Search Results - "Lowes, Linda"

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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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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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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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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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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Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study by Chabanon, Aurélie, Seferian, Andreea Mihaela, Daron, Aurore, Péréon, Yann, Cances, Claude, Vuillerot, Carole, De Waele, Liesbeth, Cuisset, Jean-Marie, Laugel, Vincent, Schara, Ulrike, Gidaro, Teresa, Gilabert, Stéphanie, Hogrel, Jean-Yves, Baudin, Pierre-Yves, Carlier, Pierre, Fournier, Emmanuel, Lowes, Linda Pax, Hellbach, Nicole, Seabrook, Timothy, Toledano, Elie, Annoussamy, Mélanie, Servais, Laurent

“…Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range…”
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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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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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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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‘Learn From Every Patient’: implementation and early results of a learning health system by Lowes, Linda P, Noritz, Garey H, Newmeyer, Amy, Embi, Peter J, Yin, Han, Smoyer, William E, Tidball, Abigail, Love, Lamara, Schmidt, Jeffery, Golias, Justin, Miller, Michelle

“…Aim The convergence of three major trends in medicine, namely conversion to electronic health records (EHRs), prioritization of translational research, and the…”
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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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Ambient floor vibration sensing advances the accessibility of functional gait assessments for children with muscular dystrophies by Dong, Yiwen, Iammarino, Megan, Liu, Jingxiao, Codling, Jesse, Fagert, Jonathon, Mirshekari, Mostafa, Lowes, Linda, Zhang, Pei, Noh, Hae Young

“…Muscular dystrophies (MD) are a group of genetic neuromuscular disorders that cause progressive weakness and loss of muscles over time, influencing 1 in…”
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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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First Regulatory Qualification of a Novel Digital Endpoint in Duchenne Muscular Dystrophy: A Multi-Stakeholder Perspective on the Impact for Patients and for Drug Development in Neuromuscular Diseases by Servais, Laurent, Camino, Eric, Clement, Aude, McDonald, Craig M., Lukawy, Jacek, Lowes, Linda P., Eggenspieler, Damien, Cerreta, Francesca, Strijbos, Paul

“…Background: Functional outcome measures used to assess efficacy in clinical trials of investigational treatments for rare neuromuscular diseases like Duchenne…”
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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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Home‐based video assessment of ease of movement for patients with Duchenne: Interviews with physical therapists to select movement tasks by Contesse, Marielle G., Hodges, Jason, Staunton, Hannah, Lowes, Linda P., Elmankabadi, Bassem, Elder, Sonya J., Ormazabal, Maitea Guridi, Dalle Pazze, Laura, Leffler, Mindy G.

“…Background and Purpose Patients with Duchenne muscular dystrophy (DMD) change their movement patterns to compensate for muscle weakness. The Duchenne Video…”
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Patient reported quality of life in limb girdle muscular dystrophy by Kovalchick, Laurel V, Bates, Kameron, Statland, Jeffrey, Weihl, Conrad, Kang, Peter B, Lowes, Linda P, Mozaffar, Tahseen, Straub, Volker, Wicklund, Matthew, Heatwole, Chad, Johnson, Nicholas E

“…•The most prevalent themes were related to mobility and ambulation.•Patients reported a high frequency of social limitations and emotional challenges.•LGMD…”
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