Allan-Herndon-Dudley综合征患者外周性甲状腺毒症的首次治疗-动脉网

First treatment for peripheral thyrotoxicosis in patients with Allan-Herndon-Dudley syndrome

EMA 等信源发布 2024-12-13 19:51

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EMA has recommended granting a marketing authorisation in the European Union (EU) for Emcitate (tiratricol), an oral treatment for peripheral thyrotoxicosis (inappropriately high levels of circulating thyroid hormones) in patients with monocarboxylate transporter 8 (MCT8) deficiency.MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome (AHDS), is an ultra-rare, chronic and severely debilitating disease caused by mutations in the gene coding for the thyroid hormone transporter MCT8 protein.

EMA建议在欧盟（EU）批准Emcitate（tiratricol）的上市许可，Emcitate是一种口服治疗单羧酸转运蛋白8（MCT8）缺乏症患者外周甲状腺毒症（不适当的高水平循环甲状腺激素）的药物。MCT8缺乏症，也称为Allan-Herndon-Dudley综合征（AHDS），是一种极为罕见的慢性严重衰弱性疾病，由编码甲状腺激素转运蛋白MCT8蛋白的基因突变引起。

This prevents the thyroid hormones from entering cells in the brain and delays brain development in individuals with AHDS. This lack of thyroid hormone in the brain leads to severe intellectual and motor disability. Patients only rarely achieve independent sitting, and most will not be able to maintain head control.At the same time, there is a build-up of thyroid hormones in other parts of the body, which can cause peripheral thyrotoxicosis manifesting itself in symptoms of low body weight, tachycardia, and muscle wasting.

这可以防止甲状腺激素进入大脑细胞，延缓AHDS患者的大脑发育。大脑中甲状腺激素的缺乏会导致严重的智力和运动障碍。患者很少实现独立坐姿，大多数患者无法保持头部控制。同时，甲状腺激素在身体其他部位积聚，可导致周围性甲状腺毒症，表现为体重减轻，心动过速和肌肉萎缩的症状。

This may result in serious complications like heart failure and death.Given that the mutation is in the X-chromosome, the condition occurs almost exclusively in males.There is an unmet medical need for treatments of AHDS as there are no medicines currently authorised in the EU to treat this disease.The active substance of Emcitate is tiratricol, an analogue of the thyroid hormone T3, the most important active thyroid hormone.

这可能会导致严重的并发症，如心力衰竭和死亡。鉴于突变发生在X染色体上，这种情况几乎只发生在男性身上。治疗AHD的医疗需求尚未得到满足，因为欧盟目前没有授权治疗这种疾病的药物。Emcitate的活性物质是替拉曲克，它是甲状腺激素T3（最重要的活性甲状腺激素）的类似物。

Tiratricol binds with high affinity to thyroid receptors and does not require MCT8 to enter cells. It exerts similar biologic effects to T3 and can restore normal thyroid hormone activity in MCT8-dependent tissues.EMA’s recommendation for Emcitate as a treatment for peripheral thyrotoxicosis is based on the results of a pivotal single-ar.

替拉曲克以高亲和力与甲状腺受体结合，不需要MCT8进入细胞。它具有与T3相似的生物学作用，可以恢复MCT8依赖性组织中正常的甲状腺激素活性。EMA推荐Emcitate作为外周甲状腺毒症的治疗方法是基于关键的单ar的结果。