Charcot-Marie-Tooth News

June 18, 2021June 18, 2021

EveryLife Introduces First of Kind ‘Roadmap’ to ICD Codes

Charcot-Marie-Tooth News

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 ... Read more

June 17, 2021June 17, 2021

Get Ready for NORD’s Patient and Family Forum, Set for June 26-27

Charcot-Marie-Tooth News, COVID-19 News

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 ... Read more

June 16, 2021June 16, 2021

First Global CMT Research Convention Planned for September

Charcot-Marie-Tooth News

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. ... Read more

June 11, 2021June 11, 2021

Alpha Blue Ocean, Pharnext Strike Deal on PXT3003 Study

Charcot-Marie-Tooth News

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 ... Read more

June 9, 2021June 9, 2021

Rare 2030 Action Campaign Pushing for European Plan for Rare Diseases

Charcot-Marie-Tooth News

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 ... Read more

June 4, 2021June 4, 2021

Rare CMT Type F Described by Variable Clinical, MRI Findings

Charcot-Marie-Tooth News

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 ... Read more

June 4, 2021June 4, 2021

Advocates Can Try for Grants Ahead of Rare Disease Week on Capitol Hill

Charcot-Marie-Tooth News

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 ... Read more

June 2, 2021June 2, 2021

Double HSPB1 Mutations Linked to CMT2F in Two Patients

Charcot-Marie-Tooth News

Researchers identified double disease-causing HSPB1 mutations in two unrelated adults with Charcot-Marie-Tooth disease type 2 subtype F (CMT2F), according to a case report. While mutations in the HSPB1 gene have been ... Read more

May 28, 2021May 28, 2021

Diabetes Co-occurring With CMT1A Led to Misdiagnosis

Charcot-Marie-Tooth News

A man with a rare case of diabetes complicating Charcot-Marie-Tooth disease (CMT) had a recurrent foot ulcer that originally was misdiagnosed as diabetic foot. That finding in a case report ... Read more

May 26, 2021May 26, 2021

MPZ Deficiency Mutations Linked to Milder Neuropathy in CMT1B

Charcot-Marie-Tooth News

Mild sensory neuropathy was found in a group of Charcot-Marie-Tooth disease type 1 subtype B (CMT1B) patients with myelin protein zero (MPZ) gene mutations that cause insufficient levels of MPZ ... Read more

May 21, 2021May 21, 2021

Gene Therapy Extends Life, Nerve Defects in CMT4J Mice

Charcot-Marie-Tooth News

In a mouse model of Charcot-Marie-Tooth disease type 4J (CMT4J), gene therapy administered in the first few days of life significantly prolonged survival and eased motor and nerve defects.  The ... Read more

May 19, 2021May 19, 2021

Gene Therapy Strategy Curbed Disease Features in CMT1A Rat Model

Charcot-Marie-Tooth News

A form of gene therapy that reduces levels of the PMP22 protein prevented the development of Charcot-Marie-Tooth disease 1A (CMT1A) features in a rat model, a study has found.  The ... Read more

May 14, 2021May 14, 2021

MORC2 Mutation Causes Severe Neuropathy in CMT2Z, Case Report Finds

Charcot-Marie-Tooth News

Three people from two unrelated families were found to have Charcot-Marie-Tooth disease type 2Z (CMT2Z) caused by the same MORC2 mutation, called p.Ala406Val, which was linked to severe neuropathy, a case ... Read more

May 12, 2021May 12, 2021

New Mutation in PMP22 Gene Linked to CMT3 in Chinese Patient

Charcot-Marie-Tooth News

Scientists have pinpointed a new genetic mutation in the PMP22 gene as the cause of Charcot-Marie-Tooth disease type 3 (CMT3) in a 26-year-old Chinese man. Titled “A novel PMP22 insertion mutation ... Read more

May 7, 2021May 8, 2021

Cell-targeted Gene Therapy May Reverse Nerve Damage in CMTX1

Charcot-Marie-Tooth News

A single dose of a gene therapy delivering a working copy of GJB1 — the gene mutated in X-linked Charcot-Marie-Tooth type 1 disease (CMTX1) — to myelin-producing cells prevented or ... Read more