Results 51 to 60 of about 2,204 (179)

Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)

Cureus, 2023
Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and wasting in the voluntary muscles of infants and children. SMA has been the leading inherited cause of infant death. More specifically, SMA is caused by the absence of the SMN1 gene. In May 2019, the Food and Drug Administration (FDA) approved onasemnogene abeparvovec, SMN1 gene
Ogbonmide, Tolu, Rathore, Rajni, Rangrej, Shahid B, Hutchinson, Stedrea, Lewis, Marcia, Ojilere, Stephenie, Carvalho, Victoria, Kelly, Irenaissia   +7 more
openaire   +2 more sources

Serotype‐Tailored Midstream and Downstream Operations to Advance the Manufacturing of Adeno‐Associated Viral Vectors

Biotechnology and Bioengineering, EarlyView.
ABSTRACT Adeno‐associated viruses (AAVs) are the leading vectors for in vivo gene therapy, fueling a growing demand for scalable and robust biomanufacturing processes. Yet, the impact of cell lysis conditions on the performance of midstream and downstream unit operations across serotypes remains poorly characterized.
Arianna Minzoni, Shriarjun Shastry, Eduardo Barbieri, Morgan R. Hurst, Kelvin Idanwekhai, Yuxuan Wu, Katherine Ernst, Wai‐Keen Chung, Christopher Bombeck, Saad A. Khan, Sushmita Koley, Gabriella Kiss, Oliver Rammo, Alexander Tropsha, Cristiana Boi, Michael A. Daniele, Steven Cramer, Barry Byrne, Stephen Kaminsky, Angie Snell Bennett, Stefano Menegatti   +20 more
wiley   +1 more source

Zdravljenje prvih bolnikov z gensko nadomestno terapijo v Sloveniji; otroka s spinalno mišično atrofijo, ki sta se zdravila z zdravilom onasemnogene abeparvovek

Zdravniški Vestnik
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika.
Eva Vrščaj, Tanja Golli, Tanja Loboda, Alenka Piskar, Matjaž Homan, Damjan Osredkar   +5 more
doaj   +1 more source

In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders

Biology, 2023
Spinal Muscular Atrophy (SMA) is the leading genetic cause of infant mortality. The most common form of SMA is caused by mutations in the SMN1 gene, located on 5q (SMA).
Julieth Andrea Sierra-Delgado, Shrestha Sinha-Ray, Abuzar Kaleem, Meysam Ganjibakhsh, Mohini Parvate, Samantha Powers, Xiaojin Zhang, Shibi Likhite, Kathrin Meyer   +8 more
doaj   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Drug Screening and Drug Repositioning as Promising Therapeutic Approaches for Spinal Muscular Atrophy Treatment

Frontiers in Pharmacology, 2020
Spinal muscular atrophy (SMA) is the most common genetic disease affecting infants and young adults. Due to mutation/deletion of the survival motor neuron (SMN) gene, SMA is characterized by the SMN protein lack, resulting in motor neuron impairment ...
Giovanna Menduti, Daniela Maria Rasà, Serena Stanga, Marina Boido   +3 more
doaj   +1 more source

Selective modulation of NaV channel gating counteracts aberrant hyperexcitability and rescues motor function and survival in a model of spinal muscular atrophy

British Journal of Pharmacology, EarlyView.
Background and Purpose Spinal muscular atrophy (SMA) is a motor neuron disease caused by SMN1 gene loss, leading to reduced survival motor neuron (SMN) protein and progressive motor neuron degeneration. Although SMN‐restoring therapies improve outcomes, residual disease burden and non‐curative efficacy underscore the need for complementary treatments ...
Fernanda C. Cardoso, Jessica A. I. Muller, Yougang Zhang, Jean Giacomotto   +3 more
wiley   +1 more source

La terapia génica de la atrofia muscular espinal. Una revisión sistemática [PDF]

, 2022
La atrofia muscular espinal es una enfermedad hereditaria crónica y degenerativa con una alta incidencia en la población, con una morbimortalidad elevada en pacientes pediátricos y elevados costes de recursos sanitarios en pacientes que llegan a la ...
León Martínez, Juan Ignacio
core  

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Therapy development for spinal muscular atrophy: perspectives for muscular dystrophies and neurodegenerative disorders

Neurological Research and Practice, 2022
Background Major efforts have been made in the last decade to develop and improve therapies for proximal spinal muscular atrophy (SMA). The introduction of Nusinersen/Spinraza™ as an antisense oligonucleotide therapy, Onasemnogene abeparvovec/Zolgensma ...
Sibylle Jablonka, Luisa Hennlein, Michael Sendtner   +2 more
doaj   +1 more source