Author Archives: Patricia Inacio PhD

New Gene Mutation Linked to CMT4J in Woman, 62: Case Report

A 62-year-old woman was diagnosed with Charcot-Marie-Tooth (CMT) disease type 4J due to two alterations in the FIG4 gene — one of them a newly identified mutation — according to a case study. “The second mutation, c.2247dupC, p.Ser750GlnX10 is maternally inherited and not previously reported,” the researchers…

Older Adults With Sensory Nerve Problems May Not Have CMT

Older adults suspected of having Charcot-Marie-Tooth (CMT) disease, particularly those over age 60 with sensory nerve issues like numb hands or feet, may actually have hereditary transthyretin (ATTRv) amyloidosis, a Japanese study suggests. According to its researchers, these patients should undergo genetic testing for mutations in the TTR gene, the cause…

Armatus Bio to Lead Development of CMT1A Gene Therapy

Armatus Bio will now further develop a potential gene therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), aiming to conduct clinical trials. According to a press release from the CMT Research Foundation, which has been funding this therapy’s preclinical development, Armatus is in the process of licensing the gene therapy,…

CMT Association, Applied Team Up on Therapy for New Subtype

A new partnership is seeking to identify people with a mutation in the sorbitol dehydrogenase (SORD) gene — the cause of a newly identified type of Charcot-Marie-Tooth disease (CMT) — who may be eligible for clinical trials investigating potential treatments for this recessive subtype. In this collaboration, the Charcot–Marie–Tooth…

Research Alliance to Test CMT1A Oral Therapy in Preclinical Studies

The Charcot-Marie-Tooth Association (CMTA) and Addex Therapeutics are teaming up to investigate a potential oral therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), in rodent models of the disease. Established under the association’s Strategy to Accelerate Research (STAR), the collaboration’s goal is to study the benefits of Addex’s proprietary technology —…