Article
Gastroenterology & Hepatology
Deepa Chand, Franziska Mohr, Hugh McMillan, Francis Fonyuy Tukov, Kyle Montgomery, Aaron Kleyn, Rui Sun, Sitra Tauscher-Wisniewski, Petra Kaufmann, Gerd Kullak-Ublick
Summary: This study focuses on the risk of liver injury associated with OA in the treatment of SMA and provides guidance on its management. Analysis of data from 325 patients receiving OA treatment showed elevated liver function test results in some patients. Most patients mitigated these adverse effects through prophylactic prednisolone treatment.
JOURNAL OF HEPATOLOGY
(2021)
Article
Medicine, General & Internal
Andrada Mirea, Elena-Silvia Shelby, Mihaela Axente, Mihaela Badina, Liliana Padure, Madalina Leanca, Vlad Dima, Corina Sporea
Summary: The study results suggest that early treatment plays a more significant role in the motor function development of SMA patients, while combination therapy is not more effective than monotherapy.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Clinical Neurology
Hannah A. Blair
Summary: Onasemnogene abeparvovec is a gene therapy that improves event-free survival and motor function in patients with spinal muscular atrophy (SMA), and helps pre-symptomatic children achieve motor milestones. It represents an important treatment option, especially when initiated early in the course of the disease.
Article
Clinical Neurology
Tomoko Mizuno, Tadashi Kanouchi, Yumie Tamura, Ko Hirata, Runa Emoto, Tomonori Suzuki, Kenichi Kashimada, Tomohiro Morio
Summary: This study reports the posttreatment changes in needle electromyography (EMG) findings in two patients with spinal muscular atrophy (SMA) type I. The findings suggest that peripheral nerve reinnervation occurs after treatment, although active denervation is still present. These findings are important for evaluating the effectiveness of SMA treatment.
Article
Clinical Neurology
Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello, Riccardo Masson, Odile Boespflug-Tanguy, Claudio Bruno, Stefania Corti, Aurore Daron, Nicolas Deconinck, Laurent Servais, Volker Straub, Haojun Ouyang, Deepa Chand, Sitra Tauscher-Wisniewski, Nuno Mendonca, Arseniy Lavrov
Summary: The STR1VE-EU study evaluated the safety and efficacy of onasemnogene abeparvovec gene replacement therapy in infants with spinal muscular atrophy type 1, showing effectiveness in symptomatic patients and a favorable benefit-risk profile for this patient population. Further long-term safety studies are needed.
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: Onasemnogene abeparvovec was effective and well tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: SPR1NT (NCT03505099) is a Phase III study investigating the efficacy and safety of onasemnogene abeparvovec in presymptomatic children with biallelic SMN1 mutations. The results showed that all 14 infants enrolled in the study were able to sit independently for at least 30 seconds within 18 months and none required permanent ventilation. The treatment was well tolerated and effective for children expected to develop SMA type 1.
Article
Clinical Neurology
Carmen Leon-Astudillo, Mary Wagner, Stephanie M. Salabarria, Jenna Lammers, Julie Berthy, Carla D. Zingariello, Barry J. Byrne, Barbara K. Smith
Summary: This study aims to describe the sleep characteristics in a cohort of children treated with Ona-semnogene-abeparvovec. The results showed that sleep-disordered breathing is common in treated children, with a higher apnea hypopnea index (AHI) during REM compared to NREM. There was no correlation between age at treatment, neuromotor scores, and AHI. However, indications and timing of polysomnography in this cohort remain unknown.
Article
Medicine, General & Internal
Matthias Bischof, Maria Lorenzi, Jennifer Lee, Eric Druyts, Chakrapani Balijepalli, Omar Dabbous
Summary: The study compared the efficacy of onasemnogene abeparvovec and nusinersen in treating symptomatic patients with SMA type 1 using matching-adjusted indirect comparison. Results showed favorable effects of onasemnogene abeparvovec in terms of event-free survival, overall survival, and motor milestone achievements, indicating potential prolonged benefits compared to nusinersen through 24 months of follow-up.
CURRENT MEDICAL RESEARCH AND OPINION
(2021)
Article
Biochemistry & Molecular Biology
Gretchen Thomsen, Arthur H. M. Burghes, Caroline Hsieh, Janet Do, Binh T. T. Chu, Stephanie Perry, Basam Barkho, Petra Kaufmann, Douglas M. Sproule, Douglas E. Feltner, Wendy K. Chung, Vicki L. McGovern, Robert F. Hevner, Miriam Conces, Christopher R. Pierson, Mariacristina Scoto, Francesco Muntoni, Jerry R. Mendell, Kevin D. Foust
Summary: Biodistribution analysis of two patients with spinal muscular atrophy shows widespread onasemnogene abeparvovec DNA, mRNA and SMN protein throughout the central nervous system and peripheral organs following intravenous gene therapy administration. Both patients experienced varying outcomes after receiving the treatment, including improved motor function in one patient and death in the other shortly after administration. The study demonstrates effective distribution, transduction, and expression of onasemnogene abeparvovec throughout the CNS, supporting its potential for restoring SMN expression in individuals with SMA1.
Article
Pediatrics
Jonathan Gaillard, Andrew Ran Gu, Erin E. Neil Knierbein
Summary: Onasemnogene abeparvovec treats spinal muscular atrophy by delivering a functional SMN1 gene. We report two term infants with spinal muscular atrophy who developed necrotizing enterocolitis after receiving onasemnogene abeparvovec infusion. Potential causes and monitoring for necrotizing enterocolitis after onasemnogene abeparvovec therapy are discussed.
JOURNAL OF PEDIATRICS
(2023)
Article
Clinical Neurology
Crystal J. J. Yeo, Zachary Simmons, Darryl C. De Vivo, Basil T. Darras
Summary: Three innovative therapies for treating spinal muscular atrophy (SMA) since 2016 have shown remarkable improvements in infants and children, but the benefits for adults are limited and the treatments are not curative. Concerns have been raised regarding the high costs of these medications, the burden on taxpayers, and the societal costs of withholding treatments. Physicians should carefully consider the costs, benefits, quality of life implications, and ethical principles when making decisions for their patients.
ANNALS OF NEUROLOGY
(2022)
Review
Pediatrics
Panagiota Panagiotou, Christina Kanaka-Gantenbein, Athanasios G. Kaditis
Summary: Gene-based treatments do not have a significant positive impact on the ventilatory support requirements for SMA patients who are already on ventilatory support.
Article
Pediatrics
Deepa H. Chand, Craig Zaidman, Kapil Arya, Rachel Millner, Michelle A. Farrar, Fiona E. Mackie, Natalie L. Goedeker, Vikas R. Dharnidharka, Raja Dandamudi, Sandra P. Reyna
Summary: Spinal muscular atrophy is treated with onasemnogene abeparvovec, but it can lead to drug-induced thrombotic microangiopathy in some infants. Early recognition and treatment of this complication may reduce mortality and morbidity.
JOURNAL OF PEDIATRICS
(2021)
Article
Clinical Neurology
Marika Pane, Giorgia Coratti, Maria Carmela Pera, Valeria A. Sansone, Sonia Messina, Adele d'Amico, Claudio Bruno, Francesca Salmin, Emilio Albamonte, Roberto De Sanctis, Maria Sframeli, Vincenzo Di Bella, Simone Morando, Concetta Palermo, Anna Lia Frongia, Laura Antonaci, Anna Capasso, Michela Catteruccia, Antonella Longo, Martina Ricci, Costanza Cutrona, Alice Pirola, Chiara Bravetti, Marina Pedemonte, Noemi Brolatti, Enrico Bertini, Eugenio Mercuri
Summary: This study reports the real-world data of type 2 and 3 SMA patients treated with nusinersen for at least 2 years. The results show an increase in motor function after 12 months and during the second year of treatment. The magnitude of change varied across different age and functional subgroups, with the greatest improvement observed in young patients with higher baseline function. When compared to untreated patients, the study cohort demonstrated significant differences in both Hammersmith Functional Motor Scale and Revised Upper Limb Module scores at 12 and 24 months.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Economics
Devin Incerti, Jeffrey R. Curtis, Jason Shafrin, Darius N. Lakdawalla, Jeroen P. Jansen
Article
Mathematical & Computational Biology
Joy Leahy, Howard Thom, Jeroen P. Jansen, Emma Gray, Aisling O'Leary, Arthur White, Cathal Walsh
STATISTICS IN MEDICINE
(2019)
Article
Economics
Devin Incerti, Howard Thom, Gianluca Baio, Jeroen P. Jansen
Article
Health Care Sciences & Services
Jeroen P. Jansen, Devin Incerti, Jeffrey R. Curtis
JOURNAL OF MANAGED CARE & SPECIALTY PHARMACY
(2019)
Article
Clinical Neurology
Kenneth Berger, Steve Kanters, Jeroen P. Jansen, Andrew Stewart, Susan Sparks, Kristina An Haack, Anna Bolzani, Gaye Siliman, Alaa Hamed
JOURNAL OF NEUROLOGY
(2019)
Article
Economics
Louis P. Garrison, Jeroen P. Jansen, Nancy J. Devlin, Susan Griffin
Review
Health Care Sciences & Services
Shannon Cope, Sam T. Keeping, Rachel Goldgrub, Dieter Ayers, Jeroen P. Jansen, John R. Penrod, Beata Korytowsky, Ariadna Juarez-Garcia, Yong Yuan
JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH
(2019)
Letter
Medicine, Research & Experimental
Omar Dabbous, Benit Maru, Jeroen P. Jansen, Maria Lorenzi, Martin Cloutier, Annie Guerin, Irina Pivneva, Eric Q. Wu, Ramesh Arjunji, Douglas Feltner, Douglas M. Sproule
ADVANCES IN THERAPY
(2019)
Article
Health Care Sciences & Services
Shannon Cope, Dieter Ayers, Jie Zhang, Katharine Batt, Jeroen P. Jansen
BMC MEDICAL RESEARCH METHODOLOGY
(2019)
Article
Economics
Jeroen P. Jansen, Devin Incerti, Mark T. Linthicum
Article
Surgery
Jesse Sussell, Alison R. Silverstein, Prodyumna Goutam, Devin Incerti, Rebecca Kee, Corinna X. Chen, Donald S. Batty, Jeroen P. Jansen, Bertram L. Kasiske
AMERICAN JOURNAL OF TRANSPLANTATION
(2020)
Article
Mathematical & Computational Biology
Shannon Cope, Keith Chan, Jeroen P. Jansen
RESEARCH SYNTHESIS METHODS
(2020)
Article
Economics
Shannon Cope, Kabirraaj Toor, Evan Popoff, Rafael Fonseca, Ola Landgren, Maria-Victoria Mateos, Katja Weisel, Jeroen Paul Jansen
Review
Health Care Sciences & Services
Jeroen P. Jansen, Javaria Mona Khalid, Michael D. Smyth, Haridarshan Patel
CLINICOECONOMICS AND OUTCOMES RESEARCH
(2018)