Sirbu Carmen Adella, Ivan Raluca, Authier Francois Jerome, Ionita-Radu Florentina, Jianu Dragos Catalin, Vasiliu Octavian, Constantin Ciprian, Tuță Sorin
Department of Neurology, 'Dr. Carol Davila' Central Military Emergency University Hospital, 010242 Bucharest, Romania.
Centre for Cognitive Research in Neuropsychiatric Pathology (Neuropsy-Cog), Department of Neurology, Faculty of Medicine, "Victor Babeș" University of Medicine and Pharmacy, 300041 Timisoara, Romania.
J Pers Med. 2023 Feb 26;13(3):420. doi: 10.3390/jpm13030420.
Orphan diseases, or rare diseases, are defined in Europe as diseases that affect less than 5 out of every 10,000 citizens. Given the small number of cases and the lack of profit potential, pharmaceutical companies have not invested much in the development of possible treatments. However, over the last few years, new therapies for rare diseases have emerged, giving physicians a chance to offer personalized treatment. With this paper, we aim to present some of the orphan neurological diseases for which new drugs have been developed lately.
We have conducted a literature review of the papers concerning rare diseases and their treatment, and we have analyzed the existing studies for each orphan drug. For this purpose, we have used the Google Scholar search engine and the Orphanet. We have selected the studies published in the last 15 years.
Since the formation of the National Organization for Rare Diseases, the Orphan Drug Act, and the National Institutes of Health Office of Rare Diseases, pharmacological companies have made a lot of progress concerning the development of new drugs. Therefore, diseases that until recently were without therapeutic solutions benefit today from personalized treatment. We have detailed in our study over 15 neurological and systemic diseases with neurological implications, for which the last 10-15 years have brought important innovations regarding their treatment.
Many steps have been taken towards the treatment of these patients, and the humanity and professionalism of the pharmaceutical companies, along with the constant support of the patient's associations for rare diseases, have led to the discovery of new treatments and useful future findings.
在欧洲，罕见病被定义为每10000名公民中患病人数少于5人的疾病。鉴于病例数量少且缺乏盈利潜力，制药公司在可能的治疗方法研发方面投入不多。然而，在过去几年中，出现了针对罕见病的新疗法，为医生提供了提供个性化治疗的机会。在本文中，我们旨在介绍一些最近已开发出新药的罕见神经疾病。
我们对有关罕见病及其治疗的论文进行了文献综述，并分析了每种孤儿药的现有研究。为此，我们使用了谷歌学术搜索引擎和Orphanet。我们选择了过去15年发表的研究。
自国家罕见病组织、《孤儿药法案》和美国国立卫生研究院罕见病办公室成立以来，制药公司在新药研发方面取得了很大进展。因此，那些直到最近还没有治疗方案的疾病如今受益于个性化治疗。我们在研究中详细介绍了15种具有神经学影响的神经和全身性疾病，在过去10至15年中，这些疾病的治疗取得了重要创新。
在这些患者的治疗方面已经采取了许多措施，制药公司的人道精神和专业精神，以及罕见病患者协会的持续支持，促成了新治疗方法的发现和未来有用的研究成果。
