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1. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M, Montes, Jaqueline, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2024
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2. Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Albamonte, Emilio, Montes, Jacqueline, Glanzman, Allan M, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, D'Amico, Adele, Catteruccia, Michela, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Salmin, Francesca, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard S., and Mercuri, Eugenio

Published
2024
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3. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Volpe, Joseph J, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Gerber, Marianne, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Joniau, Inge, Accou, Geraldine, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Fornazieri Darcie, Ana Letícia, Machado, Cleide, Kiyoko Oyamada, Maria, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Hu, Chaoping, Zhu, Xiaomei, Qian, Chen, Shen, Li, Li, Hui, Shi, Yiyun, Zhou, Shuizhen, Xiao, Ying, Zhou, Zhenxuan, Wang, Sujuan, Sang, Tian, Wei, Cuijie, Dong, Hui, Cao, Yiwen, Wen, Jing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Tomas, Josipa, Boespflug-Tanguy, Odile, De Lucia, Silvana, Seferian, Andrea, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Grange, Allison, Trang Nguyen, Diem, Milascevic, Darko, Tachibana, Shotaro, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pedemonte, Marina, Priolo, Enrico, Sposetti, Lorenza, Comi, Giacomo Pietro, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Leone, Daniela, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Takeshima, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Gomi, Fumi, Morimatsu, Takanobu, Furukawa, Toru, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Artemyeva, Svetlana, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Litvinova, Elena, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Sari, Seher, Bilgin, Neslihan, Karaduman, Aynur Ayse, Sarikaya, Fatma Gokcem Yildiz, Graham, Robert J, Ghosh, Partha, Casavant, David, Levine, Alexis, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Baglieri, Anna Maria, Dias, Courtney, Maczek, Elizabeth, Pasternak, Amy, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Published
2022
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4. Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy

Author

Mayhew, Anna G, Moat, Dionne, McDermott, Michael P., Eagle, Michelle, Griggs, Robert C., King, Wendy M., James, Meredith K., Muni-Lofra, Robert, Shillington, Alison, Gregson, Sarah, Pallant, Lindsey, Skura, Christy, Staudt, Loretta A., Eichinger, Katy, McMurchie, Heather, Rabb, Rosanna, Di Marco, Marina, Brown, Sarah, Zanin, Riccardo, Arnoldi, Maria Teresa, McIntyre, Melissa, Wilson, Amelia, Alfano, Lindsay N., Lowes, Linda P., Blomgren, Colleen, Milev, Evelin, Iodice, Mario, Pasternak, Amy, Chiu, Angela, Lehnert, Ilka, Claus, Nicole, Dieruf, Kathy A., Rolle, Enrica, Nicorici, Alina, Andres, Barbara, Hobbiebrunken, Elke, Roetmann, Gerda, Kern, Victoria, Civitello, Matthew, Vogt, Sibylle, Hayes, Melissa J., Scholtes, Cheryl, Lacroix, Catherine, Gunn, Tara, Warner, Sinead, Newman, Jennifer, Barp, Andrea, Kundrat, Katherine, Kovelman, Staci, Powers, Penny J., and Guglieri, Michela

Published
2022
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5. Best–worst scaling methodology to evaluate constructs of the Consolidated Framework for Implementation Research: application to the implementation of pharmacogenetic testing for antidepressant therapy

Author

Salloum, Ramzi G., Bishop, Jeffrey R., Elchynski, Amanda L., Smith, D. Max, Rowe, Elizabeth, Blake, Kathryn V., Limdi, Nita A., Aquilante, Christina L., Bates, Jill, Beitelshees, Amber L., Cipriani, Amber, Duong, Benjamin Q., Empey, Philip E., Formea, Christine M., Hicks, J. Kevin, Mroz, Pawel, Oslin, David, Pasternak, Amy L., Petry, Natasha, Ramsey, Laura B., Schlichte, Allyson, Swain, Sandra M., Ward, Kristen M., Wiisanen, Kristin, Skaar, Todd C., Van Driest, Sara L., Cavallari, Larisa H., and Tuteja, Sony

Published
2022
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7. Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Author

Coratti, Giorgia, Carmela Pera, Maria, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, de Sanctis, Roberto, Stacy Mazzone, Elena, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico, Day, John, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S, and Mercuri, Eugenio

Published
2022
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8. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

McGrattan, Katlyn, primary, Cerchiari, Antonella, additional, Conway, Eleanor, additional, Berti, Beatrice, additional, Finkel, Richard, additional, Muntoni, Francesco, additional, Mercuri, Eugenio, additional, Fanelli, Lavinia, additional, Coratti, Giorgia, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Trucco, Federica, additional, Latini, Sofia, additional, Bertini, Enrico, additional, d'Amico, Adele, additional, Doglio, Luca, additional, Stimpson, Georgia, additional, Baranello, Giovanni, additional, Scoto, Mariacristina, additional, Rohwer, Annemarie, additional, Edel, Lisa, additional, Lofra, Robert Muni, additional, Bettolo, Chiara Marini, additional, Young, Sally Dunaway, additional, Day, John, additional, Duong, Tina, additional, Darras, Basil, additional, Pasternak, Amy, additional, Montes, Jacqueline, additional, Rodriguez-Torres, Ralph, additional, Chiriboga, Claudia A., additional, Hirano, Michio, additional, Civitello, Matthew, additional, Cunningham, Zarazuela Zolkipli, additional, Brandsema, John, additional, Mayer, Hank, additional, Glanzmann, Allan, additional, Karagiannis, Joannis, additional, Baldinetti, Francesca, additional, Khader, Leila, additional, Costa, Patrizia, additional, Lovato, Valeria, additional, and Rastelletti, Irene, additional

Published
2024
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9. Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility

Author

Harding, Elizabeth R., primary, Kanner, Cara H., additional, Pasternak, Amy, additional, Glanzman, Allan M., additional, Dunaway Young, Sally, additional, Rao, Ashwini K., additional, McDermott, Michael P., additional, Zolkipli-Cunningham, Zarazuela, additional, Day, John W., additional, Finkel, Richard S., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, and Montes, Jacqueline, additional

Published
2024
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11. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

Author

Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2021
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12. Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.

Author

Crawford, Thomas O., Day, John W., De Vivo, Darryl C., Krueger, Jena M., Mercuri, Eugenio, Nascimento, Andres, Pasternak, Amy, Mazzone, Elena Stacy, Duong, Tina, Guochen Song, Marantz, Jing L., Baver, Scott, Dongzi Yu, Lan Liu, and Darras, Basil T.

Subjects
SPINAL muscular atrophy, COMPUTER adaptive testing, RESPIRATORY infections, COVID-19, FATIGUE (Physiology)
Abstract

Background and purpose: At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal muscular atrophy (SMA) and with a favorable safety profile. This manuscript reports the extended efficacy and safety in the nonambulatory group of the TOPAZ study at 36 months. Methods: Patients who completed the primary study (NCT03921528) could enroll in an open-label extension, during which patients received apitegromab 20 mg/kg by intravenous infusion every 4 weeks. Patients were assessed periodically via the Hammersmith Functional Motor Scale-Expanded (HFMSE), Revised Upper Limb Module (RULM), World Health Organization (WHO) motor development milestones, Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) Daily Activities and Mobility domains, and Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue questionnaire. Results: Of the 58 patients enrolled in TOPAZ, 35 were nonambulatory (mean age 7.3 years). The mean change at 36 months in HFMSE score from baseline was +4.0 (standard deviation [SD]: 7.54), and + 2.4 (3.24) for RULM score (excluding n = 7 after scoliosis surgery). Caregiver-reported outcomes (PEDI-CAT and PROMIS Fatigue) showed improvements from baseline over 36 months. In addition, most patients (28/32) improved or maintained WHO motor milestones achieved at baseline. The most frequently reported treatment-emergent adverse events were pyrexia (48.6%), nasopharyngitis (45.7%), COVID-19 infection (40.0%), vomiting (40.0%), and upper respiratory tract infection (31.4%). Conclusion: The benefit of apitegromab treatment observed at 12 months was sustained at 36 months with no new safety findings. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Author

Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, and Sframeli, Maria

Subjects
SPINAL muscular atrophy, NEUROMUSCULAR diseases, RECEIVER operating characteristic curves, MEASUREMENT errors
Abstract

Background and purpose: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort. Methods: The study employed two distinct methods. MDC was calculated using distribution‐based approaches to consider standard error of measurement and effect size change in a population of 321 patients (176 SMA II and 145 SMA III), allowing for stratification based on age and function. MCID was assessed using anchor‐based methods (receiver operating characteristic [ROC] curve analysis and standard error) on 76 patients (52 SMA II and 24 SMA III) for whom the 12‐month HFMSE could be anchored to a caregiver‐reported clinical perception questionnaire. Results: With both approaches, SMA type II and type III patients had different profiles. The MCID, using ROC analysis, identified optimal cutoff points of −2 for type II and −4 for type III patients, whereas using the standard error we found the optimal cutoff points to be 1.5 for improvement and −3.2 for deterioration. Furthermore, distribution‐based methods uncovered varying values across age and functional status subgroups within each SMA type. Conclusions: These results emphasize that the interpretation of a single MCID or MDC value obtained in large cohorts with different functional status needs to be made with caution, especially when these may be used to assess possible responses to new therapies. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.

Author

Connolly, Anne, Malkus, Elizabeth, Mendell, Jerry, Flanigan, Kevin, Miller, J, Schierbecker, Jeanine, Siener, Catherine, Golumbek, Paul, Zaidman, Craig, Johnson, Linda, Nicorici, Alina, Karachunski, Peter, Day, John, Kelecic, Jason, Lowes, Linda, Alfano, Lindsay, Darras, Basil, Kang, Peter, Quigley, Janet, Pasternak, Amy, Florence, Julaine, and McDonald, Craig

Subjects
Duchenne muscular dystrophy, corticosteroids, non-ambulatory, pulmonary function, quality of life, strength, Adolescent, Adrenal Cortex Hormones, Adult, Child, Disability Evaluation, Hand, Humans, Male, Muscular Dystrophy, Duchenne, Reproducibility of Results, Treatment Outcome, Young Adult
Abstract

INTRODUCTION: Therapeutic trials in Duchenne muscular dystrophy (DMD) often exclude non-ambulatory individuals. Here we establish optimal and reliable assessments in a multicenter trial. METHODS: Non-ambulatory boys/men with DMD (N = 91; 16.7 ± 4.5 years of age) were assessed by trained clinical evaluators. Feasibility (percentage completing task) and reliability [intraclass correlation coefficients (ICCs) between morning and afternoon tests] were measured. RESULTS: Forced vital capacity (FVC), assessed in all subjects, showed a mean of 47.8 ± 22% predicted (ICC 0.98). Brooke Upper Extremity Functional Rating (Brooke) and Egen Klassifikation (EK) scales in 100% of subjects showed ICCs ranging from 0.93 to 0.99. Manual muscle testing, range of motion, 9-hole peg test, and Jebsen-Taylor Hand Function Test (JHFT) demonstrated varied feasibility (99% to 70%), with ICCs ranging from 0.99 to 0.64. We found beneficial effects of different forms of corticosteroids for the Brooke scale, percent predicted FVC, and hand and finger strength. CONCLUSIONS: Reliable assessment of non-ambulatory boys/men with DMD is possible. Clinical trials will have to consider corticosteroid use.

Published
2015

17. Risk of Toxicity From Topical 5‐Fluorouracil Treatment in Patients Carrying DPYD Variant Alleles.

Author

Granados, Javier, Pasternak, Amy L., Henry, N. Lynn, Sahai, Vaibhav, and Hertz, Daniel L.

Subjects
CANCER chemotherapy, ALLELES, DATA libraries, FLUOROURACIL, ELECTRONIC health records
Abstract

Patients carrying DPYD variant alleles have increased risk of severe toxicity from systemic fluoropyrimidine chemotherapy. There is a paucity of data regarding risk of toxicity from topical 5‐fluorouracil (5‐FU) treatment in these patients, leading to inconsistent guideline recommendations for pretreatment testing and topical 5‐FU dosing. The objective of this retrospective cohort study was to investigate whether DPYD variant allele carriers have increased risk of toxicity from topical 5‐FU. Treatment and toxicity data were retrospectively abstracted from the electronic medical records. Genotypes for the five DPYD variants that are associated with increased toxicity from systemic fluoropyrimidine chemotherapy (DPYD*2A, DPYD*13, DPYD p.D949V, DPYD HapB3, and DPYD p.Y186C) were collected from a genetic data repository. Incidence of grade 3+ (primary end point) and 1+ (secondary end point) toxicity was compared between DPYD variant carriers vs. wild‐type patients using Fisher's exact tests. The analysis included 201 patients, 7% (14/201) of whom carried a single DPYD variant allele. No patients carried two variant alleles or experienced grade 3+ toxicity. DPYD variant allele carriers did not have a significantly higher risk of grade 1+ toxicity (21.4% vs. 10.2%, odds ratio = 2.40, 95% confidence interval: 0.10–2.53, P = 0.19). Given the low toxicity risk in patients carrying a single DPYD variant allele, there is limited potential clinical benefit of DPYD genetic testing prior to topical 5‐FU. However, the risk of severe toxicity in patients with complete DPD deficiency remains unknown and topical 5‐FU treatment should be avoided in these patients. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Nusinersen Treatment in Adults with Spinal Muscular Atrophy

Author

Duong, Tina, Wolford, Connie, McDermott, Michael P., Macpherson, Chelsea E., Pasternak, Amy, Glanzman, Allan M., Martens, William B., Kichula, Elizabeth, Darras, Basil T., De Vivo, Darryl C., Zolkipli-Cunningham, Zarazuela, Finkel, Richard S., Zeineh, Michael, Wintermark, Max, Sampson, Jacinda, Hagerman, Katharine A., Young, Sally Dunaway, and Day, John W.

Published
2021
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19. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author

Young, Sally Dunaway, Mcgrattan, Katlyn, Johnson, Emily, van der Heul, Marise, Duong, Tina, Bakke, Merete, Werlauff, Ulla, Pasternak, Amy, Cattaneo, Camilla, Hoffman, Katie, Fanelli, Lavinia, Breaks, Anne, Allison, Kristen, Baranello, Giovanni, Finkel, Richard, Coratti, Giorgia, and Lofra, Robert Muni

Subjects
SPINAL MUSCULAR ATROPHY, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Neurology, Neurology (clinical)
Abstract

Background: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits in SMA impedes the ability to monitor function, facilitate intervention, or detect treatment response. Objective: To fill this void, an international multidisciplinary team gathered to develop an agreed upon consensus-derived assessment of bulbar function in SMA for inter-professional administration to enhance our ability to monitor disease progression, support clinical management, and evaluate treatment effects. Methods: Fifty-six international clinicians experienced in SMA were invited and engaged using the Delphi method over multiple rounds of web-based surveys to establish consensus. Results: Serial virtual meetings occurred with 42 clinicians (21 speech and language therapists, 11 physical therapists, 5 neurologists, 4 occupational therapists, and 1 dentist). Seventy-two validated assessments of bulbar function were identified for potential relevance to individuals with SMA (32 accessible objective, 11 inaccessible objective, 29 patient-reported outcomes). Delphi survey rounds (n = 11, 15, 15) achieved consensus on individual items with relevance and wording discussed. Key aspects of bulbar function identified included: oral intake status, oral facial structure and motor strength, swallowing physiology, voice & speech, and fatigability. Conclusions: Multidisciplinary clinicians with expertise in bulbar function and SMA used Delphi methodology to reach consensus on assessments/items considered relevant for SMA across all age groups. Future steps include piloting the new scale moving towards validation/reliability. This work supports the advancement of assessing bulbar function in children and adults with SMA by a variety of professionals.

Published
2023

21. Development of an International SMA Bulbar Assessment for Inter-professional Administration

Author

Dunaway Young, Sally, primary, McGrattan, Katlyn, additional, Johnson, Emily, additional, van der Heul, Marise, additional, Duong, Tina, additional, Bakke, Merete, additional, Werlauff, Ulla, additional, Pasternak, Amy, additional, Cattaneo, Camilla, additional, Hoffman, Katie, additional, Fanelli, Lavinia, additional, Breaks, Anne, additional, Allison, Kristen, additional, Baranello, Giovanni, additional, Finkel, Richard, additional, Coratti, Giorgia, additional, and Lofra, Robert Muni, additional

Published
2023
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22. Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

Author

Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O’Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A., D’Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena, Main, Marion, Montes, Jacqueline, Glanzman, Allan M., Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Marini-Bettolo, Chiara, Day, John W., Darras, Basil T., De Vivo, Darryl C., Baranello, Giovanni, Scoto, Mariacristina, Finkel, Richard S., Mercuri, Eugenio, and Muntoni, Francesco

Abstract

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).Objective: In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).Methods: We contextualise these trajectories using both the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). At baseline, this cohort included 50% females and 15% of patients had undergone spinal fusion surgery. Patient trajectories were modelled using a natural cubic spline with age, sex, and random effects for each patient.Results: RHS and HFMSE scores show similar trends over time in this cohort not receiving disease modifying therapies. The results confirm the strong correlation between the RHS and RULM previously observed in SMA types 2 and 3a. Scoliosis surgery is associated with a reduction of 3 points in the RHS, 4.5 points in the HFMSE for the SMA 2 population, and a reduction of 11.8 points in the RHS, and 13.4 points in the HFMSE for the SMA 3a populations. When comparing the RHS and RULM, there is a lower correlation in the type 3a’s than the type 2 patients. In the SMA 2 population, there is no significant difference between the sexes in either the RHS or HFMSE trajectories. There is no significant difference in the RULM trajectory in the SMA 2 or 3a participants by sex.Conclusions: This study demonstrates that the RHS could be used in conjunction with other functional measures such as the RULM to holistically detect SMA disease progression. This will assist with fully understanding changes that occur with treatments, further defining trajectories and therapy outcomes.

Published
2024
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25. Confirmatory DPYD Testing in Patients Receiving Fluoropyrimidines who are SuspectedDPYDVariant Carriers Based on a Genetic Data Repository

Author

Pasternak, Amy L, primary, Seda, Robinson, additional, Lipa, Joseph, additional, McDevitt, Rachel L., additional, Crysler, Oxana V, additional, Swiecicki, Paul L, additional, Schneider, Bryan J, additional, Vanderwerff, Brett, additional, Henry, N. Lynn, additional, Krauss, John C, additional, Sahai, Vaibhav, additional, and Hertz, Daniel L, additional

Published
2023
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26. Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

Author

Dunaway Young, Sally, primary, Pasternak, Amy, additional, Duong, Tina, additional, McGrattan, Katlyn E., additional, Stranberg, Sarah, additional, Maczek, Elizabeth, additional, Dias, Courtney, additional, Tang, Whitney, additional, Parker, Dana, additional, Levine, Alexis, additional, Rohan, Alyssa, additional, Wolford, Connie, additional, Martens, William, additional, McDermott, Michael P., additional, Darras, Basil T., additional, and Day, John W., additional

Published
2023
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28. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author

Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Stimpson, Georgia, Ramsey, Danielle, Wolfe, Amy, Mayhew, Anna, Scoto, Mariacristina, Baranello, Giovanni, Muni Lofra, Robert, Main, Marion, Milev, Evelin, Coratti, Giorgia, Pane, Marika, Sansone, Valeria, D'Amico, Adele, Bertini, Enrico Silvio, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena Stacy, Montes, Jacqueline, Glanzman, Allan M, Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard S, Mercuri, Eugenio Maria, Muntoni, Francesco, Coratti, Giorgia (ORCID:0000-0001-6666-5628), Pane, Marika (ORCID:0000-0002-4851-6124), Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in the RHS score up to two years in paediatric SMA 2 and 3 participants and contextualise it to the Hammersmith Functional Motor Scale-Expanded (HFMSE). These change scores were considered by SMA type, motor function, and baseline RHS score. We consider a new transitional group, spanning crawlers, standers, and walkers-with-assistance, and analyse that alongside non-sitters, sitters, and walkers. The transitional group exhibit the most definitive change score trend, with an average 1-year decline of 3 points. In the weakest patients, we are most able to detect positive change in the RHS in the under-5 age group, whereas in the stronger patients, we are most able to detect decline in the RHS in the 8-13 age group. The RHS has a reduced floor effect compared to the HFMSE, although we show that the RHS should be used in conjunction with the RULM for participants scoring less than 20 points on the RHS. The timed items in the RHS have high between-participant variability, so participants with the same RHS total can be differentiated by their timed test items.

Published
2023

29. Developmental milestones in type I spinal muscular atrophy

Author

De Sanctis, Roberto, Coratti, Giorgia, Pasternak, Amy, Montes, Jacqueline, Pane, Marika, Mazzone, Elena S., Young, Sally Dunaway, Salazar, Rachel, Quigley, Janet, Pera, Maria C., Antonaci, Laura, Lapenta, Leonardo, Glanzman, Allan M., Tiziano, Danilo, Muntoni, Francesco, Darras, Basil T., De Vivo, Darryl C., Finkel, Richard, and Mercuri, Eugenio

Published
2016
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30. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Author

Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S., Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M., Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, van den Hauwe, Marleen, Sivo, Serena, Goemans, Nathalie, Kaufmann, Petra, Darras, Basil T., Bertini, Enrico, Muntoni, Francesco, and De Vivo, Darryl C.

Published
2016
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31. 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author

Stimpson, Georgia, primary, Ramsey, Danielle, additional, Wolfe, Amy, additional, Mayhew, Anna, additional, Scoto, Mariacristina, additional, Baranello, Giovanni, additional, Muni Lofra, Robert, additional, Main, Marion, additional, Milev, Evelin, additional, Coratti, Giorgia, additional, Pane, Marika, additional, Sansone, Valeria, additional, D’Amico, Adele, additional, Bertini, Enrico, additional, Messina, Sonia, additional, Bruno, Claudio, additional, Albamonte, Emilio, additional, Mazzone, Elena Stacy, additional, Montes, Jacqueline, additional, Glanzman, Allan M., additional, Zolkipli-Cunningham, Zarazuela, additional, Pasternak, Amy, additional, Duong, Tina, additional, Dunaway Young, Sally, additional, Civitello, Matthew, additional, Marini-Bettolo, Chiara, additional, Day, John W., additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, Finkel, Richard S., additional, Mercuri, Eugenio, additional, and Muntoni, Francesco, additional

Published
2023
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34. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Masson, Riccardo, primary, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Servais, Laurent, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Baranello, Giovanni, additional, Bruno, Claudio, additional, Day, John W, additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Mercuri, Eugenio, additional, Vlodavets, Dmitry, additional, Wang, Yi, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, Kletzl, Heidemarie, additional, Gaki, Eleni, additional, Fontoura, Paulo, additional, Darras, Basil T, additional, Volpe, Joseph J, additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Gerber, Marianne, additional, Khwaja, Omar, additional, Scalco, Renata S, additional, Seabrook, Timothy, additional, Koch, Armin, additional, Balikova, Irina, additional, Joniau, Inge, additional, Accou, Geraldine, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, de Holanda Mendonça, Rodrigo, additional, Matsui Jr, Ciro, additional, Fornazieri Darcie, Ana Letícia, additional, Machado, Cleide, additional, Kiyoko Oyamada, Maria, additional, Martini, Joyce, additional, Polido, Graziela, additional, Rodrigues Iannicelli, Juliana, additional, Caires de Oliveira Achili Ferreira, Juliana, additional, Hu, Chaoping, additional, Zhu, Xiaomei, additional, Qian, Chen, additional, Shen, Li, additional, Li, Hui, additional, Shi, Yiyun, additional, Zhou, Shuizhen, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Wang, Sujuan, additional, Sang, Tian, additional, Wei, Cuijie, additional, Dong, Hui, additional, Cao, Yiwen, additional, Wen, Jing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Celovec, Ivan, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Tomas, Josipa, additional, Boespflug-Tanguy, Odile, additional, De Lucia, Silvana, additional, Seferian, Andrea, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Peche, Helene, additional, Grange, Allison, additional, Trang Nguyen, Diem, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Pagliano, Emanuela, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Dosi, Claudia, additional, Zanin, Riccardo, additional, Schembri, Veronica, additional, Brolatti, Noemi, additional, Rao, Giuseppe, additional, Tassara, Elisa, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Pedemonte, Marina, additional, Priolo, Enrico, additional, Sposetti, Lorenza, additional, Comi, Giacomo Pietro, additional, Govoni, Alessandra, additional, Osnaghi, Silvia Gabriella, additional, Minorini, Valeria, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amalia, additional, Pane, Marika, additional, Palermo, Concetta, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Guglielmo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Leone, Daniela, additional, Laura, Antonaci, additional, De Sanctis, Roberto, additional, Berti, Beatrice, additional, Kimura, Naoki, additional, Takeshima, Yasuhiro, additional, Shimomura, Hideki, additional, Lee, Tomoko, additional, Gomi, Fumi, additional, Morimatsu, Takanobu, additional, Furukawa, Toru, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Modrzejewska, Sandra, additional, Lemska, Anna, additional, Melnik, Evgenia, additional, Artemyeva, Svetlana, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Litvinova, Elena, additional, Enzmann, Cornelia, additional, Galiart, Elea, additional, Gugleta, Konstantin, additional, Wondrusch Haschke, Christine, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Ertugrul, Nesibe Eroglu, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Sari, Seher, additional, Bilgin, Neslihan, additional, Karaduman, Aynur Ayse, additional, Sarikaya, Fatma Gokcem Yildiz, additional, Graham, Robert J, additional, Ghosh, Partha, additional, Casavant, David, additional, Levine, Alexis, additional, Titus, Rachael, additional, Engelbrekt, Amanda, additional, Ambrosio, Lucia, additional, Fulton, Anne, additional, Baglieri, Anna Maria, additional, Dias, Courtney, additional, Maczek, Elizabeth, additional, Pasternak, Amy, additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, and Young, Sally, additional

Published
2022
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35. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

Author

Salazar, Rachel, Montes, Jacqueline, Dunaway Young, Sally, McDermott, Michael P., Martens, William, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Glanzman, Allan M., Civitello, Matt, Gee, Richard, Duong, Tina, Mazzone, Elena S., Main, Marion, Mayhew, Anna, Ramsey, Danielle, Muni Lofra, Robert, Coratti, Giorgia, Fanelli, Lavinia, De Sanctis, Roberto, Forcina, Nicola, Chiriboga, Claudia, Darras, Basil T., Tennekoon, Gihan I., Scoto, Mariacristina, Day, John W., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, and De Vivo, Darryl C.

Published
2018
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36. Confirmatory DPYD Testing in Patients Receiving Fluoropyrimidines Who are Suspected DPYD Variant Carriers Based on a Genetic Data Repository.

Author

Pasternak, Amy L., Seda, Robinson, Lipa, Joseph, McDevitt, Rachel L., Crysler, Oxana V., Swiecicki, Paul L., Schneider, Bryan J., Vanderwerff, Brett, Henry, N. Lynn, Krauss, John C., Sahai, Vaibhav, and Hertz, Daniel L.

Subjects
DATA libraries, GENETIC carriers, FLUOROPYRIMIDINES, GENETIC testing, DECISION making
Abstract

Using pharmacogenetics (PGx) to inform clinical decision making can benefit patients but clinical use of PGx testing has been limited. Existing genetics data obtained in the course of research could be used to identify patients who are suspected, but have not yet been confirmed, to carry clinically actionable genotypes, in whom confirmatory genetic testing could be conducted for highly efficient PGx implementation. Herein, we demonstrate that it is regulatorily and technically feasible to implement PGx by identifying suspected carriers of actionable genotypes within an institutional genetics data repository and conduct confirmatory PGx testing immediately prior to that patient receiving the PGx‐relevant drug, using a case study of DPYD testing prior to fluoropyrimidine chemotherapy. In 2 years since launching this program, ~ 3,000 suspected DPYD carriers have been passively monitored and one confirmed DPYD carrier was prevented from receiving unacceptably toxic fluoropyrimidine treatment, for minimal cost and effort. Now that we have demonstrated the feasibility of this strategy, we plan to transition to PGx panel testing and expand implementation to other genes and drugs for which the evidence of clinical benefit of PGx‐informed treatment is high but PGx testing is not generally conducted. This highly efficient implementation process will maximize the clinical benefits of testing and could be explored at other institutions that have research‐only genetic data repositories to expand the number of patients who benefit from PGx‐informed treatment while we continue to work toward wide‐scale adoption of PGx testing and implementation. [ABSTRACT FROM AUTHOR]

Published
2023
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38. Additional file 2 of Best–worst scaling methodology to evaluate constructs of the Consolidated Framework for Implementation Research: application to the implementation of pharmacogenetic testing for antidepressant therapy

Author

Salloum, Ramzi G., Bishop, Jeffrey R., Elchynski, Amanda L., Smith, D. Max, Rowe, Elizabeth, Blake, Kathryn V., Limdi, Nita A., Aquilante, Christina L., Bates, Jill, Beitelshees, Amber L., Cipriani, Amber, Duong, Benjamin Q., Empey, Philip E., Formea, Christine M., Hicks, J. Kevin, Mroz, Pawel, Oslin, David, Pasternak, Amy L., Petry, Natasha, Ramsey, Laura B., Schlichte, Allyson, Swain, Sandra M., Ward, Kristen M., Wiisanen, Kristin, Skaar, Todd C., Van Driest, Sara L., Cavallari, Larisa H., and Tuteja, Sony

Abstract

Additional file 2. STROBE statement.

Published
2022
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39. Additional file 1 of Best–worst scaling methodology to evaluate constructs of the Consolidated Framework for Implementation Research: application to the implementation of pharmacogenetic testing for antidepressant therapy

Author

Salloum, Ramzi G., Bishop, Jeffrey R., Elchynski, Amanda L., Smith, D. Max, Rowe, Elizabeth, Blake, Kathryn V., Limdi, Nita A., Aquilante, Christina L., Bates, Jill, Beitelshees, Amber L., Cipriani, Amber, Duong, Benjamin Q., Empey, Philip E., Formea, Christine M., Hicks, J. Kevin, Mroz, Pawel, Oslin, David, Pasternak, Amy L., Petry, Natasha, Ramsey, Laura B., Schlichte, Allyson, Swain, Sandra M., Ward, Kristen M., Wiisanen, Kristin, Skaar, Todd C., Van Driest, Sara L., Cavallari, Larisa H., and Tuteja, Sony

Abstract

Additional file 1. Electronic survey.

Published
2022
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40. Additional file 3 of Best–worst scaling methodology to evaluate constructs of the Consolidated Framework for Implementation Research: application to the implementation of pharmacogenetic testing for antidepressant therapy

Author

Salloum, Ramzi G., Bishop, Jeffrey R., Elchynski, Amanda L., Smith, D. Max, Rowe, Elizabeth, Blake, Kathryn V., Limdi, Nita A., Aquilante, Christina L., Bates, Jill, Beitelshees, Amber L., Cipriani, Amber, Duong, Benjamin Q., Empey, Philip E., Formea, Christine M., Hicks, J. Kevin, Mroz, Pawel, Oslin, David, Pasternak, Amy L., Petry, Natasha, Ramsey, Laura B., Schlichte, Allyson, Swain, Sandra M., Ward, Kristen M., Wiisanen, Kristin, Skaar, Todd C., Van Driest, Sara L., Cavallari, Larisa H., and Tuteja, Sony

Abstract

Additional file 3. Characteristics of sites that had implemented or were planning to implement pharmacogenetic testing to guide antidepressant therapy.

Published
2022
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41. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

Fanelli, Lavinia, Coratti, Giorgia, Sansone, Valeria, Albamonte, Emilio, Trucco, Federica, Latini, Sofia, Bertini, Enrico, d'Amico, Adele, Doglio, Luca, Stimpson, Georgia, Baranello, Giovanni, Scoto, Mariacristina, Rohwer, Annemarie, Edel, Lisa, Lofra, Robert Muni, Bettolo, Chiara Marini, Young, Sally Dunaway, Day, John, Duong, Tina, Darras, Basil, Pasternak, Amy, Montes, Jacqueline, Rodriguez-Torres, Ralph, Chiriboga, Claudia A., Hirano, Michio, Civitello, Matthew, Cunningham, Zarazuela Zolkipli, Brandsema, John, Mayer, Hank, Glanzmann, Allan, Karagiannis, Joannis, Baldinetti, Francesca, Khader, Leila, Costa, Patrizia, Lovato, Valeria, Rastelletti, Irene, McGrattan, Katlyn, Cerchiari, Antonella, Conway, Eleanor, Berti, Beatrice, Finkel, Richard, Muntoni, Francesco, and Mercuri, Eugenio

Published
2024
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42. Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic testing

Author

Duarte, Julio D., primary, Dalton, Rachel, additional, Elchynski, Amanda L., additional, Smith, D. Max, additional, Cicali, Emily J., additional, Lee, James C., additional, Duong, Benjamin Q., additional, Petry, Natasha J., additional, Aquilante, Christina L., additional, Beitelshees, Amber L., additional, Empey, Philip E., additional, Johnson, Julie A., additional, Obeng, Aniwaa Owusu, additional, Pasternak, Amy L., additional, Pratt, Victoria M., additional, Ramsey, Laura B., additional, Tuteja, Sony, additional, Van Driest, Sara L., additional, Wiisanen, Kristin, additional, Hicks, J. Kevin, additional, and Cavallari, Larisa H., additional

Published
2021
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43. Identifying the prevalence of clinically actionable drug‐gene interactions in a health system biorepository to guide pharmacogenetics implementation services.

Author

Pasternak, Amy L., Ward, Kristen, Irwin, Madison, Okerberg, Carl, Hayes, David, Fritsche, Lars, Zoellner, Sebastian, Virzi, Jessica, Choe, Hae Mi, and Ellingrod, Vicki

Subjects
*ELECTRONIC health records, *PROTON pump inhibitors, *DRUG prescribing, *DRUG monitoring, *DRUG therapy
Abstract

Understanding patterns of drug‐gene interactions (DGIs) is important for advancing the clinical implementation of pharmacogenetics (PGx) into routine practice. Prior studies have estimated the prevalence of DGIs, but few have confirmed DGIs in patients with known genotypes and prescriptions, nor have they evaluated clinician characteristics associated with DGI‐prescribing. This retrospective chart review assessed prevalence of DGI, defined as a medication prescription in a patient with a PGx phenotype that has a clinical practice guideline recommendation to adjust therapy or monitor drug response, for patients enrolled in a research genetic biorepository linked to electronic health records (EHRs). The prevalence of prescriptions for medications with pharmacogenetic (PGx) guidelines, proportion of prescriptions with DGI, location of DGI prescription, and clinical service of the prescriber were evaluated descriptively. Seventy‐five percent (57,058/75,337) of patients had a prescription for a medication with a PGx guideline. Up to 60% (n = 26,067/43,647) of patients had at least one DGI when considering recommendations to adjust or monitor therapy based on genotype. The majority (61%) of DGIs occurred in outpatient prescriptions. Proton pump inhibitors were the most common DGI medication for 11 of 12 clinical services. Almost 25% of patients (n = 10,706/43,647) had more than one unique DGI, and, among this group of patients, 61% had a DGI with more than one gene. These findings can inform future clinical implementation by identifying key stakeholders for initial DGI prescriptions, helping to inform workflows. The high prevalence of multigene interactions identified also support the use of panel PGx testing as an implementation strategy. [ABSTRACT FROM AUTHOR]

Published
2023
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46. Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy

Author

Fragala-Pinkham, Maria, primary, Pasternak, Amy, additional, McDermott, Michael P., additional, Mirek, Elizabeth, additional, Glanzman, Allan M., additional, Montes, Jacqueline, additional, Dunaway Young, Sally, additional, Salazar, Rachel, additional, Quigley, Janet, additional, Riley, Susan O., additional, Chiriboga, Claudia A., additional, Finkel, Richard S., additional, Tennekoon, Gihan, additional, Martens, William B., additional, De Vivo, Darryl C., additional, and Darras, Basil T., additional

Published
2021
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47. OLD MEASURES AND NEW SCORES IN SPINAL MUSCULAR ATROPHY PATIENTS

Author

MAZZONE, ELENA, MONTES, JACQUELINE, MAIN, MARION, MAYHEW, ANNA, RAMSEY, DANIELLE, GLANZMAN, ALLAN M., DUNAWAY, SALLY, SALAZAR, RACHEL, PASTERNAK, AMY, QUIGLEY, JANET, PANE, MARIKA, PERA, MARIA C., SCOTO, MARIACRISTINA, MESSINA, SONIA, SFRAMELI, MARIA, DʼAMICO, ADELE, VAN DEN HAUWE, MARLEEN, SIVO, SERENA, GOEMANS, NATHALIE, DARRAS, BASIL T., KAUFMANN, PETRA, BERTINI, ENRICO, DE VIVO, DARRYL C., MUNTONI, FRANCESCO, FINKEL, RICHARD, and MERCURI, EUGENIO

Published
2015
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50. Different trajectories in upper limb and gross motor function in spinal muscular atrophy

Author

Coratti, Giorgia, primary, Pera, Maria Carmela, additional, Montes, Jacqueline, additional, Pasternak, Amy, additional, Scoto, Mariacristina, additional, Baranello, Giovanni, additional, Messina, Sonia, additional, Dunaway Young, Sally, additional, Glanzman, Allan M., additional, Duong, Tina, additional, De Sanctis, Roberto, additional, Mazzone, Elena Stacy, additional, Milev, Evelin, additional, Rohwer, Annemarie, additional, Civitello, Matthew, additional, Pane, Marika, additional, Antonaci, Laura, additional, Frongia, Anna Lia, additional, Sframeli, Maria, additional, Vita, Gian Luca, additional, DʼAmico, Adele, additional, Mizzoni, Irene, additional, Albamonte, Emilio, additional, Darras, Basil T., additional, Bertini, Enrico, additional, Sansone, Valeria A., additional, Bovis, Francesca, additional, Day, John, additional, Bruno, Claudio, additional, Muntoni, Francesco, additional, De Vivo, Darryl C., additional, Finkel, Richard, additional, and Mercuri, Eugenio, additional

Published
2021
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