Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.

IF 2.3 Q3 CLINICAL NEUROLOGY

Neurology. Clinical practice Pub Date : 2024-06-01 Epub Date: 2024-05-07 DOI:10.1212/CPJ.0000000000200277

Mohamed I Kediha, Meriem Tazir, Damien Sternberg, Bruno Eymard, Lamia Ali Pacha

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引用次数: 0

Abstract

Background and objectives: To provide real-word clinical follow-up data on patients carrying variations of congenital myasthenic syndromes (CMS) and who respond to some innovative drugs.

Methods: Patients recruited from the Neurology Department of the Mustapha Bacha university hospital in Algiers. Treated with innovative drugs, they were monitored and their clinical progress was evaluated on the basis of clinical arguments suggestive of CMSs, but also para clinical arguments (electromyography and genetic study).

Results: Six patients carrying different mutations in different genes of CMSs were studied. They had different pathophysiologic profiles (slow or fast channel syndromes, low expressor of receptor). Their therapeutic management was based on innovative drugs, normally indicated in other, non-neurological pathologies. Their outcome was toward a clear clinical improvement.

Discussion: This work relates the interest of proposing treatments (outside of Pyridostigmine) in the management of CMSs. These therapies can greatly modify the prognosis of patients suffering from this orphan disease.

Classification of evidence: This study provides Class IV evidence that for patients with congenital myasthenic syndromes, some innovative treatments are effective.

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先天性肌无力综合症的创新治疗方法。

背景和目的：提供有关先天性肌无力综合征（CMS）变异并对一些创新药物产生反应的患者的真实临床随访数据：提供携带先天性肌无力综合征（CMS）变异并对一些创新药物有反应的患者的真实临床随访数据：从阿尔及尔 Mustapha Bacha 大学医院神经科招募患者。使用创新药物治疗后，对他们进行监测，并根据提示 CMS 的临床论据以及辅助临床论据（肌电图和基因研究）评估他们的临床进展：研究了六名携带不同 CMS 基因突变的患者。他们具有不同的病理生理特征（慢通道或快通道综合征、受体低表达）。他们的治疗以创新药物为基础，这些药物通常适用于其他非神经系统疾病。其结果是临床症状明显改善：讨论：这项研究表明，在 CMSs 的治疗过程中，建议使用（吡啶斯的明以外的）治疗方法很有意义。这些疗法可以大大改变这种孤儿病患者的预后：本研究提供了IV级证据，证明对先天性肌无力综合征患者而言，一些创新疗法是有效的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurology. Clinical practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

0.00%

发文量

期刊介绍： Neurology® Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. The journal publishes original articles in all areas of neurogenetics including rare and common genetic variations, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease genes, and genetic variations with a putative link to diseases. Articles include studies reporting on genetic disease risk, pharmacogenomics, and results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology® Genetics, but studies using model systems for treatment trials, including well-powered studies reporting negative results, are welcome.