Drugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies [0.03%]
孤儿药认定的药物和生物制品分析及其再定位策略探讨
Kathleen L Miller,Selma Kraft,Abraham Ipe et al.
Kathleen L Miller et al.
Background: The Orphan Drug Act was created to stimulate the development of drugs and biologics for rare diseases. Investigating products that have received orphan drug designation provide a greater understanding of rare ...
Clinical trials evaluating potential therapies for light chain (AL) amyloidosis [0.03%]
评估轻链（AL）淀粉样变病潜在疗法的临床试验
Eli Muchtar,Morie A Gertz
Eli Muchtar
Introduction: The field of systemic amyloidosis is experiencing major advances in diagnostic and prognostic methods coupled with a growing availability in treatment options. ...
Is subretinal AAV gene replacement still the only viable treatment option for choroideremia? [0.03%]
视网膜下AAV基因治疗真的是进行中的choroideremia唯一可行的治疗方法吗？
Ruofan Connie Han,Lewis E Fry,Ariel Kantor et al.
Ruofan Connie Han et al.
Introduction: Choroideremia is an X-linked inherited retinal degeneration resulting from mutations in the CHM gene, encoding Rab escort protein-1 (REP1), a protein regulating intracellular vesicular transport. Loss-of-fun...
Jonathan B Rosenberg,Alvin Chen,Stephen M Kaminsky et al.
Jonathan B Rosenberg et al.
Neuronal ceroid lipofuscinoses (NCL) represent a class of neurodegenerative disorders involving defective lysosomal processing enzymes or receptors, leading to lysosomal storage disorders, typically characterized by observation of cognitive...
The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism [0.03%]
遗传性酪氨酸血症Ⅰ型基因靶向治疗的前景及其在先天性代谢缺陷疾病中的引领作用
Whitney S Thompson,Gourish Mondal,Caitlin J Vanlith et al.
Whitney S Thompson et al.
Introduction: Inborn errors of metabolism (IEMs) often result from single-gene mutations and collectively cause liver dysfunction in neonates leading to chronic liver and systemic disease. Current treatments for many IEMs...
Advances in potential treatment options for myeloproliferative neoplasm associated myelofibrosis [0.03%]
与骨髓增生异常相关的骨纤维化的潜在治疗方案进展
Prithviraj Bose
Prithviraj Bose
Introduction: The Janus kinase (JAK)1/2 inhibitor ruxolitinib provides rapid, sustained and often dramatic benefits to patients with myelofibrosis, inducing spleen shrinkage and ameliorating symptoms, and improves surviva...
Developing therapies for rare tumors: opportunities, challenges and progress [0.03%]
针对罕见肿瘤的疗法开发：机遇、挑战与进展
Diana Bradford,Karlyne M Reilly,Brigitte C Widemann et al.
Diana Bradford et al.
Introduction: Rare tumors account for one fourth of adult tumors; in children, rare tumors represent approximately 15-20% of childhood malignancies, thus accounting for a significant burden of disease. The rarity of these...
Monitoring progression of retinitis pigmentosa: current recommendations and recent advances [0.03%]
视网膜色素变性进展监测：当前推荐和近期研究进展
Moreno Menghini,Jasmina Cehajic-Kapetanovic,Robert E MacLaren
Moreno Menghini
Introduction: Retinitis pigmentosa (RP) is the most common form of inherited retinal degenerations with an estimated prevalence of 1 in 4,000 and more than 1 million individuals affected worldwide. With the introduction o...
Hereditary multiple exostoses: are there new plausible treatment strategies? [0.03%]
遗传性多发外生骨瘤：有可能的新治疗方法吗？
Maurizio Pacifici
Maurizio Pacifici
Introduction: Hereditary multiple exostoses (HME) is a rare congenital pediatric disorder characterized by osteochondromas forming next to the growth plates in young patients. The osteochondromas cause multiple health pro...