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Applied Therapeutics Announces Positive Sorbitol Reduction Data From the Ongoing Phase 3 INSPIRE Trial in Sorbitol Dehydrogenase (SORD) Deficiency
…evaluating the effect of once-daily oral AT-007 in approximately 50 patients age 16-55 with SORD Deficiency in the US and Europe. SORD Deficiency (also called SORD Neuropathy or CMT-SORD) is…
Awareness Month: A STAR Researcher’s Perspective
…ten years that we’ve been trying to develop gene therapy initially for the x-linked type of CMT and, more recently, also for CMT4C, CMT1A and CMT2A. We work very hard…
Sperm Donor with Gene for Charcot-Marie-Tooth Disease Passes It on to Multiple Families
…using Donor X’s sperm. Both have a rare form of CMT—Dominant Intermediate B, a group of CMT subtypes in which nerve conduction does not comport with either axonal CMT or…
Genetics-of-CMT
Type 2 Update: One Patient’s Diagnostic Odyssey with SORD
…the drug basically cured CMT in fruit flies. “This is a remarkable discovery only possible due to large scale genomic data aggregation from volunteering CMT patients,” he added. Dr. Züchner,…
CMT Fact sheet_1-2020
CMT_Fact_Sheet
Inherited Neuropathies Consortium Study 6611: Charcot-Marie-Tooth disease Infant Scale
…disability that is already in place. Clinical outcome assessments have been developed for adults (CMT Neuropathy Score (CMTNS)) and for children 3 years of age and older (CMT Pediatric Scale…
INC Research Study 6602: Genetics of Charcot Marie Tooth Disease
CMTA-Funded Research Database for CMT2 Identifies New Disease-Causing Mutations While researchers have identified more than 90 mutated genes that cause CMT, approximately 50 percent of CMT2 patients do not yet…