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1. Switching from inotersen to eplontersen in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: analysis from NEURO-TTRansform

Author

Conceição, Isabel, Berk, John L., Weiler, Markus, Kowacs, Pedro A., Dasgupta, Noel R., Khella, Sami, Chao, Chi-Chao, Attarian, Shahram, Kwoh, T. Jesse, Jung, Shiangtung W., Chen, Jersey, Viney, Nicholas J., Yu, Rosie Z., Gertz, Morie, Masri, Ahmad, Cruz, Márcia Waddington, and Coelho, Teresa

Published
2024
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3. Precision targeting of autoantigen-specific B cells in muscle-specific tyrosine kinase myasthenia gravis with chimeric autoantibody receptor T cells.

Author

Oh, Sangwook, Mao, Xuming, Manfredo-Vieira, Silvio, Lee, Jinmin, Patel, Darshil, Choi, Eun, Alvarado, Andrea, Cottman-Thomas, Ebony, Maseda, Damian, Tsao, Patricia, Ellebrecht, Christoph, Khella, Sami, OConnor, Kevin, Herzberg, Uri, Binder, Gwendolyn, Milone, Michael, Basu, Samik, Payne, Aimee, and Richman, David

Subjects
Humans, Mice, Animals, Receptors, Cholinergic, Autoantigens, Myasthenia Gravis, Autoimmune, Experimental, T-Lymphocytes, Autoantibodies, Immunoglobulin G, Protein-Tyrosine Kinases, Muscles
Abstract

Muscle-specific tyrosine kinase myasthenia gravis (MuSK MG) is an autoimmune disease that causes life-threatening muscle weakness due to anti-MuSK autoantibodies that disrupt neuromuscular junction signaling. To avoid chronic immunosuppression from current therapies, we engineered T cells to express a MuSK chimeric autoantibody receptor with CD137-CD3ζ signaling domains (MuSK-CAART) for precision targeting of B cells expressing anti-MuSK autoantibodies. MuSK-CAART demonstrated similar efficacy as anti-CD19 chimeric antigen receptor T cells for depletion of anti-MuSK B cells and retained cytolytic activity in the presence of soluble anti-MuSK antibodies. In an experimental autoimmune MG mouse model, MuSK-CAART reduced anti-MuSK IgG without decreasing B cells or total IgG levels, reflecting MuSK-specific B cell depletion. Specific off-target interactions of MuSK-CAART were not identified in vivo, in primary human cell screens or by high-throughput human membrane proteome array. These data contributed to an investigational new drug application and phase 1 clinical study design for MuSK-CAART for the treatment of MuSK autoantibody-positive MG.

Published
2023

4. Author Correction: Precision targeting of autoantigen-specific B cells in muscle-specific tyrosine kinase myasthenia gravis with chimeric autoantibody receptor T cells

Author

Oh, Sangwook, Mao, Xuming, Manfredo-Vieira, Silvio, Lee, Jinmin, Patel, Darshil, Choi, Eun Jung, Alvarado, Andrea, Cottman-Thomas, Ebony, Maseda, Damian, Tsao, Patricia Y., Ellebrecht, Christoph T., Khella, Sami L., Richman, David P., O’Connor, Kevin C., Herzberg, Uri, Binder, Gwendolyn K., Milone, Michael C., Basu, Samik, and Payne, Aimee S.

Published
2024
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5. Safety, tolerability, and efficacy of subcutaneous efgartigimod in patients with chronic inflammatory demyelinating polyradiculoneuropathy (ADHERE): a multicentre, randomised-withdrawal, double-blind, placebo-controlled, phase 2 trial

Author

Grinzinger, Susanne, Wanschitz, Julia, Seifert-Held, Thomas, Claeys, Kristl G., Baets, Jonathan, Remiche, Gauthier, Bissay, Véronique, Dubuisson, Nicolas, Delstanche, Stephanie, Tarnev, Ivaylo, Genov, Krasimir, Tsvetanov, Plamen, Milanov, Ivan, Zhao, Chongbo, Bu, Bitao, Yu, Xuefan, Li, Wei, Jiang, Haishan, Da, Yuwei, Lu, Zuneng, Liang, Hui, Guo, Fuqiang, Li, Zunbo, Zou, Zhangyu, Hong, Daojun, Yang, Huan, Guo, Junhong, Shi, Jianquan, Tu, Jianglong, He, Dian, Wang, Yiqi, Ding, Jing, Zhang, Yali, Zhao, Yuanqi, Xu, Renxi, Yue, Yunhua, Guo, Aihong, Wang, Yuzhong, Talab, Radomir, Harbo, Thomas, Sindrup, Soeren, De Seze, Jérôme, Sacconi, Sabrina, Péréon, Yann, Echaniz-Laguna, Andoni, Magy, Laurent, Nicolas, Guillaume, Taithe, Frédéric, Cassereau, Julien, Debs, Rabab, Shakarishvili, Roman, Tsiskaridze, Alexander, Mania, Maka, Janelidze, Marina, Janelidze, Tamar, Schroeter, Michael, Skripuletz, Thomas, Lee, De-Hyung, Klehmet, Juliane, Hotter, Benjamin, Hoffmann, Olaf, Baum, Petra, Zschuentzsch, Jana, Pitarokoili, Kalliopi, Stettner, Mark, Bereczki, Dániel, Pánczél, Gyula, Abraham, Alon, Dori, Amir, Lampl, Yair, Manganelli, Fiore, Morino, Stefania, Padovani, Alessandro, Siciliano, Gabriele, Schenone, Angelo, Magri, Francesca, Mazzeo, Anna, Giannini, Fabio, Sorbi, Sandro, Chiò, Adriano, Kuwahara, Motoi, Okuno, Tatsusada, Okamoto, Tomoko, Kokubun, Norito, Nishiyama, Kazutoshi, Kaida, Kenichi, Bokuda, Kota, Katsuno, Masahisa, Yabe, Ichiro, Saji, Etsuji, Yokota, Takanori, Hatanaka, Yuki, Nakahara, Jin, Sugimoto, Takamichi, Tanaka, Fumiaki, Tomita, Satoshi, Yamano, Yoshihisa, Hayashi, Tomohiro, Yamazaki, Hiroki, Tokashiki, Takashi, Horiuchi, Kazuhiro, Karelis, Guntis, Eftimov, Filip, Banach, Marta, Chyrchel-Paszkiewicz, Urszula, Kochanowicz, Jan, Selmaj, Krzysztof, Zielinski, Tomasz, Banaszkiewicz, Krzysztof, Mitrea, Dan, Scutaru-Kadar, Ana-Maria, Axelerad, Any, Stuchevskaya, Fatima, Boyko, Alexey, Khabirov, Farit, Trushnikova, Tatiana, Goncharova, Zoya, Suponeva, Natalia, Dorogov, Nikolay, Yakupov, Eduard, Raicevic, Ranko, Miletic Drakulic, Svetlana, Cabrera Serrano, Macarena, Muñoz Blanco, Jose Luis, Guerrero Sola, Antonio, Aguera Morales, Eduardo, Diaz Marin, Carmen, Juntas Morales, Raúl, Yeh, Jiann-Horng, Sung, Jia-Ying, Huang, Han-Wei, Tsai, Nai-Wen, Guo, Yuh-Cherng, Chao, Chi-Chao, Ro, Long-Sun, Sengun, Ihsan, Terzi, Murat, Alpaydin Baslo, Sezin, Koç, Filiz, Necdet Karli, Hamdi, Shulga, Olga, Smolko, Dmytro, Doroshenko, Oleksandr, Tomakh, Nataliya, Kyrychenko, Alla, Seliuk, Olga, Kalbus, Oleksandr, Skrypchenko, Iryna, Novakovska, Olha, Carod-Artal, Francisco Javier, Rinaldi, Simon, Brennan, Kathryn, Ellis, Simon, Carr, Aisling, Matthews, Emma, Traub, Rebecca, Mozaffar, Tahseen, Elliott, Matthew, Bhavaraju-Sanka, Ratna, Nance, Christopher, Levine, Todd, Lisak, Robert, Pasnoor, Mamatha, Pulley, Michael, Roy, Bhaskar, Govindarajan, Raghav, Sahagian, Gregory, Khella, Sami, Jacob, Daniel, Kushlaf, Hani, Sivakumar, Kumaraswamy, Melamed, Isaac, Sharma, Khema, Quick, Adam, Ubogu, Eroboghene, Lacomis, David, Isa, Arnaldo, Brannagan, Thomas, Chen, Shan, Katz, Jonathan, Feinberg, Marc, Pavlakis, Pantelis, Lange, Dale, Gudesblatt, Mark, Tandan, Rup, Gable, Karissa, Rivner, Michael, Barnes, Benjamin, Luke, Donna, Mahuwala, Zabeen, Macwan, Samir, Kwon, Patrick, Scott, James, Altamimi, Sadiq, Sabharwal, Priyanka, Allen, Jeffrey A, Lin, Jie, Basta, Ivana, Dysgaard, Tina, Eggers, Christian, Guptill, Jeffrey T, Gwathmey, Kelly G, Hewamadduma, Channa, Hofman, Erik, Hussain, Yessar M, Kuwabara, Satoshi, Le Masson, Gwendal, Leypoldt, Frank, Chang, Ting, Lipowska, Marta, Lowe, Murray, Lauria, Giuseppe, Querol, Luis, Simu, Mihaela-Adriana, Suresh, Niraja, Tse, Anissa, Ulrichts, Peter, Van Hoorick, Benjamin, Yamasaki, Ryo, Lewis, Richard A, and van Doorn, Pieter A

Published
2024
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7. Design and Rationale of the Global Phase 3 NEURO-TTRansform Study of Antisense Oligonucleotide AKCEA-TTR-LRx (ION-682884-CS3) in Hereditary Transthyretin-Mediated Amyloid Polyneuropathy

Author

Coelho, Teresa, Ando, Yukio, Benson, Merrill D, Berk, John L, Waddington-Cruz, Márcia, Dyck, Peter J, Gillmore, Julian D, Khella, Sami L, Litchy, William J, Obici, Laura, Monteiro, Cecilia, Tai, Li-Jung, Viney, Nicholas J, Buchele, Gustavo, Brambatti, Michela, Jung, Shiangtung W, St. L. O’Dea, Louis, Tsimikas, Sotirios, Schneider, Eugene, Geary, Richard S, Monia, Brett P, and Gertz, Morie

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Rare Diseases, Clinical Trials and Supportive Activities, Neurosciences, Orphan Drug, Clinical Research, Peripheral Neuropathy, Neurodegenerative, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, AKCEA-TTR-L-rx, Antisense oligonucleotide, Clinical trial design, Hereditary transthyretin-mediated amyloid polyneuropathy, Phase 3 clinical trial, AKCEA-TTR-Lrx, Clinical sciences
Abstract

IntroductionAKCEA-TTR-LRx is a ligand-conjugated antisense (LICA) drug in development for the treatment of hereditary transthyretin amyloidosis (hATTR), a fatal disease caused by mutations in the transthyretin (TTR) gene. AKCEA-TTR-LRx shares the same nucleotide sequence as inotersen, an antisense medicine approved for use in hATTR polyneuropathy (hATTR-PN). Unlike inotersen, AKCEA-TTR-LRx is conjugated to a triantennary N-acetylgalactosamine moiety that supports receptor-mediated uptake by hepatocytes, the primary source of circulating TTR. This advanced design increases drug potency to allow for lower and less frequent dosing. The NEURO-TTRansform study will investigate whether AKCEA-TTR-LRx is safe and efficacious, with the aim of improving neurologic function and quality of life in hATTR-PN patients.Methods/designApproximately 140 adults with stage 1 (independent ambulation) or 2 (requires ambulatory support) hATTR-PN are anticipated to enroll in this multicenter, open-label, randomized, phase 3 study. Patients will be assigned 6:1 to AKCEA-TTR-LRx 45 mg subcutaneously every 4 weeks or inotersen 300 mg once weekly until the prespecified week 35 interim efficacy analysis, after which patients receiving inotersen will receive AKCEA-TTR-LRx 45 mg subcutaneously every 4 weeks. All patients will then receive AKCEA-TTR-LRx through the remainder of the study treatment period. The final efficacy analysis at week 66 will compare the AKCEA-TTR-LRx arm with the historical placebo arm from the phase 3 trial of inotersen (NEURO-TTR). The primary outcome measures are between-group differences in the change from baseline in serum TTR, modified Neuropathy Impairment Score + 7, and Norfolk Quality of Life-Diabetic Neuropathy questionnaire.ConclusionNEURO-TTRansform is designed to determine whether targeted delivery of AKCEA-TTR-LRx to hepatocytes with lower and less frequent doses will translate into clinical and quality-of-life benefits for patients with hATTR-PN.Trial registrationThe study is registered at ClinicalTrials.gov (NCT04136184) and EudraCT (2019-001698-10).

Published
2021

8. Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen

Author

Coelho, Teresa, Waddington Cruz, Márcia, Chao, Chi-Chao, Parman, Yeşim, Wixner, Jonas, Weiler, Markus, Barroso, Fabio A., Dasgupta, Noel R., Jung, Shiangtung W., Schneider, Eugene, Viney, Nicholas J., Dyck, P. James B., Ando, Yukio, Gillmore, Julian D., Khella, Sami, Gertz, Morie A., Obici, Laura, and Berk, John L.

Published
2023
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15. Assessing mNIS+7Ionis and international neurologists' proficiency in a familial amyloidotic polyneuropathy trial

Author

Dyck, Peter J, Kincaid, John C, Dyck, P James B, Chaudhry, Vinay, Goyal, Namita A, Alves, Christina, Salhi, Hayet, Wiesman, Janice F, Labeyrie, Celine, Robinson‐Papp, Jessica, Cardoso, Márcio, Laura, Matilde, Ruzhansky, Katherine, Cortese, Andrea, Brannagan, Thomas H, Khoury, Julie, Khella, Sami, Waddington‐Cruz, Márcia, Ferreira, João, Wang, Annabel K, Pinto, Marcus V, Ayache, Samar S, Benson, Merrill D, Berk, John L, Coelho, Teresa, Polydefkis, Michael, Gorevic, Peter, Adams, David H, Plante‐Bordeneuve, Violaine, Whelan, Carol, Merlini, Giampaolo, Heitner, Stephen, Drachman, Brian M, Conceição, Isabel, Klein, Christopher J, Gertz, Morie A, Ackermann, Elizabeth J, Hughes, Steven G, Mauermann, Michelle L, Bergemann, Rito, Lodermeier, Karen A, Davies, Jenny L, Carter, Rickey E, and Litchy, William J

Subjects
Neurodegenerative, Peripheral Neuropathy, Neurosciences, Chronic Pain, Clinical Research, Pain Research, Adult, Aged, Aged, 80 and over, Amyloid Neuropathies, Familial, Cohort Studies, Diagnostic Techniques, Neurological, Disability Evaluation, Female, Humans, International Cooperation, Male, Middle Aged, Neural Conduction, Neurologists, Oligonucleotides, Outcome Assessment, Health Care, Severity of Illness Index, disability, familial amyloidotic polyneuropathy, neurophysiologic tests, oligonucleotide trials, peripheral neuropathy, polyneuropathy signs, proficiency, Medical and Health Sciences, Neurology & Neurosurgery
Abstract

IntroductionPolyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial.MethodsWe assessed: (1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and (2) clinometric performance of modified NIS+7 neurophysiologic tests (mNIS+7Ionis ) and its subscores and correlation with disability and health scores.ResultsThe mNIS+7Ionis sensitively detected, characterized, and broadly scaled diverse polyneuropathy impairments. Polyneuropathy signs (NIS and subscores) correlated with neurophysiology tests, disability, and health scores. Smart Somatotopic Quantitative Sensation Testing of heat as pain 5 provided a needed measure of small fiber involvement not adequately assessed by other tests.ConclusionsSpecially trained neurologists accurately assessed neuropathy signs as compared to referenced neurophysiologic tests. The score, mNIS+7Ionis , broadly detected, characterized, and scaled polyneuropathy abnormality in FAP, which correlated with disability and health scores. Muscle Nerve 56: 901-911, 2017.

Published
2017

16. Estimating Meaningful Differences in Measures of Neuropathic Impairment, Health‐Related Quality of Life, and Nutritional Status in Patients With Hereditary Transthyretin Amyloidosis.

Author

Folkvaljon, Folke, Gertz, Morie, Gillmore, Julian D., Khella, Sami, Masri, Ahmad, Maurer, Mathew S., Cruz, Márcia Waddington, Wixner, Jonas, Chen, Jersey, Reicher, Barry, Kwoh, Jesse, Yarlas, Aaron, and Berk, John L.

Abstract

Introduction/Aims: The degree of change in neuropathic impairment and quality of life (QoL) that is clinically meaningful to patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv‐PN) is not established. This study aimed to estimate the magnitude of treatment differences that are meaningful to patients in measures of neuropathy and QoL and to determine whether eplontersen achieved a meaningful improvement versus placebo. Methods: Data from the NEURO‐TTRansform trial on patients with ATTRv‐PN treated with eplontersen (n = 141) or historical placebo (n = 59) were used. Anchor‐based approaches were used to estimate thresholds for meaningful differences in the modified Neuropathy Impairment Score +7 (mNIS+7) composite score, Norfolk QoL‐Diabetic Neuropathy (Norfolk QoL‐DN) total score, Neuropathy Symptoms and Change (NSC) total score, and modified body mass index (mBMI). Differences between the least squares means of the treatment groups were analyzed. Results: Meaningful improvement in mNIS+7 was estimated as −4.0 points and deterioration as 1.8 points. The estimated ranges of meaningful improvement and deterioration in Norfolk QoL‐DN were −12.8 to −4.0 points, and 5.9 to 14.7 points, respectively. For NSC, ranges were −2.4 to −1.3 points for meaningful improvement, and 0.6 to 5.8 points for deterioration. The estimated meaningful improvement in mBMI was 9.8 kg/m2 × g/L and deterioration was −40.9 kg/m2 × g/L. Improvements in each measure with eplontersen versus placebo were greater than the estimates of meaningful differences. Discussion: Eplontersen demonstrated a clinically meaningful effect on neuropathic impairment, QoL, and nutritional status. Such estimates have implications for clinical practice and trials. [ABSTRACT FROM AUTHOR]

Published
2025
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18. Inotersen preserves or improves quality of life in hereditary transthyretin amyloidosis

Author

Coelho, Teresa, Yarlas, Aaron, Waddington-Cruz, Marcia, White, Michelle K., Sikora Kessler, Asia, Lovley, Andrew, Pollock, Michael, Guthrie, Spencer, Ackermann, Elizabeth J., Hughes, Steven G., Karam, Chafic, Khella, Sami, Gertz, Morie, Merlini, Giampaolo, Obici, Laura, Schmidt, Hartmut H., Polydefkis, Michael, Dyck, P. James B., Brannagan III, Thomas H., Conceição, Isabel, Benson, Merrill D., and Berk, John L.

Published
2020
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19. ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable

Author

Brannagan, III, Thomas H., Auer-Grumbach, Michaela, Berk, John L., Briani, Chiara, Bril, Vera, Coelho, Teresa, Damy, Thibaud, Dispenzieri, Angela, Drachman, Brian M., Fine, Nowell, Gaggin, Hanna K., Gertz, Morie, Gillmore, Julian D., Gonzalez, Esther, Hanna, Mazen, Hurwitz, David R., Khella, Sami L., Maurer, Mathew S., Nativi-Nicolau, Jose, Olugemo, Kemi, Quintana, Luis F., Rosen, Andrew M., Schmidt, Hartmut H., Shehata, Jacqueline, Waddington-Cruz, Marcia, Whelan, Carol, and Ruberg, Frederick L.

Published
2021
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22. Single institution experience with efgartigimod in patients with myasthenia gravis: Patient selection, dosing schedules, treatment response, and adverse events.

Author

Singer, Madeline, Khella, Sami, Bird, Shawn, McIntosh, Paul, Paudyal, Bandhu, Wadhwani, Anil, Quinn, Colin, and Karam, Chafic

Abstract

Introduction/Aims: Efgartigimod is a neonatal Fc receptor blocker and was the first approved medication in its class for the treatment of generalized myasthenia gravis (gMG). As a novel therapy, little is known about the use of efgartigimod in clinical practice. This study aims to describe how efgartigimod is being incorporated into the current therapeutic landscape of MG. Methods: We reviewed the charts of 17 patients with gMG treated with efgartigimod at the University of Pennsylvania between January 2022 and June 2023. Results: Efgartigimod was selected mainly for patients who were treatment refractory, had side effects to other treatments, and/or required quick improvement in their symptoms. All patients had been previously treated with at least one medication for MG and had an average baseline Myasthenia Gravis Activities of Daily Living (MG‐ADL) score of 9.1. The patients treated with efgartigimod improved their MG‐ADL score by an average of 5.5 points at 3 months (p <.001) and 7.1 points by 6 months (p <.001). Forty percent of patients achieved minimal symptom expression. Adverse events (AEs) were reported in 43.7% of patients on efgartigimod, the most common being mild infection (urinary tract infection and thrush). There were no serious AEs. Discussion: This study found efgartigimod to be efficacious, well tolerated, and safe in patients with MG. Efgartigimod should be considered as an add‐on therapy, a bridge therapy, or as a monotherapy if patients have difficulty tolerating other treatments. [ABSTRACT FROM AUTHOR]

Published
2024
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26. Additional file 2 of The impact of inotersen on Neuropathy Impairment Score in patients with hereditary transthyretin amyloidosis with polyneuropathy

Author

Yarlas, Aaron, Lovley, Andrew, Brown, Duncan, Vera-Llonch, Montserrat, Khella, Sami, and Karam, Chafic

Abstract

Additional file 2: Sup Fig. 1. Empirical distribution function curve for change in NIS total score from baseline to week 65 by treatment arm. Abbreviation: NIS, neuropathy impairment score.

Published
2023
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28. Additional file 3 of The impact of inotersen on Neuropathy Impairment Score in patients with hereditary transthyretin amyloidosis with polyneuropathy

Author

Yarlas, Aaron, Lovley, Andrew, Brown, Duncan, Vera-Llonch, Montserrat, Khella, Sami, and Karam, Chafic

Abstract

Additional file 3: Sup Fig. 2. Empirical distribution function curve for change in NIS total score from baseline to week 65 by treatment arm. Abbreviation: NIS-LL, neuropathy impairment score – lower limb.

Published
2023
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29. Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen

Author

Coelho, Teresa, primary, Waddington Cruz, Márcia, additional, Chao, Chi-Chao, additional, Parman, Yeşim, additional, Wixner, Jonas, additional, Weiler, Markus, additional, Barroso, Fabio A., additional, Dasgupta, Noel R., additional, Jung, Shiangtung W., additional, Schneider, Eugene, additional, Viney, Nicholas J., additional, Dyck, P. James B., additional, Ando, Yukio, additional, Gillmore, Julian D., additional, Khella, Sami, additional, Gertz, Morie A., additional, Obici, Laura, additional, and Berk, John L., additional

Published
2022
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31. Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine

Author

Burns, Ted M., Smith, Gordon A., Allen, Jeffrey A., Amato, Anthony A., Arnold, David W., Barohn, Richard, Benatar, Michael, Bird, Shawn J., Bromberg, Mark, Chahin, Nizar, Ciafaloni, Emma, Cohen, Jeffrey A., Corse, Andrea, Crum, Brian A., David, William S., Dimberg, Elliot, Sousa, Eduardo A. De, Donofrio, Peter D., Dyck, James P. B., Engel, Andrew G., Ensrud, Erik R., Ferrante, Mark, Freimer, Miriam, Gable, Karissa L., Gibson, Summer, Gilchrist, James M., Goldstein, Jonathan M., Gooch, Clifton L., Goodman, Brent P., Gorelov, Dmitri, Gospe, Sidney M., Jr., Goyal, Namita A., Guidon, Amanda C., Guptill, Jeffrey T., Gutmann, Laurie, Gutmann, Ludwig, Gwathmey, Kelly, Harati, Yadollah, Harper, Michel C., Jr., Hehir, Michael K., Hobson-Webb, Lisa D., Howard, James F., Jr., Jackson, Carlayne E., Johnson, Nicholas, Jones, Sarah M., Juel, Vern C., Kaminski, Henry J., Karam, Chafic, Kennelly, Kathleen D., Khella, Sami, Khoury, Julie, Kincaid, John C., Kissel, John T., Kolb, Noah, Lacomis, David, Ladha, Shafeeq, Larriviere, Daniel, Lewis, Richard A., Li, Yuebing, Litchy, William J., Logigian, Eric, Lou, Jau-Shin, MacGowen, Daniel J.L., Maselli, Ricardo, Massey, Janice M., Mauermann, Michelle L., Mathews, Katherine D., Meriggioli, Matthew N., Miller, Robert G., Moon, Joon-Shik, Mozaffar, Tahseen, Nations, Sharon P., Nowak, Richard J., Ostrow, Lyle W., Pascuzzi, Robert M., Peltier, Amanda, Ruzhansky, Katherine, Richman, David P., Ross, Mark A., Rubin, DEVON I., Russell, James A., Sachs, George M., Salajegheh, Mohammad Kian, Saperstein, David S., Scelsa, Stephen, Selcen, Duygu, Shaibani, Aziz, Shieh, Perry B., Silvestri, Nicholas J., Singleton, Rob J., Smith, Benn E., So, Yuen T., Solorzano, Guillermo, Sorenson, Eric J., Srinivasen, Jayashri, Tavee, Jinny, Tawil, Rabi, Thaisetthawatkul, Pariwat, Thornton, Charles, Trivedi, Jaya, Vernino, Steven, Wang, Annabel K., Webb, Tyler A., Weiss, Michael D., Windebank, Anthony J., and Wolfe, Gil I.

Published
2016
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32. Vision Loss as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy: A Case Series.

Author

Kruszewski, Adam M., Tauqeer, Zujaja, Meer, Elana A., Bautista, Sana Ali, Cherayil, Neena R., Cimino, Marcus E., Khella, Sami L., Lancaster, Eric, Bird, Shawn J., Scherer, Steven S., Revere, Karen E., Hamedani, Ali G., Liu, Grant T., and Tamhankar, Madhura A.

Abstract

Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired, immune-mediated, and clinically heterogeneous demyelinating disease affecting the nerve roots and peripheral nerves. We report a series of 4 patients who presented with early and progressive vision loss in the context of new-onset CIDP: 3 due to papilledema and 1 due to optic neuropathy without papilledema. Methods: This was a retrospective case series of 4 patients with vision loss as a presenting feature of CIDP evaluated at the Hospital of the University of Pennsylvania from January 2016 to August 2021. Demographic, clinical, diagnostic, and treatment data were collected via retrospective medical record review. Results: Case 1 was a 51-year-old man with 2 months of progressive bilateral papilledema associated with reduced visual acuity (count fingers at 1 foot in each eye) and severely constricted visual fields. Case 2 was a 36-year-old man with 4 months of worsening headaches, reduced visual acuity (count fingers at 1 foot in each eye), severely constricted visual fields, and papilledema. Case 3 was a 39-year-old man with papilledema causing progressive vision loss (20/80 in both eyes), headaches, and relapsing limb sensorimotor deficits. Case 4 was a 19-year-old man with 3 months of progressive bilateral visual decline (20/400 in the right eye, 20/600 in the left eye), central scotoma, and optic disc pallor consistent with optic neuropathy without papilledema. All 4 patients met clinical and electrodiagnostic criteria of CIDP. Cases 3 and 4 each tested positive for serum neurofascin-155 IgG4 antibodies. All patients were managed with immunomodulatory therapy. Cases 1 and 2 also each required surgical intervention with bilateral optic nerve sheath fenestration and cerebrospinal fluid (CSF) shunting procedures. Conclusion: Vision loss from optic neuropathy with or without papilledema has rarely been reported in CIDP, and typically has been described in the context of longstanding disease. Our cases highlight how CIDP can present with early vision loss that may be profound and challenging to manage if diagnosis is delayed. CIDP should be considered in any patient with new progressive vision loss when associated with peripheral sensorimotor symptoms and elevated CSF protein. The small subgroup of CIDP patients with neurofascin-155 antibodies may be at particular risk of optic nerve involvement. [ABSTRACT FROM AUTHOR]

Published
2023
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36. Clinical and Epidemiological Characteristics of Patients with TTR Mutations and Polyneuropathy Manifestations of Hereditary Transthyretin Amyloidosis: Insights from a Genetic Testing Program (2835)

Author

Khella, Sami, primary, Shah, Keyur, additional, Delgado, Diego, additional, Marti, Catherine, additional, Keller, Andrew, additional, Jefferies, John, additional, Dolinksy, Jill, additional, Gabriel, Aaron, additional, Narayana, Arvind, additional, and Olugemo, Kemi, additional

Published
2021
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40. Neuropathy symptom and change: Inotersen treatment of hereditary transthyretin amyloidosis

Author

Dyck, P. James B., primary, Coelho, Teresa, additional, Waddington Cruz, Marcia, additional, Brannagan, Thomas H., additional, Khella, Sami, additional, Karam, Chafic, additional, Berk, John L., additional, Polydefkis, Michael J., additional, Kincaid, John C., additional, Wiesman, Janice F., additional, Litchy, William J., additional, Mauermann, Michelle L., additional, Ackermann, Elizabeth J., additional, Baker, Brenda F., additional, Jung, Shiangtung W., additional, Guthrie, Spencer, additional, Pollock, Michael, additional, and Dyck, Peter J., additional

Published
2020
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41. Rationale and Design of NEURO-TTRansform, a Phase 3 Study to Evaluate the Efficacy and Safety of AKCEA-TTR-LRx (ION-682884) in Patients with Hereditary Transthyretin-Mediated Amyloid Polyneuropathy (2240)

Author

Khella, Sami, primary, Gertz, Morie A., additional, Coelho, Teresa, additional, Monteiro, Cecilia, additional, Tai, Li-Jung, additional, Viney, Nicholas, additional, Buchele, Gustavo, additional, Brambatti, Michela, additional, Tsimikas, Sotirios, additional, Jung, Shiangtung, additional, O’Dea, Louis St. L., additional, Schneider, Eugene, additional, Geary, Richard, additional, and Monia, Brett, additional

Published
2020
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47. Inotersen preserves or improves quality of life in hereditary transthyretin amyloidosis

Author

Coelho, Teresa, primary, Yarlas, Aaron, additional, Waddington-Cruz, Marcia, additional, White, Michelle K., additional, Sikora Kessler, Asia, additional, Lovley, Andrew, additional, Pollock, Michael, additional, Guthrie, Spencer, additional, Ackermann, Elizabeth J., additional, Hughes, Steven G., additional, Karam, Chafic, additional, Khella, Sami, additional, Gertz, Morie, additional, Merlini, Giampaolo, additional, Obici, Laura, additional, Schmidt, Hartmut H., additional, Polydefkis, Michael, additional, Dyck, P. James B., additional, Brannagan III, Thomas H., additional, Conceição, Isabel, additional, Benson, Merrill D., additional, and Berk, John L., additional

Published
2019
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49. Long-Term Efficacy and Safety of Inotersen for Hereditary Transthyretin Amyloidosis: NEURO-TTR Open-Label Extension 2-Year Update (S27.008)

Author

Brannagan, Thomas, primary, Cruz, Marcia Waddington, additional, Wang, Annabel K., additional, Polydefkis, Michael J., additional, Dyck, Peter J., additional, Khella, Sami, additional, Plante-Bordeneuve, Violaine, additional, Berk, John L., additional, Barroso, Fabio, additional, Merlini, Giampaolo, additional, Conceição, Isabel, additional, Hughes, Steven G., additional, Kwoh, Jesse, additional, Jung, Shiangtung W., additional, Guthrie, Spencer, additional, Pollock, Michael, additional, Benson, Merrill D., additional, Gertz, Morie, additional, and Coelho, Teresa, additional

Published
2019
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50. Responsiveness of Neuropathy Symptom and Change (NSC) Score Components in Inotersen Treatment of Hereditary Transthyretin Amyloidosis Polyneuropathy (P3.9-060)

Author

Dyck, P. James B., primary, Coelho, Teresa, additional, Cruz, Marcia Waddington, additional, Brannagan, Thomas, additional, Khella, Sami, additional, Karam, Chafic, additional, Berk, John L., additional, Polydefkis, Michael J., additional, Kincaid, John C., additional, Wiesman, Janice F., additional, Litchy, William, additional, Mauermann, Michelle L., additional, Ackermann, Elizabeth J., additional, Baker, Brenda F., additional, Jung, Shiangtung W., additional, Guthrie, Spencer, additional, Pollock, Michael, additional, and Dyck, Peter J., additional

Published
2019
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