Results 71 to 80 of about 1,989 (180)

Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models [PDF]

, 2021
Spinal muscular atrophy (SMA) is a severe childhood neuromuscular disease for which two genetic therapies, Nusinersen (Spinraza, an antisense oligonucleotide), and AVXS-101 (Zolgensma, an adeno-associated viral vector of serotype 9 AAV9), have recently ...
Hirst, TC, Chilcott, EM, Yáñez-Muñoz, RJ, Muiruri, EW   +3 more
core  

Adaptive Machine Learning Framework for Optimizing the Affinity Purification of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, Volume 123, Issue 5, Page 1107-1122, May 2026.
ABSTRACT Adeno‐associated viral (AAV) vectors for gene therapy are becoming integral to modern medicine, providing therapeutic options for diseases once deemed incurable. Currently, viral vector purification is a critical bottleneck in the gene therapy industry, impacting product efficacy and safety as well as accessibility and cost to patients ...
Kelvin P. Idanwekhai, Shriarjun Shastry, Morgan R. Hurst, Arianna Minzoni, Eduardo Barbieri, Luke Remmler, Eugene N. Muratov, Michael A. Daniele, Stefano Menegatti, Alexander Tropsha   +9 more
wiley   +1 more source

New Therapeutics Options for Pediatric Neuromuscular Disorders

Frontiers in Pediatrics, 2020
Neuromuscular disorders (NMDs) of Childhood onset are a genetically heterogeneous group of diseases affecting the anterior horn cell, the peripheral nerve, the neuromuscular junction, or the muscle.
Marina Flotats-Bastardas, Andreas Hahn
doaj   +1 more source

European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy [PDF]

, 2020
Spinal muscular atrophy (SMA) used to be one of the most common genetic causes of infant mortality. New disease modifying treatments have changed the disease trajectories and most impressive results are seen if treatment is initiated in the ...
Kostera-Pruszczyk, A, Ziegler, Andreas, Goemans, Nathalie, Muntoni, Francesco, Mercuri, E, Butoianu, N, Servais, L, Goemans, N, van der Pol, WL, Quijano-Roy, Susana, Kostera-Pruszczyk, Anna, Servais, Laurent, Kirschner, J, Haberlova, J, Quijano-Roy, S, Tizzano, Eduardo F., Muntoni, F, Ziegler, A, Mercuri, Eugenio, van der Pol, W. Ludo, Butoianu, Nina, Sejersen, Thomas, Sejersen, T, Tizzano, EF, Kirschner, Janbernd, Haberlova, Jana   +25 more
core   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

CASE REPORT: Liver Failure in a 4-month-old male with SMA type 2 after gene therapy/Onasemnogene abeparvovec (Zolgensma)

, 2023
Introduction: Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration of the anterior horn cells in the spinal cord and the brain stem nuclei. The onset of weakness ranges from before birth to
Hager, Juliana, Paul, Dustin J.
core  

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Potent Liver‐Tropic mRNA Lipid Nanoparticles: ApoE‐Mediated Delivery Through a Low‐Density Lipoprotein Receptor Independent Uptake Mechanism

Advanced Materials, Volume 38, Issue 22, 17 April 2026.
Helper and ionizable lipids play a crucial role in determining ApoE binding and subsequent liver tropism and LDLR‐mediated uptake. Ionizable lipids primarily govern the LDLR‐independent uptake pathway. This complementary interplay between lipid components ultimately governs LNP delivery performance and therapeutic efficacy in the liver.
Ashish Sarode, Christian Ortiz, Tadeh Derstepanian, Natalia Vargas‐Montoya, Priyal Patel, Nikita Khadse, Saikat Manna, Ryan Landis, Joseph Skaleski, Lianne Boeglin, Hongfeng Deng, Anusha Dias, Hong Wang, Debora Barreiros Petropolis, Barak Yahalom, Shrirang Karve, Frank DeRosa   +16 more
wiley   +1 more source

Affordability of in vivo gene therapy. Problems and potential solutions

Фармакоэкономика, 2020
Aim. To review foreign approaches to the evaluation and financing of in vivo gene therapy drugs.Materials and Methods. The first stage of the review included the systematic search for publications of clinical-economic studies (CES) on in vivo gene ...
V. V. Omelyanovskiy, N. Z. Musina, V. A. Lemeshko, A. A. Antonov, F. V. Gorkavenko   +4 more
doaj   +1 more source

When Rare Is Not Small: Amyotrophic Lateral Sclerosis Initiatives and Therapy

Exploration, Volume 6, Issue 2, April 2026.
In the precision‐medicine era, rare diseases must not be sidelined in translational infrastructure. The Mr. Cai Lei—led “Ice‐Breaking Team” turns an amyotrophic lateral sclerosis patient community into a sustainable ecosystem, realigning philanthropy, data, and research and development to reshape rare‐disease pipelines and guide precision therapies ...
Yang Liu, Xue Xia, Yingfang Chen, Haoying Yang, Xiaochen Chen, Lei Cai, Bingyang Shi   +6 more
wiley   +1 more source