy treatment for Charcot-Marie-Tooth Type 1A. The goal is to maximize program efficiency and speed to clinical studies of this novel, precision approach. The decision to initiate manufacturing is based on promising preclinical data and is a critical step in moving toward clinical studies. The potential therapy is based on research that CMTRF funded by renowned neuromuscular dis ..read more