Results 61 to 70 of about 1,989 (180)

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

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

Developmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende, Adriana B. Ortega, Daniel A. Do Valle, Tiago S. Bara, Mara L. Cordeiro   +4 more
wiley   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

Εξελίξεις της γονιδιακής θεραπείας στη νωτιαία μυϊκή ατροφία [PDF]

, 2021
Η Νωτιαία Μυϊκή Ατροφία (Spinal Muscular Atrophy) είναι μία νευρομυϊκή διαταραχή που κληρονομείται με αυτοσωμικό υπολειπόμενο τρόπο. Χαρακτηρίζεται από τον εκφυλισμό των πρόσθιων κεράτων των άλφα κινητικών νευρώνων του νωτιαίου μυελού με αποτέλεσμα τη ...
Σαλαγιάννη Χρυσάνθη-Αγγελική, Salagianni Chrysanthi-Angeliki   +1 more
core  

Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy

, 2022
Adeno-associated virus (AAV) gene therapies are highly promising, such as the onasemnogene abeparvovec (Zolgensma) in spinal muscle atrophy (SMA).
Guillou, Julia, Péréon, Yann, Allain-Launay, Emma, Barnérias, Christine, Debord, Camille, Denis, Manon, Mercier, Sandra, de Pellegars, Alice, Frémeaux-Bacchi, Véronique, Roussey, Gwenaëlle, Porcheret, Florence, Desguerre, Isabelle   +11 more
core   +1 more source

Capture of adeno‐associated viruses from clarified lysate by continuous flow ultracentrifugation: a comparative study of iodixanol and sucrose gradients

Journal of Chemical Technology &Biotechnology, Volume 101, Issue 7, Page 1384-1395, July 2026.
Abstract BACKGROUND Adeno‐Associated Virus vectors are widely used in gene therapy due to their safety and efficacy. Despite the interest in their therapeutical application, AAV purification remains a significant challenge. Density gradient ultracentrifugation using cesium chloride, sucrose, or iodixanol gradients are common methods for AAV ...
Sabrina Leigheb, Maral Rahimzadeh, Nikolaus Virgolini, Aida Tleuova, Mahbod Mousavian, Astrid Dürauer, Patricia Pereira Aguilar   +6 more
wiley   +1 more source

Gene therapy for spinal muscular atrophy: the Qatari experience

, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy medicine, FDA-approved in May 2019 for the ...
Mahmoud Fawzi Elsaid (14152635), Karen El-Akouri (14152653), Sara Musa (14152662), Noora Shahbeck (14152671), Khaled Elshafey (14152647), Azhar Othman Al Rawwas (14152644), Amna Othman (14152659), Saad Alkaabi (14152677), Mariam Almulla (14152656), Khalid Ibrahim (3853360), Rehab Ali (14152668), Reem Alsulaiman (14152674), Mariam Al-Mureikhi (7317614), Hossamaldein Gaber Ali (14152632), Fatma Al-Mesaifri (14152665), Tawfeg Ben-Omran (6663634), Mahmoud I. A. Abeidah (14152641), Hajer Almulla (14152650), Reem Babiker Mohamed (14152638)   +18 more
core   +1 more source

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Therapeutics and Clinical Risk Management, 2019
Tamara Dangouloff,1 Laurent Servais1,2 1Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liège, Belgium ...
Dangouloff T, Servais L
doaj  

Development of an Agent‐Based Model to Investigate Durability of Factor IX Activity in Hemophilia B Patients Treated With Etranacogene Dezaparvovec

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 7, July 2026.
ABSTRACT Many currently approved gene therapies use adeno‐associated virus (AAV) to deliver DNA sequences encoding protein(s)‐of‐interest into cells. The AAV viral genome forms stable, circular DNA structures called episomes after entering the nuclei. Therapeutic proteins are then generated in vivo from transcription and translation of these episomes ...
Yuezhe Li, Partha Nandy, Eric Jordie, Timothy Knab, Karsten Peppel, Daniel C. Kirouac, A. Katharina Wilkins, Silpa Nuthalapati   +7 more
wiley   +1 more source

A Mechanistic Model of rAAV Production in Synthetic Cell Lines

Biotechnology and Bioengineering, Volume 123, Issue 6, Page 1684-1694, June 2026.
ABSTRACT The recombinant adeno‐associated virus (rAAV) is a widely used vector for gene therapy. Its manufacturing faces significant challenges in producing the large quantities of vectors needed for clinical applications and reducing empty particles.
Prahalad Srinivasan, Han‐Jung Kuo, Yu‐Chieh Lin, Yen‐An Lu, Wei‐Shou Hu, Qi Zhang   +5 more
wiley   +1 more source