News

July 1, 2020July 1, 2020

DTx Pharma Study Discovers Multiple Therapeutic Candidates for CMT1A

News

DTx Pharma has discovered new molecules that could be treatment candidates for Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A), reaching the second milestone of a study designed to find molecules ... Read more

June 26, 2020June 26, 2020

Problems with Mitochondria of Neurons May Underlie CMTX6, Study Finds

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Problems with energy production and mitochondria, the powerhouses of cells, may be the underlying cause of an X-linked form of Charcot-Marie-Tooth disease (CMT) called CMTX6, a study in patient-derived ... Read more

June 23, 2020June 23, 2020

mTORC1 Overactivation Linked to CMT4B Myelin Defects, Early Study Shows

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Mutations that cause Charcot-Marie-Tooth disease type 4B (CMT4B) lead to an increase in the activity of a protein called mTORC1 that is responsible for the problems with myelin that characterize ... Read more

June 22, 2020June 22, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

News, syndicated

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will ... Read more

June 19, 2020June 19, 2020

Hearing Difficulties in CMT Linked to Nerve Signaling Problems in Study

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People with Charcot-Marie-Tooth disease (CMT) may have difficulties in understanding speech, even in the absence of hearing loss, caused by problems with the nerve cells that carry signals from ... Read more

June 16, 2020June 16, 2020

Pharnext Plans Final Trial to Support PXT3003 Approval for CMT1A

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With guidance from the U.S. Food and Drug Administration (FDA), Pharnext is planning a pivotal, final Phase 3 clinical trial of its investigational therapy PXT3003 for the treatment of ... Read more

June 12, 2020June 12, 2020

Copy Number Variations Helpful in Spotting Potential CMT Mutations

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Testing for large deletions or duplications in certain DNA regions, a form of mutation called copy number variations, is important in identifying new mutations that cause Charcot-Marie-Tooth disease (CMT), ... Read more

June 9, 2020June 9, 2020

Changes in Sciatic Nerve of Thigh May Reflect Disability in CMT1a Patients

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Changes to nerve tissue in the thigh appear to relate to clinical disability in people with Charcot-Marie-Tooth disease type 1a (CMT1a), and may be used to assess the disease’s ... Read more

June 9, 2020June 10, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

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The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis ... Read more

June 5, 2020June 5, 2020

Disease in Family Traced to 2 Separate Mutations Working ‘in Tandem’

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A mutation in the EGR2 gene that by itself does not cause disease was seen to result in Charcot–Marie–Tooth disease in a Spanish family, due to the concurrent presence of another ... Read more

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