Last update 21 Mar 2024

Endplate Acetylcholinesterase Deficiency

Last update 21 Mar 2024

Basic Info

Synonyms

CMS Ic, FORMERLY, CMS1C, FORMERLY, CMS5

+ [13]

Introduction

Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.

Drugs associated with Endplate Acetylcholinesterase Deficiency

L-Serine

Target-

Mechanism-

Active Org.

Dartmouth-Hitchcock Medical Center

Originator Org.-

Active Indication-

Inactive Indication

Alzheimer Disease [+11]

Drug Highest PhasePhase 2

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Endplate Acetylcholinesterase Deficiency

NCT04808960 / Unknown statusNot ApplicableIIT

Structural Vertebral Endplate Defects: Detection and Characterization on Clinical-CT and Micro-CT: A Diagnostic Test Validity Study

Back pain is the most common cause of disability with a substantial burden on affected individuals, their families and society. Unfortunately, the causes of back pain are not well understood, hindering the development of effective prevention and treatment approaches. Until recently, the thin interface structure (endplate) between the vertebrae and the intervertebral disc has attracted attention as a possible contributor to back pain problems. However, the absence of clear descriptions for endplate defects has clouded associations with back pain and other imaging findings, which is problematic for measurement reliability. Thus, with CT, as with MRI, the varied measurement methods used to document the appearance of endplate defects on clinical imaging in the scientific literature, and the absence of validation of measurements of such methods leaves uncertainty about what the observations on clinical imaging actually represent.
Furthermore, Clinical CT is one of the most common imaging modalities used for the spine. On the other hand, Micro-CT, which produces accurate and reproducible measurements, has been used as a reference standard. The planned study will provide information that is critical for establishing meaningful standards for the evaluation and interpretation of endplate defects on clinical imaging, as well as for studies of their etiology and clinical consequences.
The study comprises 19 spines from 9 male and 10 female cadavers aged between 62 to 91 years from Western. Clinical-CT scans acquired on the cadavers will be assessed independently by two experienced imaging scientists (radiologists) and a graduate student studying endplate defects. A master's student in Clinical Anatomy has assessed and documented endplate defects on micro-CT, the reference standard. For the purpose of training and to identify practical issues in the evaluation process; four joint training sessions were organized for the raters to evaluate training sets of clinical CT images and discuss practical issues, using an evaluation manual consisting of measurement descriptions and figures. All the raters indicated satisfaction with the understanding and ability to use each measurement method. Thereafter, the three raters will independently assess the clinical CT for endplate defect presence, types, size and location. Endplate defects will be assessed with two weeks between measurements. Data will be imported into a secured computer for analysis.

Start Date17 Sep 2020

Sponsor / Collaborator

University of Western Ontario

[+1]

NCT03062449 / Active, not recruitingPhase 2IIT

A Phase IIa Proof of Concept, Randomized, Double-blind, Placebo-controlled Study of the Effects of L-serine on Early Stage Alzheimer's Disease Patients

This is a Phase IIa, randomized, double-blind, placebo controlled trial. Subjects for participation in this study will be identified by the Investigator based on their Clinical Dementia Rating score which will be completed as part of standard practice. Patients meeting the criteria for early Alzheimer's disease will be considered for study participation, with the Investigator taking the additional inclusion/exclusion criteria into consideration. Up to 40 subjects will be enrolled. Subjects participating in the study will be randomized to receive either gummies containing L-Serine or placebo gummies, with the Investigator and study staff blinded to the group assignments.

Start Date01 Mar 2017

Sponsor / Collaborator

Dartmouth-Hitchcock Medical Center

[+1]

NL-OMON29265 / SuspendedNot Applicable

Arterial Reperfusion or Portal Reperfusion First in Liver Transplantation usingDonation after Circulatory Death donors

Start Date01 Jul 2014

Sponsor / Collaborator

Erasmus MC

100 Clinical Results associated with Endplate Acetylcholinesterase Deficiency

100 Translational Medicine associated with Endplate Acetylcholinesterase Deficiency

0 Patents (Medical) associated with Endplate Acetylcholinesterase Deficiency

772

Literatures (Medical) associated with Endplate Acetylcholinesterase Deficiency

14 Feb 2024·Journal of clinical medicine

Clinical Outcomes of Lateral Lumbar Interbody Fusion with Percutaneous Pedicle Screw for Dialysis-Related Spondyloarthropathy.

Article

Author: Shigeyuki Kitanaka ; Ryota Takatori ; Hitoshi Tonomura ; Yuichi Shimizu ; Masateru Nagae ; Atsushi Makinodan ; Kenji Takahashi

Background: The usefulness and problems with lateral lumbar interbody fusion (LLIF) with a percutaneous pedicle screw (PPS) for dialysis-related spondyloarthropathy are not clear. Therefore, we investigated the usefulness and problems with LLIF with PPS in dialysis-related spondyloarthropathy. Methods: In total, 77 patients who underwent LLIF with PPS were divided into two groups: the dialysis-related spondyloarthropathy group ("Group D") consisted of 15 patients (10 males and 5 females) with a mean age of 70.4 years and a mean duration of hemodialysis of 10.8 years; and the lumbar degenerative disease group ("Group L") included 62 patients (31 males and 31 females) with a mean age of 71.0 years. The mean follow-up period was 4 years in Group D and 3 years 9 months in Group L. We compared surgical invasiveness (operative time, blood loss), perioperative complications, clinical outcomes (Improvement ratio of the JOA score), bone fusion rate, reoperation, sagittal alignment, and coronal imbalance between the two groups. Results: There were no significant differences in operative time, blood loss, or the improvement ratio of the JOA score, but dialysis-related spondyloarthropathy was observed in one patient with superficial infection, three patients with endplate failure, and one patient with restenosis due to cage subsidence. Conclusions: We consider LLIF with PPS for dialysis-related spondyloarthropathy to be an effective treatment option because its surgical invasiveness and clinical outcomes were comparable to those for cases of lumbar degenerative disease. However, as endplate failure due to bone fragility and a reduced bone fusion rate were observed in dialysis spondylolisthesis cases, we advise a careful selection of indications for indirect decompression as well as the application of suitable pre- and postoperative adjuvant therapies.

28 Jan 2024·Journal of clinical and translational hepatology

L-GrAFT₇ has High Accuracy in Predicting Early Allograft Failure after Liver Transplantation: A Multicenter Cohort Study in China.

Article

Author: Songming Li ; Qijie Luo ; Shirui Chen ; Zehua Jia ; Tielong Wang ; Xinyu Yu ; Wenjing Wang ; YuyiZhang ; Jiaxing Zhu ; Feiwen Deng ; Qiang Sun ; Zhiyong Guo ; Xiaoshun He

Background and Aims:

Increasing utilization of extended criteria donor leads to an increasing rate of early allograft failure after liver transplantation. However, consensus of definition of early allograft failure is lacking.

Methods:

A retrospective, multicenter study was performed to validate the Liver Graft Assessment Following Transplantation (L-GrAFT) risk model in a Chinese cohort of 942 adult patients undergoing primary liver transplantation at three Chinese centers. L-GrAFT (L-GrAFT₇ and L-GrAFT₁₀) was compared with existing models: the Early Allograft Failure Simplified Estimation (EASE) score, the model of early allograft function (MEAF), and the Early Allograft Dysfunction (EAD) model. Univariate and multivariate logistic regression were used to find risk factors of L-GrAFT high-risk group.

Results:

L-GrAFT₇ had an area under the curve of 0.85 in predicting 90-day graft survival, significantly superior to MEAF [area under the curve (AUC=0.78, p=0.044)] and EAD (AUC=0.78, p=0.006), while there was no statistical significance between the predicting abilities of L-GrAFT₇ and EASE (AUC=0.84, p>0.05). Furthermore, L-GrAFT₇ maintains good predicting ability in the subgroup of high-donor risk index (DRI) cases (AUC=0.83 vs. MEAF, p=0.007 vs. EAD, p=0.014) and recipients of donors after cardiac death (AUC=0.92 vs. EAD, p<0.001). Through multivariate analysis, pretransplant bilirubin level, units of packed red blood cells, and the DRI score were selected as independent risk factors of a L-GrAFT₇ high-risk group.

Conclusions:

The accuracy of L-GrAFT₇ in predicting early allograft failure was validated in a Chinese multicenter cohort, indicating that it has the potential to become an accurate endpoint of clinical practice and transitional study of machine perfusion.

23 Jan 2024·Cutaneous and ocular toxicology

Clinical features and biomarker differences of severe intrinsic and extrinsic atopic dermatitis.

Article

Author: Zhong Liu ; Zeqi Shi ; Yunhua Deng

OBJECTIVES:

Atopic dermatitis (AD) can be classified into intrinsic AD(IAD) and extrinsic AD(EAD). However, the differences in clinical features and pathogenesis between these two subtypes of AD are currently unclear. This study aimed to analyse the differences in clinical features and peripheral blood biomarkers between Chinese patients with severe IAD and EAD in order to elucidate the physiopathogenesis of AD.

MATERIALS AND METHODS:

A total of 316 hospitalised patients definitively diagnosed with severe AD were included in this study. There were 72 cases of severe IAD and 244 cases of severe EAD. The clinical features of the patients were recorded in details. Serum total IgE, IgA, IgG, IgM, complementC3/C4, peripheral blood cell counts, lactate dehydrogenase (LDH), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), IL-2R, IL-6, IL-8, and TNF-α in AD patients and 60 age-matched healthy controls were analysed. IAD and EAD had similar severity/Scoring Atopic Dermatitis (SCORAD) scores.

RESULTS:

Compared with healthy controls, IAD patients had significantly higher total IgE, eosinophils, monocytes, LDH, CRP, IL-2R, IL-6, IL-8 and TNF-α, and lower IgM and C4. EAD patients had significantly higher total IgE, IgA, eosinophils, white blood cell (WBC) counts, neutrophils, monocytes, basophils, LDH, CRP, IL-2R, IL-6, IL-8, TNF-α and lower IgM than healthy controls. IAD patients had a higher percentage of rural/urban living and female/male, a shorter course of disease and lower total IgE, eosinophils, WBC counts, neutrophils, monocytes, basophils, LDH, IgG and C4 than EAD patients. SCORAD scores, eosinophils, LDH expression levels increased with total IgE uniquely in patients with EAD.

CONCLUSIONS:

IAD and EAD exhibit specific clinical features and molecular changes. IAD has a more complex physiopathogenesis, and deserves further investigation.

News (Medical) associated with Endplate Acetylcholinesterase Deficiency

12 Jul 2023

·www.biospace.com

Advancing Transplantation Technologies: Bridge to HOPE Trial Demonstrates Promising Findings with Hypothermic Oxygenated Perfusion

NORTHBROOK, Ill., July 12, 2023 /PRNewswire/ -- Bridge to Life Ltd., a leading global supplier of organ preservation and perfusion technologies, announced results from interim analysis of its multicenter, randomized, controlled liver clinical trial presented at the 2023 American Transplant Congress (ATC). We are hopeful that the research will lead to continued advancement of care for transplant patients. The Bridge to HOPE Trial is being conducted under U.S. Food and Drug Administration (FDA) approved investigational device exemption (IDE) to evaluate the clinical safety and efficacy of static cold storage (SCS), the current standard for ex-vivo organ preservation, compared to SCS followed by hypothermic oxygenated perfusion (HOPE) with the VitaSmart™ Liver Machine Perfusion System. Results from the planned interim analysis of the first 170 enrolled patients undergoing liver transplantation show a lower rate of early allograft dysfunction (EAD) in the HOPE arm (19%) compared to the SCS arm (39%), a statistically superior finding for the trial's primary endpoint. Trial results favor HOPE over SCS for other endpoints including: HOPE achieved 100% liver graft survival at 6 months, while SCS achieved 91% HOPE had a median hospital stay of 9.5 days, compared to 11.4 days for SCS Biopsy-proven liver rejection at 6 months was lower in HOPE (10%) compared to SCS (18%) Donation after circulatory death livers treated with HOPE had less ischemic cholangiopathy compared to SCS (5% vs. 14%), with 3 cases requiring re-transplant in the SCS arm compared to one in the HOPE arm These benefits were observed without device-related serious adverse events. Interim analysis trial results were recently presented at the ATC 2023 by David J. Reich, MD, Surgical Director of the Liver Transplant Program and Chief of Innovative Technology and Therapeutics at the Cleveland Clinic Transplant Center in Weston, FL and Lead Investigator for the Bridge to HOPE Trial. "The Bridge to HOPE interim study results are an encouraging contribution to the field of dynamic organ preservation that has increased transplant availability and improved recipient outcomes," said Dr. Reich. "We are hopeful that the research will lead to continued advancement of care for transplant patients." "We're excited about these safety and efficacy findings for HOPE and VitaSmart," said Bridge to Life Chief Executive Officer Don Webber. "The trial investigators and study team have done outstanding work to reach the interim analysis milestone well ahead of schedule. We're looking forward to results from continued follow-up of trial participants and to presenting this encouraging data to FDA." Patients in the Bridge to HOPE Trial will be followed for 12 months after transplant surgery. View original content to download multimedia: SOURCE Bridge to Life Ltd.

Clinical ResultClinical Study

09 Nov 2022

·www.prnewswire.com

Bridge to Life Ltd. Announces Early Results From Its Pivotal Bridge to HOPE Liver Clinical Trial

NORTHBROOK, Ill., Nov. 9, 2022 /PRNewswire/ -- Bridge to Life, Ltd. ("Bridge to Life" or the "Company"), a leading global supplier of organ preservation solutions and organ perfusion technologies, announced early results from its multicenter, randomized, controlled Bridge to HOPE Liver Clinical Trial (NCT05045794). Continue Reading VitaSmart™ Liver Machine Perfusion System The Bridge to HOPE trial is being conducted under U.S. Food and Drug Administration (FDA) approved investigational device exemption (IDE) to evaluate the clinical safety and efficacy of static cold storage (SCS), the current standard for ex-vivo organ preservation, compared to cold storage followed by hypothermic oxygenated perfusion (HOPE) with the VitaSmart™ Liver Machine Perfusion System. Results from the first 61 enrolled patients undergoing liver transplantation demonstrate a lower rate of early allograft dysfunction (EAD) in the HOPE arm (22%) compared to the SCS arm (34%), a promising trend in the trial's primary endpoint. Additionally, median length of hospital stay post-transplantation is trending shorter in the HOPE arm (9.5 days) than in the SCS group (11.4 days). To date, no device related serious adverse events or patient deaths have been reported. Early trial results were presented on November 7 at the American Association for the Study of Liver Diseases 2022 Meeting by David J. Reich, MD, Surgical Director of the Liver Transplant Program and Chief of Innovative Technology and Therapeutics at the Cleveland Clinic Transplant Center in Weston, FL and Lead Investigator for the Bridge to HOPE Trial. "I am thrilled with these efficacy and safety results and enthusiastic about being closer to providing widespread access to this game changing innovative technology to help patients and transplant centers," said Dr. Reich. The presentation was selected for inclusion in the prestigious "Best of the Liver Meeting" category. "We're very excited about these early trends in that they corroborate results from research in Europe where the VitaSmart System is already in commercial use," said Bridge to Life Chief Executive Officer Don Webber. "The hard work and dedication of participating transplant center teams and other trial partners has been critical to our enrollment success and brings us one step closer to offering this cost-effective technology to improve outcomes at U.S. transplant programs." The Bridge to HOPE Trial has enrolled 115 transplanted patients to date and is on track to complete target enrollment of up to 244 transplanted patients by late 2023. About Bridge to Life Bridge to Life is a recognized leader in organ preservation. The company distributes its products in over 60 countries and also has devices in development at its Edmonton, Alberta design center for lung and heart perfusion. Through a strong focus on collaboration with surgeons and transplant professionals, Bridge to Life continues to explore emerging science and preservation technologies. Media Contact: Cynthia Willis [email protected] 704-998-9444 SOURCE Bridge to Life Ltd.

Analysis

Perform a panoramic analysis of this field.

view full example data

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Leverages most recent intelligence information, enabling fullest potential.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis