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23 results on '"Schultz, Meredith"'

1. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Author

Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, and Mendell, Jerry R

Published
2021
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4. Is prophylactic formal fusion with implant revision necessary in non-ambulatory children with spinal muscular atrophy and growing rods who are no longer lengthened?

Author

Hanna, Rewais, Sharafinski, Mark, Patterson, Karen, Noonan, Kenneth J., Sund, Sarah, Schultz, Meredith, Schroth, Mary K., Hetzel, Scott, and Halanski, Matthew A.

Abstract

Study design: Single center, retrospective chart review. Objectives: To determine if routine posterior spinal fusion (PSF) is unnecessary in non-ambulatory growing rod graduates with SMA. Summary of background data: Most non-ambulatory children with SMA develop early-onset scoliosis (EOS). Posterior growing rods (GR) have been shown safe and effective in managing spinal deformities in these children. The best management of these children, once graduated from their GR, is currently unknown. In this study, we report the clinical results of managing these children without routine definitive fusion following a course of GR treatment. Methods: A single-center, retrospective chart and radiographic review was performed on children with SMA treated with posterior distraction GR, with a two-year minimum follow-up since final lengthening. Electronic medical records and radiographs were reviewed for demographic variables, Cobb measurements, implant revisions, occult radiographic implant failure, symptomatic failure, and/or conversion to PSF. Result: 12 patients (2 type 1, 9 type 2, 1 type 1/2) met inclusion criteria. Mean age at growing rod insertion was 6.2 years of age (range 4.1–8.2) and age at final lengthening 10.3 years of age (range 9.3–11.9). The mean time between last lengthening and latest clinical or radiographic review was 5.5 (range 2.1–9.0) years. Average mean pre, post, final Cobb angles were 71°, 27° (p< 0.001), 25°. Following final lengthening, only one patient required hardware revision and conversion to definitive fusion in attempts to alleviate chronic hip pain, which was unsuccessful. One additional patient was found to have an occult rod failure that has not required treatment. Conclusion: While limited by sample size, this single-center cohort of non-ambulatory SMA patients with EOS treated with similar constructs suggests that routine, definitive fusion in SMA GR graduates may be unnecessary. Level of evidence: Level IV.

Published
2024
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5. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Author

Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary-Alice, Atkin, Joan, Babovic-Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben-Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat-Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández-Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano-Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin-Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, and Messiaen, Ludwine

Published
2015
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7. Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia

Author

Mueller, Arne, primary, Paterson, Elaine, additional, McIntosh, Avery, additional, Praestgaard, Jens, additional, Bylo, Mary, additional, Hoefling, Holger, additional, Wells, McKenzie, additional, Lynch, David R., additional, Rummey, Christian, additional, Krishnan, Michelle L., additional, Schultz, Meredith, additional, and Malanga, C. J., additional

Published
2021
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8. Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update (1828)

Author

Day, John W., primary, Chiriboga, Claudia A., additional, Crawford, Thomas O., additional, Darras, Basil T., additional, Finkel, Richard S., additional, Connolly, Anne M., additional, Iannaccone, Susan T., additional, Kuntz, Nancy L., additional, Peña, Loren D.M., additional, Shieh, Perry B., additional, Smith, Edward C., additional, Schultz, Meredith, additional, Feltner, Douglas E., additional, Tauscher-Wisniewski, Sitra, additional, Ogrinc, Francis G., additional, Shah, Ankita, additional, Ouyang, Haojun, additional, Macek, Thomas, additional, Kernbauer, Elaine, additional, Sproule, Douglas M., additional, and Mendell, Jerry R., additional

Published
2020
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9. Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy in Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update (2384)

Author

Strauss, Kevin A., primary, Farrar, Michelle A., additional, Swoboda, Kathryn J., additional, Saito, Kayoko, additional, Chiriboga, Claudia A., additional, Finkel, Richard S., additional, Iannaccone, Susan T., additional, Krueger, Jena M., additional, Kwon, Jennifer M., additional, McMillan, Hugh J., additional, Servais, Laurent, additional, Mendell, Jerry R., additional, Parsons, Julie, additional, Scoto, Mariacristina, additional, Shieh, Perry B., additional, Zaidman, Craig, additional, Schultz, Meredith, additional, Kernbauer, Elaine, additional, Joshi, Shivani, additional, Ogrinc, Francis G., additional, Kavanagh, Sarah, additional, Feltner, Douglas E., additional, Tauscher-Wisniewski, Sitra, additional, McGill, Bryan E., additional, Sproule, Douglas M., additional, and Muntoni, Francesco, additional

Published
2020
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11. Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update

Author

Day, John W., additional, Chiriboga, Claudia A., additional, Crawford, Thomas O., additional, Darras, Basil T., additional, Finkel, Richard S., additional, Connolly, Anne M., additional, Iannaccone, Susan T., additional, Kuntz, Nancy L., additional, Peña, Loren, additional, Schultz, Meredith, additional, Shieh, Perry B., additional, Smith, Edward C., additional, Ernst, Uwe, additional, Feltner, Douglas E., additional, Orgrinc, Francis G., additional, Shah, Ankita, additional, Ouyang, Haojun, additional, Macek, Thomas A., additional, Kernbauer, Elaine, additional, L’Italien, James, additional, Sproule, Douglas M., additional, Kaspar, Brian K., additional, and Medel, Jerry R., additional

Published
2019
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12. Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) in Pre-symptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update

Author

Schultz, Meredith, additional, Swoboda, Kathryn J., additional, Farrar, Michelle, additional, McMillan, Hugh, additional, Parsons, Julie, additional, Ernst, Uwe, additional, Kernbauer, Elaine, additional, Farrow, Marcia, additional, Ogrinc, Francis G., additional, Kavanagh, Sarah, additional, Feltner, Douglas E., additional, McGill, Bryan E., additional, Spector, Sidney A., additional, L’Italien, James, additional, Sproule, Douglas, additional, and Strauss, Kevin, additional

Published
2019
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13. 066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update

Author

Day, John W, primary, Chiriboga, Claudia A, additional, Crawford, Thomas O, additional, Darras, Basil T, additional, Finkel, Richard S, additional, Connolly, Anne M, additional, Iannaccone, Susan T, additional, Kuntz, Nancy L, additional, Pena, Loren DM, additional, Schultz, Meredith, additional, Shieh, Perry B, additional, Smith, Edward C, additional, Farrar, Michelle, additional, Feltner, Douglas E, additional, Ogrinc, Francis G, additional, Macek, Thomas A, additional, Kernbauer, Elaine, additional, Muehring, Lynlee M, additional, L’Italien, James, additional, Sproule, Douglas M, additional, Kaspar, Brian K, additional, and Mendell, Jerry R, additional

Published
2019
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14. 014 AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update

Author

Farrar, Michelle, primary, Swoboda, Kathryn J, additional, Schultz, Meredith, additional, McMillan, Hugh, additional, Parsons, Julie, additional, Alexander, Ian E, additional, Kernbauer, Elaine, additional, Farrow, Marcia, additional, Ogrinc, Francis G, additional, Feltner, Douglas E, additional, McGill, Bryan E, additional, Spector, Sidney A, additional, L’Italien, James, additional, Sproule, Douglas M, additional, and Strauss, Kevin A, additional

Published
2019
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15. AVXS-101 Gene-Replacement Therapy (GRT) in Presymptomatic Spinal Muscular Atrophy (SMA): Study Update (P1.6-057)

Author

Schultz, Meredith, primary, Swoboda, Kathryn, additional, Farrar, Michelle, additional, McMillan, Hugh, additional, Parsons, Julie, additional, Wells, Courtney, additional, Ogrinc, Francis G., additional, McGill, Bryan, additional, Feltner, Douglas E., additional, L’Italien, James, additional, Sproule, Douglas M., additional, and Strauss, Kevin A., additional

Published
2019
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16. AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update (P1.6-058)

Author

Day, John W., primary, Chiriboga, Claudia A., additional, Crawford, Thomas O., additional, Darras, Basil T., additional, Finkel, Richard S., additional, Connolly, Anne M., additional, Iannaccone, Susan T., additional, Kuntz, Nancy L., additional, Pena, Loren D.M., additional, Schultz, Meredith, additional, Shieh, Perry B., additional, Smith, Edward C., additional, Feltner, Douglas E., additional, Ogrinc, Francis G., additional, Macek, Thomas A., additional, Wells, Courtney, additional, Muehring, Lynlee M., additional, L’Italien, James, additional, Sproule, Douglas M., additional, Kaspar, Brian K., additional, and Mendell, Jerry R., additional

Published
2019
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17. Essai clinique portant sur la thérapie de remplacement d’un gène par AVXS-101 dans le traitement de l’amyotrophie spinale (ASI) pré-symptomatique : conception de l’étude de phase 3 et données démographiques lors de la visite de référence initiale

Author

Schultz, Meredith, primary, Swoboda, Kathryn, additional, Benguerba, Kamal, additional, Kernbauer, Elaine, additional, Ogrinc, Francis, additional, Feltner, Douglas E., additional, Mcgill, Bryan E., additional, Sproule, Douglas M., additional, and Strauss, Kevin A., additional

Published
2019
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18. Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) in Pre-symptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update.

Author

Schultz, Meredith, Swoboda, Kathryn J., Farrar, Michelle, McMillan, Hugh, Parsons, Julie, Ernst, Uwe, Kernbauer, Elaine, Farrow, Marcia, Ogrinc, Francis G., Kavanagh, Sarah, Feltner, Douglas E., McGill, Bryan E., Spector, Sidney A., L'Italien, James, Sproule, Douglas, and Strauss, Kevin

Subjects
*SPINAL muscular atrophy, *MOTOR neuron diseases
Published
2019
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20. Acute Demyelinating Lesion of the Upper Thoracic Spine Complicating Kawasaki Disease.

Author

Geevarghese, Bessey, Gaensbauer, James, Cataldi, Jessica, Schultz, Meredith, Asturias, Edwin J., and Dominguez, Samuel R.

Subjects
COMMUNICABLE diseases in children
Abstract

We present the first reported case of a child with Kawasaki disease (KD) complicated by meningoencephalitis and an acute focal demyelinating lesion. Neurologic outcome in this patient was excellent without any persistent neurologic deficits. We also review the neurologic complications associated with KD. [ABSTRACT FROM PUBLISHER]

Published
2013
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21. In-dash CB: lots of new choices and a chance for a bargain

Author

Schultz, Meredith

Subjects
Cobra 50XLR (CB radio), Kraco KCB04095 (CB radio), SBE Sidebander V (CB radio), Panasonic CR-B4700 (CB radio), Motorola CT950AX (CB radio), Kraco KCB-4060 (transeiver), Radio Shack One-Hander (transeiver), Cobra 62XLR (transeiver)
Published
1978

22. 15.33 AVXS-101 in presymptomatic spinal muscular atrophy (SMA)

Author

Strauss, Kevin A, Swoboda, Kathryn J, Farrar, Michelle A, McMillan, Hugh J, Parsons, Julie, Krueger, Jena M, Iannaccone, Susan T, Chiriboga, Claudia A, Kwon, Jennifer M, Saito, Kayoko, Scoto, Mariacristina, Kausar, Imran, Schultz, Meredith, Kernbauer, Elaine, Farrow, Marcia, Ogrinc, Francis G, Kavanagh, Sarah, Feltner, Douglas E, McGill, Bryan E, Spector, Sidney A, L’Italien, James, Sproule, Douglas M, and Muntoni, Francesco

Abstract

BackgroundOnasemnogene abeparvovec (AVXS-101) is a gene-replacement therapy that treats the genetic root cause of SMA, biallelic survival motor neuron 1 gene (SMN1) deletion/mutation. In a phase 1 study, AVXS-101 improved survival and motor function of symptomatic SMA type 1 patients. In SPR1NT (NCT03505099), AVXS-101 is being evaluated in presymptomatic newborns with SMA.MethodsSPR1NT is a multicenter, open-label, phase 3 study enrolling ≥27 SMA patients with 2xSMN2or 3xSMN2. Asymptomatic infants aged ≤6 weeks receive a one-time, intravenous AVXS-101 infusion. Safety and efficacy are assessed through 18 or 24 months for patients with 2x or 3xSMN2, respectively. Primary outcomes are independent sitting ≥30 seconds (2xSMN2) or assisted standing (3xSMN2).ResultsAs of 8 March 2019, 18 infants aged 8–40 days received AVXS-101 (11 female; 8 with 2xSMN2; 9 with 3xSMN2; 1 with 4xSMN2). Among patients with 2xSMN2, mean CHOP-INTEND at baseline was 44.0 points, which increased by 14.4 points at 3 months (n=7); 6/8 patients scored ≥60 points; 3/8 reached maximum score. 4/8 patients sat unassisted; all ages of sitting milestone achievements were within the WHO range (1st–99th percentile: 3.8–9.2 months).ConclusionsPreliminary data from SPR1NT show rapid motor function improvements in presymptomatic SMA patients.

Published
2019
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23. 250 AVXS-101 phase 3 study in spinal muscular atrophy type 1

Author

Day, John W, Chiriboga, Claudia A, Crawford, Thomas O, Darras, Basil T, Finkel, Richard S, Connolly, Anne M, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren DM, Schultz, Meredith, Shieh, Perry B, Smith, Edward C, Kausar, Imran, Feltner, Douglas E, Ogrinc, Francis G, Ouyang, Haojun, Macek, Thomas A, Kernbauer, Elaine, Muehring, Lynlee M, L’Italien, James, Sproule, Douglas M, Kaspar, Brian K, and Mendell, Jerry R

Abstract

BackgroundOnasemnogene abeparvovec (AVXS-101), a one-time intravenous gene-replacement therapy, treats the genetic root cause of spinal muscular atrophy (SMA). In the phase 1 study, AVXS-101 dramatically improved survival, motor function, and motor milestone achievement in SMA type 1 (SMA1) patients.MethodsSTR1VE is a phase 3, multicenter, open-label study (NCT03306277) in SMA1 patients <6 months (bi-allelic survival motor neuron 1 gene [SMN1] mutations/deletions, 2 SMN2copies). Primary outcomes are independent sitting ≥30 seconds at 18 months of age, and survival (no death/permanent ventilation) at 14 months. Secondary outcomes include ability to thrive and ventilatory support at 18 months. Exploratory outcomes include CHOP-INTEND and Bayley-III.ResultsEnrollment is complete (22 patients dosed). Mean age at symptom onset, genetic diagnosis, and enrollment was 1.9 (0–4.0), 2.1 (0.5–4.0), and 3.7 (0.5–5.9) months. At baseline, no patient required ventilatory/nutritional support. Mean baseline CHOP-INTEND: 32.6 (17.0–52.0) points; increased by 6.9 (-4.0–16.0), 9.2 (0–18.0), and 11.7 (-3.0–23.0) points at 1, 2, and 3 months; independent sitting: 11/22 patients; survival at 13.6 months: 13/15 (87%) (8 March 2019 datacut).ConclusionsPreliminary data from the AVXS-101 phase 3 study show rapid motor function improvements in SMA1 patients, paralleling phase 1 findings.

Published
2019
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