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About 2,140 results

ALLMedicine™ Charcot-Marie-Tooth Disease Center

Research & Reviews  812 results

Evaluation of optical coherence tomography findings and visual evoked potentials in Cha...
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. ...

Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
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...

Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
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...

Variants of uncertain significance in the era of next-generation sequencing.
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...

Charcot-Marie-Tooth disease in Africa.
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,

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Clinicaltrials.gov  18 results

Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
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...

Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
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...

Determine the Safety and Dose of EN001 in Patients With Charcot-Marie-Tooth Disease (CMT) Type 1A
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-...

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...

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News  17 results

Not your ordinary neuropathy
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.

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.

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Patient Education  9 results see all →