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About 1,985 results

ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  766 results

A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropa...
https://doi.org/10.1172/JCI159814
The Journal of Clinical Investigation; Stavrou M, Kagiava A et. al.

May 18th, 2022 - Charcot-Marie-Tooth disease type 1A (CMT1A), the most common inherited demyelinating peripheral neuropathy, is caused by PMP22 gene duplication. Over-expression of wild-type PMP22 in Schwann cells destabilizes the myelin sheath, leading to demyeli...

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth d...
https://doi.org/10.1007/s10048-022-00693-6 10.1097/WCO.0000000000000735 10.1016/j.neurol.2016.06.007 10.1038/gim.2015.30 10.1016/0092-8674(91)90613-4 10.1038/ng1193-269 10.1006/bbrc.1993.1968 10.1126/science.8266101 10.1002/ana.22166 10.1002/mgg3.106 10.1136/jnnp-2014-308826 10.1136/jnnp-2012-302451 10.1212/WNL.0b013e3182a9f56a 10.1016/j.nmd.2013.05.005 10.1111/jns.12092 10.1038/jhg.2013.15 10.1002/mus.27368 10.1034/j.1399-0004.2000.580511.x 10.1002/mus.21932 10.5137/1019-5149.JTN.33661-21.3 10.1212/NXG.0000000000000621 10.4274/balkanmedj.galenos.2021.2021-11-13 10.1136/jmedgenet-2019-106641 10.1016/j.nmd.2017.08.007 10.1007/s10072-017-2905-x 10.1016/j.ejmg.2018.04.003 10.1016/j.brainres.2012.03.068 10.1212/01.wnl.0000256709.08271.4d 10.1007/s004390050442 10.4103/0366-6999.204925 10.1002/acn3.347 10.1111/ene.14950 10.3389/fnmol.2018.00227 10.1002/mus.20166 10.1212/wnl.51.5.1412 10.1385/nmm:8:1-2:75 10.1007/s11910-010-0158-7 10.1074/jbc.R110.217067 10.1212/01.wnl.0000133211.40288.9a 10.1086/375034 10.1093/hmg/ddg030 10.1074/jbc.M505159200 10.1093/brain/awg059 10.1086/302962 10.1007/s10048-002-0138-4 10.1007/s00415-015-7709-4 10.1038/jhg.2008.13 10.1002/ana.21728 10.1093/hmg/ddl011 10.1002/mgg3.390 10.2174/1389202919666180330153316
Neurogenetics Karakaya T, Turkyilmaz A et. al.

May 14th, 2022 - Charcot-Marie-Tooth (CMT) disease represents a distinct subgroup of inherited peripheral neuropathies with a significant prevalence throughout the world and manifests both phenotypic and genetic heterogeneity. Electrophysiological studies subclass...

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease.
https://doi.org/10.1212/WNL.0000000000200325
Neurology Thomas FP, Brannagan TH et. al.

May 12th, 2022 - To determine whether locally acting ACE-083 is safe, well tolerated, and increases muscle volume, motor function, and quality of life (QoL) in adults with Charcot-Marie-Tooth disease (CMT) type 1. This phase 2 study enrolled adults with CMT1 or CM...

The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
https://clinicaltrials.gov/ct2/show/NCT05361031

May 4th, 2022 - There are no therapeutic agents for CMT to date. Attempts were made to develop therapeutic agents, but efficacy could not be demonstrated in clinical studies. Most of the attempted developments for therapeutic agents targeted alleviating the sympt...

Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with l...
https://doi.org/10.1016/j.nmd.2022.04.002
Neuromuscular Disorders : NMD; Koike H, Furukawa S et. al.

May 3rd, 2022 - Focal thickening of the myelin sheath, also known as tomacula, is a characteristic pathological feature of patients with hereditary neuropathy with liability to pressure palsies (HNPP). However, a deeper understanding of the pathology underlying u...

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Clinicaltrials.gov  8 results

The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
https://clinicaltrials.gov/ct2/show/NCT05361031

May 4th, 2022 - There are no therapeutic agents for CMT to date. Attempts were made to develop therapeutic agents, but efficacy could not be demonstrated in clinical studies. Most of the attempted developments for therapeutic agents targeted alleviating the sympt...

The Impact of Charcot-Marie-Tooth Disease in the Real World
https://clinicaltrials.gov/ct2/show/NCT03782883

Apr 29th, 2022 - The registry uses Vitaccess' digital real-world evidence platform and has been developed in collaboration with CMT experts, Patient Advocacy Organizations (PAOs) and the biopharmaceutical company Pharnext. Eligible participants install a study app...

Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
https://clinicaltrials.gov/ct2/show/NCT05142059

Dec 20th, 2021 - Charcot-Marie Tooth disease is the most frequent and common inherited neuropathy with the various forms and subtypes. The CMT-1A is the most frequent form of the disease and represents more than eighty percent of the all subtypes. In view of diffe...

Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
https://clinicaltrials.gov/ct2/show/NCT03124459

Jul 28th, 2021 - Part 1 (non-randomized, open-label, dose-escalation) Part 1 will consist of up to 3 cohorts of 6 patients each and will evaluate multiple ascending dose levels of ACE-083 administered bilaterally once every 3 weeks for up to 5 doses in the tibiali...

Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
https://clinicaltrials.gov/ct2/show/NCT03966287

Nov 5th, 2020 - Hereditary neuropathies are a group of clinically and genetically heterogeneous diseases of the peripheral nervous system. Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy (HMSN), is the most common form of ...

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News  11 results

Theatrics, Hypnosis, and the Roots of Modern Neurology
https://www.medscape.com/viewarticle/947504

Mar 15th, 2021 - "Symptoms, then, are in reality nothing but a cry from suffering organs" – Jean-Martin Charcot Nearly 130 years after his death, Jean-Martin Charcot's name still resonates with modern neurologists. The famed 19th century French physician made myri...

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/internalmedicine/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light?channel=53
Tara Haelle

Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.

Next-generation sequencing can shed light on neuropathy etiology
https://www.mdedge.com/neurology/article/210459/neuromuscular-disorders/next-generation-sequencing-can-shed-light
Tara Haelle

Oct 20th, 2019 - AUSTIN, TEX. – Patients with peripheral neuropathy may benefit from genetic testing to determine of the cause of their neuropathy even if they do not have a family history of the condition, according to new research.

Patients with Charcot-Marie-Tooth disease describe wide range of care
https://www.mdedge.com/neurology/article/210443/neuromuscular-disorders/patients-charcot-marie-tooth-disease-describe-wide
Jake Remaly

Oct 19th, 2019 - AUSTIN, TEX. – Patients with Charcot-Marie-Tooth disease (CMT) receive a range of supportive care that includes physical therapy, surgery, medications, orthoses, and walking aids, according to patient-reported data presented at the annual meeting.

Painful autoimmune neuropathy may mimic Guillain-Barré syndrome
https://www.mdedge.com/neurology/article/143060/neuromuscular-disorders/painful-autoimmune-neuropathy-may-mimic-guillain
Lori Laubach

Jul 24th, 2017 - Patients with an acute transient immune response that is directed against small nerve fibers can display features similar to those of Guillain-Barré syndrome, according to Nobuhiro Yuki, PhD, and associates. The investigators described three Chine.

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Patient Education  9 results see all →