ALLMedicine™ Charcot-Marie-Tooth Disease Center
Research & Reviews 812 results
https://doi.org/10.1007/s10792-022-02452-w
International Ophthalmology; Kaplan AT, Oskan Yalcin S et. al.
Aug 12th, 2022 - To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot-Marie-Tooth (CMT) disease. Seventeen patients with CMT disease and 17 control subjects were included in the study. ...
https://clinicaltrials.gov/ct2/show/NCT02596191
Aug 2nd, 2022 - This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progr...
https://clinicaltrials.gov/ct2/show/NCT02600286
Jul 25th, 2022 - The disease Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy, for which no treatment has proved its effectiveness. It is autosomal dominant, associated with a duplication of the chromosome 17p11.2 regi...
https://doi.org/10.1097/JXX.0000000000000745
Journal of the American Association of Nurse Practitioners; Levkova M, Stoyanova M et. al.
Jun 23rd, 2022 - Next-generation sequencing (NGS) is now widely used in diagnosing rare diseases. However, it has some limitations, such as variants of uncertain significance (VUS). This can present difficulties even for nurse practitioners involved in clinical ge...
https://doi.org/10.1111/jns.12488
Journal of the Peripheral Nervous System : JPNS; Züchner S, Pareyson D
Jun 8th, 2022 - Charcot-Marie-Tooth disease in Africa.|2022|Züchner S,Pareyson D,|epidemiology,epidemiology,genetics,
Clinicaltrials.gov 18 results
https://clinicaltrials.gov/ct2/show/NCT02596191
Aug 2nd, 2022 - This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progr...
https://clinicaltrials.gov/ct2/show/NCT02600286
Jul 25th, 2022 - The disease Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy, for which no treatment has proved its effectiveness. It is autosomal dominant, associated with a duplication of the chromosome 17p11.2 regi...
https://clinicaltrials.gov/ct2/show/NCT05333406
May 13th, 2022 - It is the first in human (FIH), 3+3 design clinical trial to evaluate the safety and tolerability and determine the maximum tolerated dose (MTD) of EN001 (allogeneic umbilical cord-derived mesenchymal stem cells) in the treatment of Charcot-Marie-...
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...
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...
News 17 results
https://www.mdedge.com/internalmedicine/article/241103/diabetes/not-your-ordinary-neuropathy
Douglas S. Paauw, MD
Jun 4th, 2021 - A 56-year-old woman with type 2 diabetes presents for evaluation of painful neuropathy. She has had a diagnosis of type 2 diabetes for the past 4 years.
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...
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.
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.
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.