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Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.
Mendell JR, Pozsgai ER, Lewis S, Griffin DA, Lowes LP, Alfano LN, Lehman KJ, Church K, Reash NF, Iammarino MA, Sabo B, Potter R, Neuhaus S, Li X, Stevenson H, Rodino-Klapac LR. Mendell JR, et al. Nat Med. 2024 Jan;30(1):199-206. doi: 10.1038/s41591-023-02730-9. Epub 2024 Jan 4. Nat Med. 2024. PMID: 38177855 Free PMC article. Clinical Trial.
The 2-year safety and efficacy of bidridistrogene xeboparvovec support clinical development advancement. Further studies are necessary to confirm the long-term safety and efficacy of this gene therapy. ClinicalTrials.gov registration: NCT03652259 ....
The 2-year safety and efficacy of bidridistrogene xeboparvovec support clinical development advancement. Further studies are necessary to co …
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio.
Waldrop MA, Chagat S, Storey M, Meyer A, Iammarino M, Reash N, Alfano L, Lowes L, Noritz G, Prochoroff A, Rossman I, Ginsberg M, Mosher K, Broomall E, Bass N, Gushue C, Kotha K, Paul G, Shell R, Tsao CY, Mendell JR, Connolly AM. Waldrop MA, et al. Among authors: mendell jr. Neuromuscul Disord. 2024 Jan;34:41-48. doi: 10.1016/j.nmd.2023.11.010. Epub 2023 Dec 2. Neuromuscul Disord. 2024. PMID: 38142474
Long-term safety and functional outcomes of delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy: A phase 1/2a nonrandomized trial.
Mendell JR, Sahenk Z, Lehman KJ, Lowes LP, Reash NF, Iammarino MA, Alfano LN, Lewis S, Church K, Shell R, Potter RA, Griffin DA, Hogan M, Wang S, Mason S, Darton E, Rodino-Klapac LR. Mendell JR, et al. Muscle Nerve. 2024 Jan;69(1):93-98. doi: 10.1002/mus.27955. Epub 2023 Aug 14. Muscle Nerve. 2024. PMID: 37577753 Clinical Trial.
INTRODUCTION/AIMS: Delandistrogene moxeparvovec is indicated in the United States for the treatment of ambulatory pediatric patients aged 4 through 5 years with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene. Long-term delandistrogene moxeparvo …
INTRODUCTION/AIMS: Delandistrogene moxeparvovec is indicated in the United States for the treatment of ambulatory pediatric patients aged 4 …
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Peña LDM, Burrage LC, Enns GM, Esplin ED, Harding C, Mendell JR, Niu ZN, Scharfe C, Yu T, Koeberl DD; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Peña LDM, et al. Among authors: mendell jr. Genet Med. 2023 Jun;25(6):100831. doi: 10.1016/j.gim.2023.100831. Epub 2023 Apr 9. Genet Med. 2023. PMID: 37031408 No abstract available.
Leveraging gene therapy to achieve long-term continuous or controllable expression of biotherapeutics.
Cripe TP, Hutzen B, Currier MA, Chen CY, Glaspell AM, Sullivan GC, Hurley JM, Deighen MR, Venkataramany AS, Mo X, Stanek JR, Miller AR, Wijeratne S, Magrini V, Mardis ER, Mendell JR, Chandler DS, Wang PY. Cripe TP, et al. Among authors: mendell jr. Sci Adv. 2022 Jul 15;8(28):eabm1890. doi: 10.1126/sciadv.abm1890. Epub 2022 Jul 13. Sci Adv. 2022. PMID: 35857488 Free PMC article.
In addition, we created an inducible version using an exon skipping strategy and achieved repeated, on-demand expression up to at least 36 weeks after AAV injection. Our system could be considered for short-term and/or repeated expression of other transgenes of interest fo …
In addition, we created an inducible version using an exon skipping strategy and achieved repeated, on-demand expression up to at least 36 w …
Unmet needs and evolving treatment for limb girdle muscular dystrophies.
Pozsgai E, Griffin D, Potter R, Sahenk Z, Lehman K, Rodino-Klapac LR, Mendell JR. Pozsgai E, et al. Among authors: mendell jr. Neurodegener Dis Manag. 2021 Oct;11(5):411-429. doi: 10.2217/nmt-2020-0066. Epub 2021 Sep 2. Neurodegener Dis Manag. 2021. PMID: 34472379 Free article. Review.
Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and efficacy of gene therapy applied to patient care. Lay abstract Limb-girdle muscular dystrophy is a term …
Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 th …
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.
Mitelman O, Abdel-Hamid HZ, Byrne BJ, Connolly AM, Heydemann P, Proud C, Shieh PB, Wagner KR, Dugar A, Santra S, Signorovitch J, Goemans N; investigators from the LNMRC Natural History study; McDonald CM; investigators from the CINRG Duchenne National History Study; Mercuri E; investigators from The DMD Italian Group; Mendell JR. Mitelman O, et al. Among authors: mendell jr. J Neuromuscul Dis. 2022;9(1):39-52. doi: 10.3233/JND-210665. J Neuromuscul Dis. 2022. PMID: 34420980 Free PMC article. Clinical Trial.
Chart review Study 4658-405 (405) further followed these patients while receiving eteplirsen during usual clinical care. OBJECTIVE: To compare long-term clinical outcomes of eteplirsen-treated patients from Studies 201/202/405 with those of external controls. ...
Chart review Study 4658-405 (405) further followed these patients while receiving eteplirsen during usual clinical care. OBJECTIVE: To compa …
Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy.
Mendell JR, Al-Zaidy SA, Lehman KJ, McColly M, Lowes LP, Alfano LN, Reash NF, Iammarino MA, Church KR, Kleyn A, Meriggioli MN, Shell R. Mendell JR, et al. JAMA Neurol. 2021 Jul 1;78(7):834-841. doi: 10.1001/jamaneurol.2021.1272. JAMA Neurol. 2021. PMID: 33999158 Free PMC article. Clinical Trial.
IMPORTANCE: This ongoing study assesses long-term safety and durability of response in infants with spinal muscular atrophy (SMA) type 1 after dosing with onasemnogene abeparvovec gene replacement therapy. ...CONCLUSIONS AND RELEVANCE: The findings of this ongoing clinical …
IMPORTANCE: This ongoing study assesses long-term safety and durability of response in infants with spinal muscular atrophy (SMA) typ …
Spinal Muscular Atrophy.
Nicolau S, Waldrop MA, Connolly AM, Mendell JR. Nicolau S, et al. Among authors: mendell jr. Semin Pediatr Neurol. 2021 Apr;37:100878. doi: 10.1016/j.spen.2021.100878. Epub 2021 Feb 11. Semin Pediatr Neurol. 2021. PMID: 33892848 Review.
These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the …
These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs ar …
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, Muni Lofra R, Moore U, Feng J, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hernández I, Holsten S, Sakamoto C, Canal A, Sanchez-Aguilera Práxedes N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Díaz-Manera J, Pegoraro E, Mendell JR; Jain COS Consortium; Mayhew AG, Straub V. Jacobs MB, et al. Among authors: mendell jr. Ann Neurol. 2021 May;89(5):967-978. doi: 10.1002/ana.26044. Epub 2021 Feb 26. Ann Neurol. 2021. PMID: 33576057 Free article.
Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short-term for clinical trial preparation. Through further work and validation in this cohort, we anticipate tha …
Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disea …
35 results