PUBLICATIONS

FEATURED PUBLICATIONS

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

RECENT PUBLICATIONS

Vetter TA, Lawlor MW. Automated Quantification of Dystrophin Expression by Immunofluorescence in Humans and Animal Models. Methods Mol Biol. 2026;2975:67-87. doi: 10.1007/978-1-0716-4811-7_5. PMID: 41028309.

Meng H, Ott EM, Prom MJ, Beatka MJ, Vetter TA, Lawlor MW. Manual Immunofluorescence Staining for Dystrophin and Key Dystrophin-Associated Proteins. Methods Mol Biol. 2026;2975:47-65. doi: 10.1007/978-1-0716-4811-7_4. PMID: 41028308.

Beatka MJ, Prom MJ, Haberman M, Sutton J, Gonzalez JP, Lawlor MW. Quantitative Evaluation of Dystrophin Expression Using SDS-PAGE Western Blot Methods. Methods Mol Biol. 2026;2975:89-109. doi: 10.1007/978-1-0716-4811-7_6. PMID: 41028310.

Shieh PB, Hughes W, Wood M, Beggs AH, Lawlor MW, Coats J, Varfaj F, Graham RJ, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Buj Bello A, Servais L, MacBean V, Muntoni F, Foley AR, Blaschek A, James ES, Seferian A, Alfano LN, Duong T, Noursalehi M, Miller W, Lee J, Prasad S, Rico S. Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study. Ther Adv Rare Dis. 2025 Sep 18;6:26330040251362885. doi: 10.1177/26330040251362885. PMID: 40979471; PMCID: PMC12449642.

Tinklenberg JA, Sutton J, Slick RA, Meng H, Haberman M, Prom MJ, Beatka MJ, Vetter TA, Daugherty AL, Pacak C, Gonzalez JP, Lawlor MW. The D2.B10-Dmdmdx/J mouse model of DMD exhibits a severe mitochondrial deficiency not observed in the C57BL/10ScSn-Dmdmdx/J mouse. Am J Pathol. 2025 Sep 30:S0002-9440(25)00362-1. doi: 10.1016/j.ajpath.2025.09.005. Epub ahead of print. PMID: 41038271.

Tong L, Ozes B, Moss K, Myers M, Attia Z, Vetter TA, Trapp BD, Sahenk Z. AAV1.NT3 gene therapy mitigates the severity of autoimmune encephalomyelitis in the mouse model for multiple sclerosis. Gene Ther. 2025 Jul;32(4):410-420. doi: 10.1038/s41434-025-00518-9. Epub 2025 Feb 19. PMID: 39972161; PMCID: PMC12310518.

Chornyy S, Herstine JA, Holaway C, Biddle A, Vetter TA, Pyne NK, Bradbury AM. Comparative analysis of cell-specific promoters in AAV9-mediated gene therapy targeting the central nervous system. Mol Ther Methods Clin Dev. 2025 Sep 5;33(4):101588. doi: 10.1016/j.omtm.2025.101588. PMID: 41036104; PMCID: PMC12481918.

Lam P, Zygmunt DA, Ashbrook A, Bennett M, Vetter TA, Martin PT. Dual FKRP/FST gene therapy normalizes ambulation, increases strength, decreases pathology, and amplifies gene expression in LGMDR9 mice. Mol Ther. 2024 Aug 7;32(8):2604-2623. doi: 10.1016/j.ymthe.2024.06.028. Epub 2024 Jun 22. PMID: 38910327; PMCID: PMC11405156.

Baird MC, Likhite SB, Vetter TA, Caporale JR, Girard HB, Roussel FS, Howard AE, Schwartz MK, Reed AR, Kaleem A, Zhang X, Meyer KC. Combination AAV therapy with galectin-1 and SOD1 downregulation demonstrates superior therapeutic effect in a severe ALS mouse model. Mol Ther Methods Clin Dev. 2024 Aug 6;32(3):101312. doi: 10.1016/j.omtm.2024.101312. PMID: 39257530; PMCID: PMC11385756.

Herstine JA, Chang PK, Chornyy S, Stevenson TJ, Sunshine AC, Nokhrina K, Rediger J, Wentz J, Vetter TA, Scholl E, Holaway C, Pyne NK, Bratasz A, Yeoh S, Flanigan KM, Bonkowsky JL, Bradbury AM. Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease. Mol Ther. 2024 Jun 5;32(6):1701-1720. doi: 10.1016/j.ymthe.2024.03.034. Epub 2024 Mar 27. PMID: 38549375; PMCID: PMC11184306.

Karimi E, Gohlke J, van der Borgh M, Lindqvist J, Hourani Z, Kolb J, Cossette S, Lawlor MW, Ottenheijm C, Granzier H. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease and mechanisms and omecamtiv mecarbil force effects. Acta Neuropathol. 2024 Apr 18;147(1):72. doi: 10.1007/s00401-024-02726-w. PMID: 38634969

Chang JC, Ryan MR, Stark MC, Liu S, Purushothaman P, Bolan F, Johnson CA, Champe M, Meng H, Lawlor MW, Halawani S, Ngaba LV, Lynch DR, Davis C, Gonzalo-Gil E, Lutz C, Urbinati F, Medicherla B, Fonck C. AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia. Mol Ther Methods Clin Dev. 2024 Jan 22;32(1):101193. doi: 10.1016/j.omtm.2024.101193. eCollection 2024 Mar 14. PMID: 38352270

Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. PMID: 380861569

Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. PMID: 37977713

Tinklenberg JA, Slick RA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Hardeman EC, Geurts AM, Stowe DF, Hill RB, Lawlor MW. Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. Am J Pathol. 2023 Oct;193(10):1528-1547. doi: 10.1016/j.ajpath.2023.06.009. Epub 2023 Jul 6. PMID: 37422147

Slick RA, Tinklenberg JA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Granzier H, Geurts AM, Stowe DF, Hill RB, Lawlor MW. Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy Am J Pathol. 2023 Oct;193(10):1548-1567. doi: 10.1016/j.ajpath.2023.06.008. Epub 2023 Jul 5. PMID: 37419385

Gushchina LV, Bradley AJ, Vetter TA, Lay JW, Rohan NL, Frair EC, Wein N, Flanigan KM. Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model. Mol Ther Methods Clin Dev. 2023 Oct 26;31:101144. doi: 10.1016/j.omtm.2023.101144. PMID: 38027058; PMCID: PMC10679948.

Karolczak S, Deshwar AR, Aristegui E, Kamath BM, Lawlor MW, Andreoletti G, Volpatti J, Ellis JL, Yin C, Dowling JJ. Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy J Clin Invest. 2023 Sep 15; 133(18):e166275. doi: 10.1172/JCI166275. PMID: 37490339

Stephenson AA, Nicolau S, Vetter TA, Dufresne GP, Frair EC, Sarff JE, Wheeler GL, Kelly BJ, White P, Flanigan KM. CRISPR-Cas9 homology-independent targeted integration of exons 1-19 restores full-length dystrophin in mice. Mol Ther Methods Clin Dev. 2023 Aug 18;30:486-499. doi: 10.1016/j.omtm.2023.08.009. PMID: 37706184; PMCID: PMC10495553.

Almeida CF, Robriquet F, Vetter TA, Huang N, Neinast R, Hernandez-Rosario L, Rajakumar D, Arnold WD, McBride KL, Flanigan KM, Weiss RB, Wein N. Promising AAV.U7snRNAs vectors targeting <i>DMPK</i> improve DM1 hallmarks in patient-derived cell lines. Front Cell Dev Biol. 2023 Jun 15;11:1181040. doi: 10.3389/fcell.2023.1181040. PMID: 37397246; PMCID: PMC10309041.

Schwartz MK, Likhite S, Vetter TA, Baird MC, McGovern V, Sierra Delgado A, Mendel T, Burghes A, Meyer KC. In-depth comparison of Anc80L65 and AAV9 retinal targeting and characterization of cross-reactivity to multiple AAV serotypes in humans. Mol Ther Methods Clin Dev. 2023 May 16;30:16-29. doi: 10.1016/j.omtm.2023.05.016. PMID: 37746244; PMCID: PMC10512013.

Gartz M, Haberman M, Sutton J, Slick RA, Luttrell SM, Mack DL, Lawlor MW. ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy. Exp Cell Res. 2023 Mar 15;424(2):113507. doi: 10.1016/j.yexcr.2023.113507. Epub 2023 Feb 14. PMID: 36796746

Chen X, Lim DA, Lawlor MW, Dimmock D, Vite C, Lester T, Tavakkoli F, Sadhu C, Prasad S, Gray SJ. Biodistribution of adeno-associated virus gene therapy following CSF-directed administration. Hum Gene Ther. 2023 Jan 6. doi: 10.1089/hum.2022.163. PMID: 36606687

Birch SM, Lawlor MW, Conlon TJ, Guo LJ, Crudele JM, Hawkins EC, Nghiem PP, Ahn M, Meng H, Beatka MJ, Fickau BA, Prieto JC, Styner MA, Struharik MJ, Shanks C, Brown KJ, Golebiowski D, Bettis AK, Balog-Alvarez CJ, Clement N, Coleman KE, Corti M, Pan X, Hauschka SD, Gonzalez JP, Morris CA, Schneider JS, Duan D, Chamberlain JS, Byrne BJ, Kornegay JN. Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy. Sci Transl Med. 2023 Jan 4;15(677):eabo1815. doi: 10.1126/scitranslmed.abo1815. Epub 2023 Jan 4.PMID: 36599002

Boehler JF, Brown KJ, Beatka M, Gonzalez JP, Donisa Dreghici R, Soustek-Kramer M, McGonigle S, Ganot A, Palmer T, Lowie C, Chamberlain JS, Lawlor MW, Morris CA. Clinical potential of microdystrophin as a surrogate endpoint. Neuromuscul Disord. 2022 Dec 14;S0960-8966(22)00731-3. doi: 10.1016/j.nmd.2022.12.007. PubMed PMID: 36575103.

Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Nov 9;30:479-492. doi: 10.1016/j.omtn.2022.10.025. PMID: 36420217; PMCID: PMC9678653.

Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Sep 2;27:47-60. doi: 10.1016/j.omtm.2022.08.009. PMID: 36186954; PMCID: PMC9483573.

Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Jul 11;26:279-293. doi: 10.1016/j.omtm.2022.07.005. PMID: 35949298; PMCID: PMC9356240.

Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, Lee J, Coats J, Lilien C, Lowes LP, MacBean V, Neuhaus S, Noursalehi M, Pitts T, Finlay C, Christensen S, Rafferty G, Seferian AM, Tsuchiya E, James ES, Miller W, Sepulveda B, Vila MC, Prasad S, Rico S, Shieh PB; INCEPTUS investigators. INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2022;9(4):503-516. doi: 10.3233/JND-210781. PubMed PMID: 35694931.

Molera C, Sarishvili T, Nascimento A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H, Lawlor MW. Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report. J Neuromuscul Dis. 2022;9(1):73-82. doi: 10.3233/JND-210712. PubMed PMID: 34366366; PubMed Central PMCID: PMC8842755.

Eggers M, Vannoy CH, Huang J, Purushothaman P, Brassard J, Fonck C, Meng H, Prom MJ, Lawlor MW, Cunningham J, Sadhu C, Mavilio F. Muscle-directed gene therapy corrects Pompe disease and uncovers species-specific GAA immunogenicity. EMBO Mol Med. 2022 Jan 11;14(1):e13968. doi: 10.15252/emmm.202113968. Epub 2021 Dec 1. PubMed PMID: 34850579; PubMed Central PMCID: PMC8749482.

Gartz M, Haberman M, Prom MJ, Beatka MJ, Strande JL, Lawlor MW. A Long-Term Study Evaluating the Effects of Nicorandil Treatment on Duchenne Muscular Dystrophy-Associated Cardiomyopathy in mdx Mice. J Cardiovasc Pharmacol Ther. 2022 Jan-Dec;27:10742484221088655. doi: 10.1177/10742484221088655. PubMed PMID: 35353647.

Gartz M, Beatka M, Prom MJ, Strande JL, Lawlor MW. Cardiomyocyte-produced miR-339-5p mediates pathology in Duchenne muscular dystrophy cardiomyopathy. Hum Mol Genet. 2021 Nov 16;30(23):2347-2361. doi: 10.1093/hmg/ddab199. PubMed PMID: 34270708; PubMed Central PMCID: PMC8600005.

Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2022 Apr;48(3):e12785. doi: 10.1111/nan.12785. Epub 2021 Dec 28. PMID: 34847621; PMCID: PMC9184255.

Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Mar 23;21:325-340. doi: 10.1016/j.omtm.2021.03.014. PMID: 33898631; PMCID: PMC8047432.

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