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Rare Disease Network for Myasthenia Gravis

重症肌无力罕见疾病网络

基本信息

批准号：
10645043
负责人：
HENRY J KAMINSKI
金额：
$ 153.44万
依托单位：
GEORGE WASHINGTON UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2019
资助国家：
美国
起止时间：
2019-09-01 至 2024-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10645043
关键词：
Achievement Address Adverse effects Affect Antibodies Autoantibodies Awareness B-Cell Activation Biological Biological Markers Characteristics Cholinergic Receptors Clinical Clinical Data Clinical Investigator Clinical Research Clinical Trials Clinical and Translational Science Awards Collaborations Collection Communities Data Data Coordinating Center Dedications Development Disease Failure Fc Receptor Foundations Functional disorder Funding Mechanisms Goals Industry Infrastructure Injury Investigation Link MUSK gene Mediating Monitor Muscular Dystrophies Myasthenia Gravis Natural History Neuromuscular Junction Outcome Outcome Measure Patient Care Patient Monitoring Patients Performance Phase Physicians Pilot Projects Prediction of Response to Therapy Process Quality of life Rare Diseases Reporting Research Research Personnel Resources Sampling Scientist Specimen Subgroup Therapeutic Thymoma Training Woman Work biomarker discovery career clinical care clinical development clinical outcome measures clinical practice clinical trial readiness design drug efficacy early onset early phase clinical trial improved individual patient individualized medicine inhibitor member men multicatalytic endopeptidase complex next generation patient advocacy group patient engagement patient response phase 2 testing podcast predictive marker programs prospective research and development response safety assessment therapeutic development therapeutic target web site

项目摘要

The goal of this proposal is to develop a RDCRC dedicated to myasthenia gravis (MGNet). Myasthenia gravis has a well-defined pathophysiology of autoantibody-mediated injury to the neuromuscular junction, but distinct sub-types exist with unique underlying pathophysiology and patient needs. Therapies exist but patient care is compromised by an absence of a cure, poor adverse effect profiles of treatments, highly variable response to existing treatments, and a poor quality of life as reported by patients. Further, therapeutic development in the field is compromised by a lack of adequate natural history data for all MG subtypes and a lack of treatment responsive biomarkers. Despite a few rigorously performed clinical trials, the failure of several phase 2 and 3 studies to support efficacy of drugs with validated biological targets indicates that MG trials require improvements in design and outcome measures. These challenges are made more difficulty by the existence of clinically and biologically distinct sub- types. These groups are 1) early-onset acetylcholine receptor (AChR) antibody (Ab) positive MG, which primarily affects women, 2) late-onset AChR Ab positive MG with a disease bias towards men 3) paraneoplastic thymoma-associated MG, 4) muscle specific kinase (MuSK) Ab positive, and 5) AChR/MuSK antibody negative MG. MGNet proposes the following Specific Aims: 1) Enhance clinical trial readiness through rigorous prospective monitoring of patients to define disease variability and refine clinical outcome measures. 2) Identify treatment-predictive and -responsive biomarkers to enhance early-phase clinical trial performance and identify suitable candidates for pivotal trials, improve monitoring in day-to-day clinical practice, and provide potential therapeutic targets. 3) Enhance the pool of young investigators focusing their careers on rare diseases and specifically MG. 4) Improve the awareness of scientists, physicians, and lay public regarding the unique needs of patients with MG. Successful achievement our objectives will establish a disease-specific infrastructure of biological samples and best practices which will provide a unique resource for academics and industry for access to biological samples for discovery purposes and development of clinical trials. During this process we will train clinician scientists and engage the patient and scientific communities in clinical research and therapeutic development.

本提案的目标是开发一个专门用于重症肌无力（MGNet）的RDCRC。

项目成果

期刊论文数量（13）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

The best and worst of times in therapy development for myasthenia gravis.

重症肌无力治疗发展的最佳和最差时期。

DOI：
10.1002/mus.27742
发表时间：
2023
期刊：
Muscle & nerve
影响因子：
3.4
作者：
Benatar,Michael;Cutter,Gary;Kaminski,HenryJ
通讯作者：
Kaminski,HenryJ

Measuring Overall Severity of Myasthenia Gravis (MG): Evidence for the Added Value of the MG Symptoms PRO.

DOI：
10.1007/s40120-023-00464-x
发表时间：
2023-10
期刊：
NEUROLOGY AND THERAPY
影响因子：
3.7
作者：
Regnault, Antoine;Morel, Thomas;de la Loge, Christine;Mazerolle, Flora;Kaminski, Henry J.;Habib, Ali A.
通讯作者：
Habib, Ali A.

Eye Segmentation Method for Telehealth: Application to the Myasthenia Gravis Physical Examination.

DOI：
10.3390/s23187744
发表时间：
2023-09-07
期刊：
Sensors (Basel, Switzerland)
影响因子：
0
作者：
Lesport Q;Joerger G;Kaminski HJ;Girma H;McNett S;Abu-Rub M;Garbey M
通讯作者：
Garbey M

Epidemiological evidence for a hereditary contribution to myasthenia gravis: a retrospective cohort study of patients from North America.

DOI：
10.1136/bmjopen-2020-037909
发表时间：
2020-09-18
期刊：
BMJ open
影响因子：
2.9
作者：
Green JD;Barohn RJ;Bartoccion E;Benatar M;Blackmore D;Chaudhry V;Chopra M;Corse A;Dimachkie MM;Evoli A;Florence J;Freimer M;Howard JF;Jiwa T;Kaminski HJ;Kissel JT;Koopman WJ;Lipscomb B;Maestri M;Marino M;Massey JM;McVey A;Mezei MM;Muppidi S;Nicolle MW;Oger J;Pascuzzi RM;Pasnoor M;Pestronk A;Provenzano C;Ricciardi R;Richman DP;Rowin J;Sanders DB;Siddiqi Z;Soloway A;Wolfe GI;Wulf C;Drachman DB;Traynor BJ
通讯作者：
Traynor BJ

Telemedicine visits in myasthenia gravis: Expert guidance and the Myasthenia Gravis Core Exam (MG-CE).