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1. Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease.
作者: Kiran Musunuru.;Sarah A Grandinette.;Xiao Wang.;Taylor R Hudson.;Kevin Briseno.;Anne Marie Berry.;Julia L Hacker.;Alvin Hsu.;Rachel A Silverstein.;Logan T Hille.;Aysel N Ogul.;Nancy A Robinson-Garvin.;Juliana C Small.;Sarah McCague.;Samantha M Burke.;Christina M Wright.;Sarah Bick.;Venkata Indurthi.;Shweta Sharma.;Michael Jepperson.;Christopher A Vakulskas.;Michael Collingwood.;Katie Keogh.;Ashley Jacobi.;Morgan Sturgeon.;Christian Brommel.;Ellen Schmaljohn.;Gavin Kurgan.;Thomas Osborne.;He Zhang.;Kyle Kinney.;Garrett Rettig.;Christopher J Barbosa.;Sean C Semple.;Ying K Tam.;Cathleen Lutz.;Lindsey A George.;Benjamin P Kleinstiver.;David R Liu.;Kim Ng.;Sadik H Kassim.;Petros Giannikopoulos.;Mohamad-Gabriel Alameh.;Fyodor D Urnov.;Rebecca C Ahrens-Nicklas.
来源: N Engl J Med. 2025年
Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality in early infancy, we immediately began to develop a customized lipid nanoparticle-delivered base-editing therapy. After regulatory approval had been obtained for the therapy, the patient received two infusions at approximately 7 and 8 months of age. In the 7 weeks after the initial infusion, the patient was able to receive an increased amount of dietary protein and a reduced dose of a nitrogen-scavenger medication to half the starting dose, without unacceptable adverse events and despite viral illnesses. No serious adverse events occurred. Longer follow-up is warranted to assess safety and efficacy. (Funded by the National Institutes of Health and others.).
7. Longitudinal Changes in Airway Mucus Plugs and FEV1 in COPD.
作者: Sofia K Mettler.;Pietro Nardelli.;Monica Iturrioz Campo.;Rubén San José Estépar.;Padma P Manapragada.;Mostafa Abozeed.;Muhammad Usman Aziz.;Mohd Zahid.;Scott Grumley.;Hrudaya P Nath.;Andrew Yen.;Sushilkumar Sonavane.;Christian F Clarenbach.;Wei Wang.;Carrie L Pistenmaa.;George R Washko.;Raúl San José Estépar.;Michael H Cho.;Alejandro A Diaz.; .; .
来源: N Engl J Med. 2025年392卷19期1973-1975页 16. Second-Line Antiretroviral Therapy for Children Living with HIV in Africa.
作者: Victor Musiime.;Mutsa Bwakura-Dangarembizi.;Alexander J Szubert.;Vivian Mumbiro.;Hilda A Mujuru.;Cissy M Kityo.;Abbas Lugemwa.;Katja Doerholt.;Chishala Chabala.;Shafic Makumbi.;Veronica Mulenga.;Helen McIlleron.;David Burger.;Eva Natukunda.;Clare Shakeshaft.;Kyomuhendo Jovia Linda.;Kusum Nathoo.;Lara Monkiewicz.;Ibrahim Yawe.;Monica Kapasa.;Mary Nyathi.;Joyce Lungu.;Bwendo Nduna.;Wedu Ndebele.;Annabelle South.;Mwate Mwamabazi.;Godfrey Musoro.;Anna Griffiths.;Khozya Zyambo.;Rashidah Nazzinda.;Kevin Zimba.;Yingying Zhang.;Simon Walker.;Anna Turkova.;A Sarah Walker.;Alasdair Bamford.;Diana M Gibb.; .
来源: N Engl J Med. 2025年392卷19期1917-1932页
Children living with human immunodeficiency virus (HIV) have limited options for second-line antiretroviral therapy (ART).
17. Oveporexton, an Oral Orexin Receptor 2-Selective Agonist, in Narcolepsy Type 1.
作者: Yves Dauvilliers.;Giuseppe Plazzi.;Emmanuel Mignot.;Gert Jan Lammers.;Rafael Del Río Villegas.;Ramin Khatami.;Mitsutaka Taniguchi.;Anson Abraham.;Yaming Hang.;Harisha Kadali.;Marta Lamberton.;Sarah Sheikh.;Ellie Stukalin.;Rachel Neuwirth.;Todd J Swick.;Shinichiro Tanaka.;Christian von Hehn.;Philipp von Rosenstiel.;Hao Wang.;Alice Cai.;Melissa Naylor.;Tina Olsson.
来源: N Engl J Med. 2025年392卷19期1905-1916页
Narcolepsy type 1 is a disorder of hypersomnolence caused by a loss of orexin neurons, which results in low orexin levels in the brain.
18. Loss of Subsidized Drug Coverage and Mortality among Medicare Beneficiaries.
作者: Eric T Roberts.;Jessica Phelan.;Aaron L Schwartz.;Ellen Meara.;Dominic Ruggiero.;Lilly Estenson.;Rachel M Werner.;José F Figueroa.
来源: N Engl J Med. 2025年
A total of 14 million Medicare beneficiaries receive the Low-Income Subsidy (LIS), which reduces cost sharing in Medicare Part D. Losing the LIS may impede medication access and affect mortality.
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