Search Results - "Alfano, Lindsay"

Random forest: random results or meaningful insights for patients with facioscapulohumeral muscular dystrophy? by Alfano, Lindsay N, Mozaffar, Tahseen

“…This scientific commentary refers to ‘Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy’ by Katz et al…”
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Five-Year Extension Results of the Phase 1 START Trial of Onasemnogene Abeparvovec in Spinal Muscular Atrophy by Mendell, Jerry R, Al-Zaidy, Samiah A, Lehman, Kelly J, McColly, Markus, Lowes, Linda P, Alfano, Lindsay N, Reash, Natalie F, Iammarino, Megan A, Church, Kathleen R, Kleyn, Aaron, Meriggioli, Matthew N, Shell, Richard

“…This ongoing study assesses long-term safety and durability of response in infants with spinal muscular atrophy (SMA) type 1 after dosing with onasemnogene…”
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Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial by Mendell, Jerry R, Sahenk, Zarife, Lehman, Kelly, Nease, Carrie, Lowes, Linda P, Miller, Natalie F, Iammarino, Megan A, Alfano, Lindsay N, Nicholl, Amanda, Al-Zaidy, Samiah, Lewis, Sarah, Church, Kathleen, Shell, Richard, Cripe, Linda H, Potter, Rachael A, Griffin, Danielle A, Pozsgai, Eric, Dugar, Ashish, Hogan, Mark, Rodino-Klapac, Louise R

“…Micro-dystrophin gene transfer shows promise for treating patients with Duchenne muscular dystrophy (DMD) using recombinant adeno-associated virus serotype…”
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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy by Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio

“…Objective To continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in…”
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Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy by P Lowes, Linda, Alfano, Lindsay N, Iammarino, Megan A, Reash, Natalie F, Giblin, Kathryn, Hu, Larry, Yu, Lixi, Wang, Shufang, Salazar, Rachel, Mendell, Jerry R

“…Conducting functional assessments remotely can help alleviate the burden of in-person assessment on patients with Duchenne muscular dystrophy and their…”
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Gene Therapy for Spinal Muscular Atrophy: Safety and Early Outcomes by Waldrop, Megan A, Karingada, Cassandra, Storey, Mike A, Powers, Brenna, Iammarino, Megan A, Miller, Natalie F, Alfano, Lindsay N, Noritz, Garey, Rossman, Ian, Ginsberg, Matthew, Mosher, Kathryn A, Broomall, Eileen, Goldstein, Jessica, Bass, Nancy, Lowes, Linda P, Tsao, Chang-Yong, Mendell, Jerry R, Connolly, Anne M

“…Historically, autosomal recessive 5q-linked spinal muscular atrophy (SMA) has been the leading inherited cause of infant death. SMA is caused by the absence of…”
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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial by Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador

“…X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which is caused by mutations in MTM1. No…”
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Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy by Lowes, Linda P., Alfano, Lindsay N., Arnold, W. David, Shell, Richard, Prior, Thomas W., McColly, Markus, Lehman, Kelly J., Church, Kathleen, Sproule, Douglas M., Nagendran, Sukumar, Menier, Melissa, Feltner, Douglas E., Wells, Courtney, Kissel, John T., Al-Zaidy, Samiah, Mendell, Jerry

“…This study characterizes motor function responses after early dosing of AVXS-101 (onasemnogene abeparvovec) in gene replacement therapy in infants with severe…”
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Development of Duchenne Video Assessment scorecards to evaluate ease of movement among those with Duchenne muscular dystrophy by Contesse, Marielle G, Lowes, Linda P, White, Michelle K, Dalle Pazze, Laura, McSherry, Christine, Alfano, Lindsay N, Iammarino, Megan, Reash, Natalie, Bonarrigo, Kelly, Kiefer, Michael, Laubscher, Katie, McIntyre, Melissa, Mockler, Shelley, Nelson, Leslie, Vogel, Leslie, Leffler, Mindy G

“…Patients with Duchenne muscular dystrophy (DMD) adopt compensatory movement patterns as muscles weaken. The Duchenne Video Assessment (DVA) measures patient…”
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Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy by Al‐Zaidy, Samiah, Pickard, A. Simon, Kotha, Kavitha, Alfano, Lindsay N., Lowes, Linda, Paul, Grace, Church, Kathleen, Lehman, Kelly, Sproule, Douglas M., Dabbous, Omar, Maru, Benit, Berry, Katherine, Arnold, W. David, Kissel, John T., Mendell, Jerry R., Shell, Richard

“…Background Spinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent‐ventilation by 13.6…”
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A Phase 1/2a Follistatin Gene Therapy Trial for Becker Muscular Dystrophy by Mendell, Jerry R, Sahenk, Zarife, Malik, Vinod, Gomez, Ana M, Flanigan, Kevin M, Lowes, Linda P, Alfano, Lindsay N, Berry, Katherine, Meadows, Eric, Lewis, Sarah, Braun, Lyndsey, Shontz, Kim, Rouhana, Maria, Clark, Kelly Reed, Rosales, Xiomara Q, Al-Zaidy, Samiah, Govoni, Alessandra, Rodino-Klapac, Louise R, Hogan, Mark J, Kaspar, Brian K

“…Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations. Phenotype is variable with loss of ambulation in late…”
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Eteplirsen for the treatment of Duchenne muscular dystrophy by Mendell, Jerry R., Rodino-Klapac, Louise R., Sahenk, Zarife, Roush, Kandice, Bird, Loren, Lowes, Linda P., Alfano, Lindsay, Gomez, Ann Maria, Lewis, Sarah, Kota, Janaiah, Malik, Vinod, Shontz, Kim, Walker, Christopher M., Flanigan, Kevin M., Corridore, Marco, Kean, John R., Allen, Hugh D., Shilling, Chris, Melia, Kathleen R., Sazani, Peter, Saoud, Jay B., Kaye, Edward M.

“…Objective In prior open‐label studies, eteplirsen, a phosphorodiamidate morpholino oligomer, enabled dystrophin production in Duchenne muscular dystrophy (DMD)…”
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Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study by Iammarino, Megan A, Alfano, Lindsay N, Reash, Natalie F, Sabo, Brenna, Conroy, Sara, Noritz, Garey, Wendland, Madalynn, Lowes, Linda P

“…This single-arm prospective cohort study aimed to evaluate the feasibility and utility of in-home body weight support harness system (BWSS) use in children…”
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Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes by Mendell, Jerry R., Sahenk, Zarife, Al-Zaidy, Samiah, Rodino-Klapac, Louise R., Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Miller, Natalie, Yalvac, Mehmet, Dvorchik, Igor, Moore-Clingenpeel, Melissa, Flanigan, Kevin M., Church, Kathleen, Shontz, Kim, Curry, Choumpree, Lewis, Sarah, McColly, Markus, Hogan, Mark J., Kaspar, Brian K.

“…Sporadic inclusion body myositis, a variant of inflammatory myopathy, has features distinct from polymyositis/dermatomyositis. The disease affects men more…”
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Long‐term safety and functional outcomes of delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy: A phase 1/2a nonrandomized trial by Mendell, Jerry R., Sahenk, Zarife, Lehman, Kelly J., Lowes, Linda P., Reash, Natalie F., Iammarino, Megan A., Alfano, Lindsay N., Lewis, Sarah, Church, Kathleen, Shell, Richard, Potter, Rachael A., Griffin, Danielle A., Hogan, Mark, Wang, Shufang, Mason, Stefanie, Darton, Eddie, Rodino‐Klapac, Louise R.

“…Introduction/Aims Delandistrogene moxeparvovec is indicated in the United States for the treatment of ambulatory pediatric patients aged 4 through 5 years with…”
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Genetics and Emerging Treatments for Duchenne and Becker Muscular Dystrophy by Wein, Nicolas, PhD, Alfano, Lindsay, DPT, Flanigan, Kevin M., MD

“…Mutations in the DMD gene result in Duchenne or Becker muscular dystrophy due to absent or altered expression of the dystrophin protein. The more severe…”
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Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy by Alfano, Lindsay N., Charleston, Jay S., Connolly, Anne M., Cripe, Linda, Donoghue, Cas, Dracker, Robert, Dworzak, Johannes, Eliopoulos, Helen, Frank, Diane E., Lewis, Sarah, Lucas, Karin, Lynch, Jessie, Milici, A. J., Flynt, Amy, Naughton, Emily, Rodino-Klapac, Louise R., Sahenk, Zarife, Schnell, Frederick J., Young, G. David, Mendell, Jerry R., Lowes, Linda P.

“…This analysis aims to describe the outcomes of two nonambulatory patients with Duchenne muscular dystrophy (DMD) who participated in two clinical studies. The…”
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Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results by Mendell, Jerry R., Pozsgai, Eric R., Lewis, Sarah, Griffin, Danielle A., Lowes, Linda P., Alfano, Lindsay N., Lehman, Kelly J., Church, Kathleen, Reash, Natalie F., Iammarino, Megan A., Sabo, Brenna, Potter, Rachael, Neuhaus, Sarah, Li, Xiaoxi, Stevenson, Herb, Rodino-Klapac, Louise R.

“…Limb-girdle muscular dystrophy 2E/R4 is caused by mutations in the β-sarcoglycan ( SGCB ) gene, leading to SGCB deficiency and consequent muscle loss. We…”
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A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity by Flanigan, Kevin M, Waldrop, Megan A, Martin, Paul T, Alles, Roxane, Dunn, Diane M, Alfano, Lindsay N, Simmons, Tabatha R, Moore-Clingenpeel, Melissa, Burian, John, Seok, Sang-Cheol, Weiss, Robert B, Vieland, Veronica J

“…The major determinant of disease severity in Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether the dystrophin gene (DMD)…”
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AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort by Al-Zaidy, Samiah A, Kolb, Stephen J, Lowes, Linda, Alfano, Lindsay N, Shell, Richard, Church, Kathleen R, Nagendran, Sukumar, Sproule, Douglas M, Feltner, Douglas E, Wells, Courtney, Ogrinc, Francis, Menier, Melissa, L'Italien, James, Arnold, W David, Kissel, John T, Kaspar, Brian K, Mendell, Jerry R

“…Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant mortality for which therapies, including AVXS-101 (onasemnogene abeparvovec,…”
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