Results 141 to 150 of about 48,006 (264)

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 more
wiley   +1 more source

Real‐World Effectiveness and Safety of Pegzilarginase Treatment in Arginase 1 Deficiency

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Pegzilarginase is the first disease‐modifying drug for arginase 1 deficiency. In clinical trials, pegzilarginase effectively normalised plasma arginine (pArg), which was associated with clinically relevant improvements in neuromotor outcomes. We report from a French early access scheme the first report on experience from pegzilarginase therapy
Anaïs Brassier, Alina Arion, Jean‐Baptiste Arnoux, Magalie Barth, Dries Dobbelaere, Magali Gorce, Michael Grövdal, Cécile Laroche, Olivia Rime, Manuel Schiff, Mattias Rudebeck   +10 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, Volume 183, Issue 9, Page 1779-1813, May 2026.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Signals of Toxicity Associated With Gene Therapy: The Case of Etranacogene Dezaparvovec in the Treatment of Hemophilia B. [PDF]

J Pharm Technol
Castellana E, Chiappetta MR.
europepmc   +1 more source

Management of neonatal massive hemorrhage: A narrative review

Transfusion, EarlyView.
Cheryl S. L. Chooi, Mary Claire Simmonds, Laura Fisher, Tara Crawford, Michael J. Stark, Scott Morris, Marcus Brecht, Fiona Taverner   +7 more
wiley   +1 more source

Optimizing Oligonucleotide Therapeutics: A Model‐Informed Drug Development Perspective

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Oligonucleotide therapies have emerged as a powerful therapeutic class, providing novel solutions for diverse diseases through antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and aptamers that specifically target and modulate gene expression or protein function. However, oligonucleotide development faces distinct challenges,
Ye Yuan, Vishnu Sharma, Venkatesh Atul Bhattaram, Xiaolei Pan, Justin Earp, Yun Wang, Jiang Liu, Hao Zhu   +7 more
wiley   +1 more source

Efficacy and Safety of Prophylaxis With a Plasma‐Derived von Willebrand Factor/Factor VIII Concentrate (Wilate) in Patients With Type 3 von Willebrand Disease—A WIL‐31 Study Sub‐Analysis

European Journal of Haematology, Volume 116, Issue 5, Page 674-681, May 2026.
ABSTRACT Objectives The WIL‐31 study demonstrated efficacy and safety of prophylaxis with the plasma‐derived von Willebrand factor/factor VIII concentrate wilate in von Willebrand disease (VWD) of all types and was the only prospective study with an on‐demand run‐in study as an intra‐individual comparator.
Claudia Djambas Khayat, Leonid Dubey, Adlette Inati, Toshko Lissitchkov, Dzmitry Novik, Elina Peteva, Robert F. Sidonio Jr, Ali T. Taher, Kateryna V. Vilchevska, Vladimir Vdovin, Ana Boban   +10 more
wiley   +1 more source

The Trust‐Link Relational Transition Model: A Unitary Caring Framework for Youth With HIV Transitioning to Adult Healthcare

Journal of Advanced Nursing, Volume 82, Issue 5, Page 5479-5492, May 2026.
ABSTRACT Aims To develop a conceptual model integrating Robinson's Theory of Trust and Watson's Caritas Processes to guide trust‐building approaches and caring practices that support adolescents and young adults with HIV during the healthcare transition from paediatric to adult care.
Emily Anne Barr, Sara Horton‐Deutsch
wiley   +1 more source

Response to hemophilia B gene therapy based on adenoassociated virus serotype 5 antibody status. [PDF]

Res Pract Thromb Haemost
Miesbach W, Srivastava A.
europepmc   +1 more source