Boutouyrie Pierre
Service de pharmacologie, INSERM U970, hôpital européen Georges-Pompidou, université de Paris, Assitance publique-Hôpitaux de Paris, 20, rue Leblanc, 75015 Paris, France.
Therapie. 2020 Apr;75(2):175-181. doi: 10.1016/j.therap.2020.02.009. Epub 2020 Feb 13.
Vascular Ehlers-Danlos syndrome (OMIM 130050, 1/150,000 birth) is caused by mutations in collagen 3A1 gene. It is associated with severe phenotype associating early arterial dissection and rupture, digestive and uterine perforations, and skin and joints fragility. Until recently, no treatment was available. Celiprolol, a beta1 antagonist with beta2 partial antagonist properties betablocker was tested in a randomized, controlled trial. We could show that this compound was associated with a 3-fold decrease in major events related to the disease. This effect was similar in molecular-proven patients. Administration of celiprolol in a cohort of patients followed routinely in France was accompanied to similar benefit. Celiprolol is unavailable in the USA. The ACER Therapeutics company applied for new drug application (NDA) to the Food and Drug Administration.
血管型埃勒斯-当洛综合征(OMIM 130050,发病率为1/150,000)由胶原蛋白3A1基因的突变引起。它与严重的表型相关,包括早期动脉夹层和破裂、消化和子宫穿孔以及皮肤和关节脆弱。直到最近,还没有有效的治疗方法。塞利洛尔是一种具有β2部分拮抗特性的β1拮抗剂,在一项随机对照试验中进行了测试。我们发现该化合物可使与该疾病相关的主要事件减少3倍。在分子诊断确诊的患者中也观察到了类似的效果。在法国对一组常规随访的患者使用塞利洛尔也带来了类似的益处。塞利洛尔在美国无法获得。ACER Therapeutics公司已向美国食品药品监督管理局申请新药申请(NDA)。