A common pathway malfunction was found to underlie Charcot–Marie–Tooth (CMT) disease subtypes 1C and 4J, despite different disease-causing mutations, a cell-based study has discovered. Researchers showed that when cells carrying different CMT-linked mutations were treated with a certain single small molecule,…
News
Structural changes to neuromuscular junctions — the sites where nerve and muscle cells communicate — were associated with degeneration in a mouse model of Charcot-Marie-Tooth disease type 2 subtype D (CMT2D), a study finds. Its investigators suggest that the findings help…
A new health-related quality of life (QOL) outcome measure has been developed and validated for children and adolescents with Charcot-Marie-Tooth disease (CMT) in a longitudinal study. The patient-reported measure was deemed sensitive and may be used to assess disease burden in clinical settings and remotely, as…
A group of researchers is inviting adult Charcot-Marie-Tooth disease (CMT) patients who have mobility or dexterity limitations and/or their caregivers to take an online survey regarding their experiences using medicines. The experiences that people living with CMT have had with medications may help researchers better understand treatment safety…
Mutations in the ITPR3 gene appear to cause an intermediate form of Charcot-Marie-Tooth disease (CMT) that shows axonal degeneration and demyelination, a recent study suggests. While IP3R3 — the protein coded by ITPR3 — is thought to be needed to maintain the protective myelin sheath, defects in…
People with Charcot-Marie-Tooth (CMT) and mutations in the MPZ gene have highly variable disease symptoms, according to a recent Japanese study, which found that these patients may be diagnosed with either demyelinating or axonal forms of the disorder. Notably, the MPZ genetic variations seen in Japanese patients are…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Ancora Innovation is funding a research project at Vanderbilt University aiming to realize potential new treatments for Charcot-Marie-Tooth disease (CMT), according to a university press release. The research will be led by Charles Sanders, PhD, a biochemistry professor and associate dean for research at Vanderbilt. Sanders and his…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
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