未经评估:在本文中,作者讨论了他们如何利用斯里兰卡杜氏肌营养不良症(DMD)的基因突变数据,脊髓性肌萎缩症(SMA),脊髓小脑性共济失调(SCA)和亨廷顿病(HD)患者,并比较南亚国家的现有文献,以确定DMD可用基因治疗的潜在候选者,SMA,SCA和HD患者。
未经证实:罕见疾病患者(n=623),其特征性临床表现疑似HD,SCA,使用多重连接依赖性探针扩增(MLPA)对SMA和肌营养不良进行遗传证实,和单重PCR。在“Wiley全球基因治疗试验数据库”中进行了一项调查,以确定DMD,SMA,SCA,以及截至2021年4月在全球范围内进行的HD基因治疗临床试验。为了确定其他邻国的基因治疗候选者,我们将我们的发现与印度和巴基斯坦的可用文献进行了比较,这些文献使用了相同的分子诊断方案来进行我们的研究。
UNASSIGNED:从623例疑似HD的罕见疾病患者的总体队列中,SCA,SMA和肌营养不良,n=343(55%)[肌营养不良-65%;(DMD-139,Becker肌营养不良-BMD-11),SCA类型1-3-53%(SCA1-61,SCA2-23,SCA3-39),HD-52%(45)和SMA-34%(22)]患者通过MLPA和单重PCR的分子诊断为阳性。斯里兰卡共有147名患者接受了可用的基因治疗;[DMD-83,SMA-15和HD-49]被鉴定。斯里兰卡的发现与来自印度和巴基斯坦的现有文献的比较确定了来自这三个南亚国家的总共1257名患者[DMD-1076、SMA-57和HD-124]适合于现有的基因治疗试验。DMD,SMA,截至2021年4月,全球进行的HD基因治疗临床试验(113项研究)主要(99%)集中在高收入国家(HIC)和中高收入国家(UMIC)。然而,关于反义寡核苷酸(ASO)用于治疗SCA的潜在用途的研究尚未达到临床试验。
未经评估:大多数针对神经退行性疾病和神经肌肉疾病的基因疗法主要在西方人群中进行了疗效评估。没有针对DMD的多中心基因治疗临床试验中心,南亚地区的SMA和HD,导致对其他人群中此类个性化治疗的安全性和有效性缺乏了解,包括南亚人.通过促进研究人员之间的合作,临床医生,患者倡导团体,发展中国家遗传疾病社区的基因治疗计划中的政府和行业将把全球北方和全球南方联系起来,并为“我们可以共同发挥作用”的座右铭注入生命。
UNASSIGNED: In this article, the authors discuss how they utilized the genetic mutation data in Sri Lankan Duchenne muscular dystrophy (DMD), Spinal muscular atrophy (SMA), Spinocerebellar ataxia (SCA) and Huntington\'s disease (HD) patients and compare the available literature from South Asian countries to identifying potential candidates for available gene therapy for DMD, SMA, SCA and HD patients.
UNASSIGNED: Rare disease patients (n = 623) with the characteristic clinical findings suspected of HD, SCA, SMA and Muscular Dystrophy were genetically confirmed using Multiplex Ligation Dependent Probe Amplification (MLPA), and single plex PCR. A survey was conducted in the \"Wiley database on Gene Therapy Trials Worldwide\" to identify DMD, SMA, SCA, and HD gene therapy clinical trials performed worldwide up to April 2021. In order to identify candidates for gene therapy in other neighboring countries we compared our findings with available literature from India and Pakistan which has utilized the same molecular diagnostic protocol to our study.
UNASSIGNED: From the overall cohort of 623 rare disease patients with the characteristic clinical findings suspected of HD, SCA, SMA and Muscular Dystrophy, n = 343 (55%) [Muscular Dystrophy- 65%; (DMD-139, Becker Muscular Dystrophy -BMD-11), SCA type 1-3-53% (SCA1-61,SCA2- 23, SCA3- 39), HD- 52% (45) and SMA- 34% (22)] patients were positive for molecular diagnostics by MLPA and single plex PCR. A total of 147 patients in Sri Lanka amenable to available gene therapy; [DMD-83, SMA-15 and HD-49] were identified. A comparison of Sri Lankan finding with available literature from India and Pakistan identified a total of 1257 patients [DMD-1076, SMA- 57, and HD-124] from these three South Asian Countries as amenable for existing gene therapy trials. DMD, SMA, and HD gene therapy clinical trials (113 studies) performed worldwide up to April 2021 were concentrated mostly (99%) in High Income Countries (HIC) and Upper Middle-Income Countries (UMIC). However, studies on the potential use of anti-sense oligonucleotides (ASO) for treatment of SCAs have yet to reach clinical trials.
UNASSIGNED: Most genetic therapies for neurodegenerative and neuromuscular disorders have been evaluated for efficacy primarily in Western populations. No multicenter gene therapy clinical trial sites for DMD, SMA and HD in the South Asian region, leading to lack of knowledge on the safety and efficacy of such personalized therapies in other populations, including South Asians. By fostering collaboration between researchers, clinicians, patient advocacy groups, government and industry in gene therapy initiatives for the inherited-diseases community in the developing world would link the Global North and Global South and breathe life into the motto \"Together we can make a difference\".