Search Results - "Reyna, Sandra P."

Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series by Chand, Deepa H., Zaidman, Craig, Arya, Kapil, Millner, Rachel, Farrar, Michelle A., Mackie, Fiona E., Goedeker, Natalie L., Dharnidharka, Vikas R., Dandamudi, Raja, Reyna, Sandra P.

“…Spinal muscular atrophy is treated with onasemnogene abeparvovec, which replaces the missing survival motor neuron 1 gene via an adeno-associated virus vector…”
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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study by De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

“…•NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA.•All infants were ≥25 months old, and alive without permanent…”
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Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States by Lally, Cathy, Jones, Cynthia, Farwell, Wildon, Reyna, Sandra P, Cook, Suzanne F, Flanders, W Dana

“…Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature…”
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SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy by Swoboda, Kathryn J, Scott, Charles B, Crawford, Thomas O, Simard, Louise R, Reyna, Sandra P, Krosschell, Kristin J, Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K, D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W, Sorenson, Susan L, Maczulski, Jo Anne, Bromberg, Mark B, Chan, Gary M, Kissel, John T

“…Valproic acid (VPA) has demonstrated potential as a therapeutic candidate for spinal muscular atrophy (SMA) in vitro and in vivo. Two cohorts of subjects were…”
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Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function by Swoboda, Kathryn J., Prior, Thomas W., Scott, Charles B., McNaught, Teresa P., Wride, Mark C., Reyna, Sandra P., Bromberg, Mark B.

“…Denervation was assessed in 89 spinal muscular atrophy (SMA) 1, 2, and 3 subjects via motor unit number estimation (MUNE) and maximum compound motor action…”
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Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome by Sweney, Matthew T, Silver, Kenneth, Gerard-Blanluet, Marion, Pedespan, Jean-Michel, Renault, Francis, Arzimanoglou, Alexis, Schlesinger-Massart, Mylynda, Lewelt, Aga J, Reyna, Sandra P, Swoboda, Kathryn J

“…Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. In more than 3 decades since its…”
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Phase II open label study of valproic acid in spinal muscular atrophy by Swoboda, Kathryn J, Scott, Charles B, Reyna, Sandra P, Prior, Thomas W, LaSalle, Bernard, Sorenson, Susan L, Wood, Janine, Acsadi, Gyula, Crawford, Thomas O, Kissel, John T, Krosschell, Kristin J, D'Anjou, Guy, Bromberg, Mark B, Schroth, Mary K, Chan, Gary M, Elsheikh, Bakri, Simard, Louise R

“…Preliminary in vitro and in vivo studies with valproic acid (VPA) in cell lines and patients with spinal muscular atrophy (SMA) demonstrate increased…”
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Safety of Onasemnogene Abeparvovec for Patients With Spinal Muscular Atrophy 8.5 kg or Heavier in a Global Managed Access Program by Chand, Deepa H., Mitchell, Susan, Sun, Rui, LaMarca, Nicole, Reyna, Sandra P., Sutter, Thao

“…Spinal muscular atrophy is a rare, neurodegenerative disorder caused by biallelic deletions in the survival motor neuron (SMN1) gene. Onasemnogene abeparvovec…”
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Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy by Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A., Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.

“…Introduction This is the first description of safety data for intravenous onasemnogene abeparvovec, the only approved systemically administered…”
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Treatment preferences in spinal muscular atrophy: A swing weighting study for caregivers of patients with SMA types 1 and 2 by Patel, Anish, Toro, Walter, Bourke, Siobhan, Oluboyede, Yemi, Barbier, Sylvaine, Bogoeva, Nataliya, Reyna, Sandra P, Dabbous, Omar

“…Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder characterized by skeletal muscle weakness and atrophy. Patients with SMA types 1 and 2…”
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Natural history of infantile‐onset spinal muscular atrophy by Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Iannaccone, Susan T., Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, Kissel, John T.

“…Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2…”
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Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA by Bartlett, Amy, Kolb, Stephen J, Kingsley, Allison, Swoboda, Kathryn J, Reyna, Sandra P, Sakonju, Ai, Darras, Basil T, Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T, Parsons, Julie, Connolly, Anne M, Chiriboga, Claudia A, McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B, Finanger, Erika, Coffey, Christopher S, Yankey, Jon W, Cudkowicz, Merit E, McGovern, Michelle M, McNeil, D. Elizabeth, Arnold, W. David, Kissel, John T

“…Abstract Background/Aims Recruitment and retention of research participants are challenging and critical components of successful clinical trials and natural…”
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Perspectives on Clinical Trials in Spinal Muscular Atrophy by Swoboda, Kathryn J., Kissel, John T., Crawford, Thomas O., Bromberg, Mark B., Acsadi, Gyula, D'Anjou, Guy, Krosschell, Kristin J., Reyna, Sandra P., Schroth, Mary K., Scott, Charles B., Simard, Louise R.

“…Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the…”
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Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial by Shell, Richard D., McGrattan, Katlyn E., Hurst-Davis, Rebecca, Young, Sally Dunaway, Baranello, Giovanni, Lavrov, Arseniy, O'Brien, Eamonn, Wallach, Shiri, LaMarca, Nicole, Reyna, Sandra P., Darras, Basil T.

“…•Bulbar function includes normal swallow, oral nutrition, and pulmonary stability.•Onasemnogene abeparvovec before SMA symptom onset preserves bulbar…”
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Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy by Elsheikh, Bakri, King, Wendy, Peng, Juan, Swoboda, Kathy J., Reyna, Sandra P., LaSalle, Bernard, Prior, Thomas W., Arnold, W. David, Kissel, John T., Kolb, Stephen J.

“…Introduction With the advent of disease‐altering therapies for spinal muscular atrophy (SMA), there is a requirement to better characterize outcome measures,…”
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Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy by Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A., Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.

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Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation by Olson, Timothy M, Michels, Virginia V, Ballew, Jeffrey D, Reyna, Sandra P, Karst, Margaret L, Herron, Kathleen J, Horton, Steven C, Rodeheffer, Richard J, Anderson, Jeffrey L

“…CONTEXT Dilated cardiomyopathy (DCM), a genetically heterogeneous disorder, causes heart failure and rhythm disturbances. The majority of identified DCM genes…”
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SMA valiant trial: A prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy by Kissel, John T., Elsheikh, Bakri, King, Wendy M., Freimer, Miriam, Scott, Charles B., Kolb, Stephen J., Reyna, Sandra P., Crawford, Thomas O., Simard, Louise R., Krosschell, Kristin J., Acsadi, Gyula, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan, Maczulski, Jo Anne, Swoboda, Kathryn J.

“…ABSTRACT Introduction: An open‐label trial suggested that valproic acid (VPA) improved strength in adults with spinal muscular atrophy (SMA). We report a…”
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Compound muscle action potential and motor function in children with spinal muscular atrophy by Lewelt, Aga, Krosschell, Kristin J., Scott, Charles, Sakonju, Ai, Kissel, John T., Crawford, Thomas O., Acsadi, Gyula, D'anjou, Guy, Elsheikh, Bakri, Reyna, Sandra P., Schroth, Mary K., Maczulski, Jo Anne, Stoddard, Gregory J., Elovic, Elie, Swoboda, Kathryn J.

“…Reliable outcome measures that reflect the underlying disease process and correlate with motor function in children with SMA are needed for clinical trials…”
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SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy by Kissel, John T, Scott, Charles B, Reyna, Sandra P, Crawford, Thomas O, Simard, Louise R, Krosschell, Kristin J, Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K, D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W, Sorenson, Susan, Maczulski, Jo Anne, Bromberg, Mark B, Chan, Gary M, Swoboda, Kathryn J

“…Background Multiple lines of evidence have suggested that valproic acid (VPA) might benefit patients with spinal muscular atrophy (SMA). The SMA CARNIVAL TRIAL…”
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