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2. Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

Author

Thomas, Florian P, Brannagan, Thomas H, Butterfield, Russell J, Desai, Urvi, Habib, Ali A, Herrmann, David N, Eichinger, Katy J, Johnson, Nicholas E, Karam, Chafic, Pestronk, Alan, Quinn, Colin, Shy, Michael E, Statland, Jeffrey M, Subramony, Sub H, Walk, David, Stevens-Favorite, Katherine, Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, and Attie, Kenneth M

Subjects
Rare Diseases, Clinical Trials and Supportive Activities, Charcot-Marie-Tooth Disease, Neurosciences, Clinical Research, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

ObjectiveTo determine whether locally acting ACE-083 is safe, well tolerated, and increases muscle volume, motor function, and quality of life (QoL) in adults with Charcot-Marie-Tooth disease (CMT) type 1.MethodsThis phase 2 study enrolled adults with CMT1 or CMTX (N=63). Part 1 was open-label and evaluated safety and tolerability of different dose levels of ACE-083 for use in Part 2. Part 2 was a randomized, placebo-controlled, 6-month study of 240 mg/muscle ACE-083 injected bilaterally in the tibialis anterior muscle, followed by a 6-month, open-label extension in which all patients received ACE-083. Pharmacodynamic endpoints included total muscle volume (TMV; primary endpoint), contractile muscle volume (CMV), and fat fraction. Additional secondary endpoints included 6-minute walk test, 10-meter walk/run, muscle strength, and QoL. Safety was assessed with treatment-emergent adverse events (TEAEs) and clinical laboratory tests.ResultsIn Part 1 (n=18), ACE-083 was generally safe and well tolerated at all dose levels, with no serious AEs, TEAEs ≥Grade 3, or death reported. In Part 2 (n=45 enrolled, n=44 treated), there was significantly greater change in TMV with ACE-083 compared with placebo (LS mean difference: 13.5%; p = 0.0096). There was significant difference between ACE-083 and placebo for CMV and change in ankle dorsiflexion strength. Fat fraction and all other functional outcomes were not significantly improved by ACE-083. Moderate-to-mild injection-site reactions were the most common TEAEs.ConclusionsDespite significantly increased TMV and CMV, patients with CMT receiving ACE-083 in tibialis anterior muscles did not demonstrate greater functional improvement compared with those receiving placebo.Classification of evidenceThis study provides Class II evidence that intramuscular ACE-083 is safe, well tolerated, and increases total muscle volume after 6 months of treatment in adults with CMT1 or CMTX.

Published
2022

6. Contributors

Author

Abdulai-Saiku, Samira, primary, Appel, Stanley H., additional, Arnold, Arthur P., additional, Arnold, Lisa M., additional, Arnold, Robert M., additional, Bacha, Alexa, additional, Backonja, Miroslav “Misha”, additional, Bailey, Zinzi D., additional, Bateman, Lucinda, additional, Beers, David R., additional, Berti, Anna, additional, Bhatnagar, Mamta, additional, Binder, Devin K., additional, Boido, Marina, additional, Boldrini, Maura, additional, Borsook, David, additional, Breakefield, Xandra O., additional, Brown, Robert H., additional, Burstein, Rami, additional, Butelman, Eduardo R., additional, Caplan, Louis R., additional, Chen, S., additional, Chesselet, Marie-Françoise, additional, Clemens, Stefan, additional, Clemens, Paula R., additional, Coyle, Joseph T., additional, DeWitt, John C., additional, Dubal, Dena B., additional, Dubljević, Veljko, additional, Feldman, Eva L., additional, Fischer, Beth A., additional, Flux, M.C., additional, Fortin, J.S., additional, Frasca, Angelisa, additional, Garbarini, Francesca, additional, Gasser, Thomas, additional, Gillespie, Charles F., additional, Gold, Michael S., additional, Gold, Stefan M., additional, Hagerman, Randi, additional, Hamel, Regan, additional, Haney, Craig, additional, Harris, James C., additional, Hassani, Sara, additional, Haughey, Norman J., additional, Heng, Vibol, additional, Horn, J., additional, Ionescu, Rosana-Bristena, additional, Iorio, Raffaele, additional, Irwin, David J., additional, Kaminski, Henry J., additional, Khammash, Dalia, additional, Khurana, Vikram, additional, Kilstrup-Nielsen, Charlotte, additional, Kim, Bhumsoo, additional, Kim, Boram, additional, Klein, Marieke, additional, Koen, Nastassja, additional, Konopaske, Glenn T., additional, Korecka, Joanna A., additional, Kornum, Birgitte Rahbek, additional, Kreek, Mary Jeanne, additional, Kristensson, Krister, additional, Krzak, Grzegorz, additional, Kusner, Linda L., additional, Landsberger, Nicoletta, additional, Lee, Edward B., additional, Li, Tong, additional, Liberski, Paweł P., additional, Lochner, Christine, additional, Lowry, Christopher A., additional, Mann, J. John, additional, Marincowitz, Clara, additional, Mayer, E.A., additional, Mayer, E.D., additional, McCall, Iris Coates, additional, McCullough, Louise D., additional, Meaney, Michael J., additional, Melo de Gusmao, Claudio, additional, Menesgere, Abhishek L., additional, Mignot, Emmanuel, additional, Mobley, William C., additional, Montalvo, Mayra, additional, Moreland-Capuia, Alisha R., additional, Neppi-Modona, Marco, additional, Nicaise, Alexandra M., additional, Nishi, Rae, additional, O'Toole, Orna, additional, Overk, Cassia, additional, Ozelius, Laurie, additional, Parsons, Matthew P., additional, Penticoff, H.B., additional, Peruzzotti-Jametti, Luca, additional, Peters, Owen M., additional, Peterson, Allison, additional, Phan, Jessica M., additional, Pittock, Sean J., additional, Pluchino, Stefano, additional, Polk, Thad A., additional, Puwanant, Araya, additional, Rajagopal, Shreya K., additional, Ravindranath, Vijayalakshmi, additional, Raymond, Lynn A., additional, Reed, Brian, additional, Ressler, Kerry J., additional, Ritchie, Diane L., additional, Rubin, Leah H., additional, Sakowski, Stacey A., additional, Saporta, Mario A., additional, Savonenko, Alena V., additional, Scharfman, Helen E., additional, Shapiro, Bruce K., additional, Sharma, Nutan, additional, Shaw, Cayce K., additional, Shy, Michael E., additional, Sikorska, Beata, additional, Silverman, Ethan J., additional, Simon, Roger P., additional, Simonyan, Kristina, additional, Sims-Robinson, Catrina, additional, Smeyne, Richard Jay, additional, Smith, Clay, additional, Smith, Colin, additional, Srinivasan, Sharan R., additional, Stein, Dan J., additional, Stephen, Christopher D., additional, Subramanian, Indu, additional, Szabo, Edina, additional, Thomas, Alissa A., additional, Tovar-y-Romo, Luis B., additional, Vahabzadeh, Arshya, additional, Vercelli, Alessandro, additional, Viera-Ortiz, Ashley, additional, Wallin, Mitchell T., additional, Werling, Donna M., additional, Wichmann, Thomas, additional, Wiley, Clayton A., additional, Williams, David R., additional, Willis, Cory, additional, Wong, Philip C., additional, Yuferov, Vadim, additional, Zhao, Weihua, additional, Zigmond, Michael J., additional, and Živković, Saša A., additional

Published
2023
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9. Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A

Author

Doherty, Carolynne M., primary, Howard, Paige, additional, O'Donnell, Luke F., additional, Zuccarino, Riccardo, additional, Wastling, Stephen, additional, Milev, Evelin, additional, Banks, Tina, additional, Shah, Sachit, additional, Zafeiropoulos, Nick, additional, Stephens, Katherine J., additional, Sarkozy, Anna, additional, Grider, Tiffany, additional, Feely, Shawna M. E., additional, Manzur, Adnan, additional, Shy, Rosemary R., additional, Skorupinska, Mariola, additional, Pipis, Menelaos, additional, Nicolaisen, Emma, additional, McDowell, Amy, additional, Dilek, Nuran, additional, Rossor, Alexander M., additional, Laura, Matilde, additional, Clark, Christopher, additional, Muntoni, Francesco, additional, Thedens, Daniel, additional, Thornton, John, additional, Morrow, Jasper M., additional, Shy, Michael E., additional, and Reilly, Mary M., additional

Published
2024
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11. Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B

Author

Touvier, Thierry, primary, Veneri, Francesca A., additional, Claessens, Anke, additional, Ferri, Cinzia, additional, Mastrangelo, Rosa, additional, Sorgiati, Noémie, additional, Bianchi, Francesca, additional, Valenzano, Serena, additional, Del Carro, Ubaldo, additional, Rivellini, Cristina, additional, Duong, Phu, additional, Shy, Michael E., additional, Kelly, Jeffery W., additional, Svaren, John, additional, Wiseman, R. Luke, additional, and D’Antonio, Maurizio, additional

Published
2024
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15. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.

Author

Xu, Isaac R. L., Danzi, Matt C., Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M., Cortese, Andrea, Shy, Michael E., Scherer, Steven S., Herrmann, David N., Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G., Patel, Pooja, Feely, Shawna, Rebelo, Adriana P., and Dohrn, Maike F.

Subjects
DORSIFLEXION, EFFECT sizes (Statistics), RESEARCH funding, SEVERITY of illness index, GENETIC variation, NUCLEOTIDES, CHARCOT-Marie-Tooth disease, GENOMES, DISEASE progression, GENETICS, SEQUENCE analysis, PHENOTYPES
Abstract

Background: Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common hereditary neuropathy. Despite this shared genetic origin, there is considerable variability in clinical severity. It is hypothesized that genetic modifiers contribute to this heterogeneity, the identification of which may reveal novel therapeutic targets. In this study, we present a comprehensive analysis of clinical examination results from 1564 CMT1A patients sourced from a prospective natural history study conducted by the RDCRN‐INC (Inherited Neuropathy Consortium). Our primary objective is to delineate extreme phenotype profiles (mild and severe) within this patient cohort, thereby enhancing our ability to detect genetic modifiers with large effects. Methods: We have conducted large‐scale statistical analyses of the RDCRN‐INC database to characterize CMT1A severity across multiple metrics. Results: We defined patients below the 10th (mild) and above the 90th (severe) percentiles of age‐normalized disease severity based on the CMT Examination Score V2 and foot dorsiflexion strength (MRC scale). Based on extreme phenotype categories, we defined a statistically justified recruitment strategy, which we propose to use in future modifier studies. Interpretation: Leveraging whole genome sequencing with base pair resolution, a future genetic modifier evaluation will include single nucleotide association, gene burden tests, and structural variant analysis. The present work not only provides insight into the severity and course of CMT1A, but also elucidates the statistical foundation and practical considerations for a cost‐efficient and straightforward patient enrollment strategy that we intend to conduct on additional patients recruited globally. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Author

Donlevy, Gabrielle A., primary, Cornett, Kayla M.D., additional, Garnett, Sarah P., additional, Shy, Rosemary, additional, Estilow, Timothy, additional, Yum, Sabrina W., additional, Anderson, Kimberly, additional, Pareyson, Davide, additional, Moroni, Isabella, additional, Muntoni, Francesco, additional, Reilly, Mary M., additional, Finkel, Richard S., additional, Herrmann, David N., additional, Eichinger, Katy J., additional, Shy, Michael E., additional, Burns, Joshua, additional, and Menezes, Manoj P., additional

Published
2023
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21. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Author

Fridman, Vera, Sillau, Stefan, Acsadi, Gyula, Bacon, Chelsea, Dooley, Kimberly, Burns, Joshua, Day, John, Feely, Shawna, Finkel, Richard S., Grider, Tiffany, Gutmann, Laurie, Herrmann, David N., Kirk, Callyn A., Knause, Sarrah A., Laurá, Matilde, Lewis, Richard A., Li, Jun, Lloyd, Thomas E., Moroni, Isabella, Muntoni, Francesco, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Giuseppe, Ramchandren, Sindhu, Saporta, Mario, Sadjadi, Reza, Shy, Rosemary R., Siskind, Carly E., Sumner, Charlotte J., Walk, David, Wilcox, Janel, Yum, Sabrina W., Züchner, Stephan, Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., and Shy, Michael E.

Published
2020
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24. Advances in diagnosis and management of distal sensory polyneuropathies

Author

Silsby, Matthew, Feldman, Eva L., Dortch, Richard D., Roth, Alison, Haroutounian, Simon, Rajabally, Yusuf A., Vucic, Steve, Shy, Michael E., Oaklander, Anne Louise, Simon, Neil G., Silsby, Matthew, Feldman, Eva L., Dortch, Richard D., Roth, Alison, Haroutounian, Simon, Rajabally, Yusuf A., Vucic, Steve, Shy, Michael E., Oaklander, Anne Louise, and Simon, Neil G.

Abstract

Distal sensory polyneuropathy (DSP) is characterised by length-dependent, sensory-predominant symptoms and signs, including potentially disabling symmetric chronic pain, tingling and poor balance. Some patients also have or develop dysautonomia or motor involvement depending on whether large myelinated or small fibres are predominantly affected. Although highly prevalent, diagnosis and management can be challenging. While classic diabetes and toxic causes are well-recognised, there are increasingly diverse associations, including with dysimmune, rheumatological and neurodegenerative conditions. Approximately half of cases are initially considered idiopathic despite thorough evaluation, but often, the causes emerge later as new symptoms develop or testing advances, for instance with genetic approaches. Improving and standardising DSP metrics, as already accomplished for motor neuropathies, would permit in-clinic longitudinal tracking of natural history and treatment responses. Standardising phenotyping could advance research and facilitate trials of potential therapies, which lag so far. This review updates on recent advances and summarises current evidence for specific treatments.

Published
2023

31. Natural history of Charcot‐Marie‐Tooth disease during childhood

Author

Cornett, Kayla M.D., Menezes, Manoj P., Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Kate J., Herrmann, David N., Bray, Paula, Halaki, Mark, Shy, Michael E., Burns, Joshua, Cornett, Kayla MD, Menezes, Manoj P, Ouvrier, Robert, Acsadi, Gyula, Shy, Rosemary R, Calabrese, Daniela, Foscan, Maria, Sala, Roberta, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W, Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M, Finkel, Richard S, Eichinger, Kate J, Herrmann, David N, Bray, Paula, Rose, Kristy, Halaki, Mark, Pallant, Julie, Lek, Monkol, Shy, Michael E, and Burns, Joshua

Published
2017
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33. Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Author

Mannil, Manoj, Solari, Alessandra, Leha, Andreas, Pelayo-Negro, Ana L., Berciano, José, Schlotter-Weigel, Beate, Walter, Maggie C., Rautenstrauss, Bernd, Schnizer, Tuuli J., Schenone, Angelo, Seeman, Pavel, Kadian, Chandini, Schreiber, Olivia, Angarita, Natalia G., Fabrizi, Gian Maria, Gemignani, Franco, Padua, Luca, Santoro, Lucio, Quattrone, Aldo, Vita, Giuseppe, Calabrese, Daniela, Young, Peter, Laurà, Matilde, Haberlová, Jana, Mazanec, Radim, Paulus, Walter, Beissbarth, Tim, Shy, Michael E., Reilly, Mary M., Pareyson, Davide, and Sereda, Michael W.

Published
2014
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39. Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

Author

Abbott, Jamie A., Meyer‐Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel‐Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, and Francklyn, Christopher

Published
2018
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40. Cover Image, Volume 39, Issue 3

Author

Abbott, Jamie A., Meyer‐Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel‐Vanagaite, Lina, Züchner, Stephan, De Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, and Francklyn, Christopher

Published
2018
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43. Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease

Author

Laurá, Matilde, Singh, Dishan, Ramdharry, Gita, Morrow, Jasper, Skorupinska, Mariola, Pareyson, Davide, Burns, Joshua, Lewis, Richard A., Scherer, Steven S., Herrmann, David N., Cullen, Nicholas, Bradish, Christopher, Gaiani, Luca, Martinelli, Nicolò, Gibbons, Paul, Pfeffer, Glenn, Phisitkul, Phinit, Wapner, Keith, Sanders, James, Flemister, Sam, Shy, Michael E., and Reilly, Mary M.

Published
2018
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46. Contributors

Author

Aaen, Gregory S., primary, Abend, Nicholas Scott, additional, Abou-Hamden, Amal, additional, Allen, Jeffrey C., additional, Amato, Anthony A., additional, Amlie-Lefond, Catherine, additional, Ashwal, Stephen, additional, Bailey, Russell C., additional, Bale, James F., additional, Banwell, Brenda, additional, Barañano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Bartels, Ute K., additional, Bartnik-Olson, Brenda, additional, Barzilai, Ori, additional, Bassuk, Alexander, additional, Bearden, David R., additional, Ben-Sira, Liat, additional, Bernard, Timothy J., additional, Berry-Kravis, Elizabeth, additional, Beslow, Lauren A., additional, Biegel, Jaclyn A., additional, Billinghurst, Lori, additional, Birnbaum, Angela K., additional, Blackburn, Joanna S., additional, Bobowski, Nuala, additional, Boire, Adrienne, additional, Bönnemann, Carsten G., additional, Bonifacio, Sonia L., additional, Bonthius, Daniel J., additional, Borcherding, Breck, additional, Branchford, Brian R., additional, Brandsema, John, additional, Brennan, Kathryn M., additional, Brenton, J. Nicholas, additional, Brooks-Kayal, Amy R., additional, Brown, Lawrence W., additional, Buchalter, Jeffrey, additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Campoy, Cristina, additional, Carpenter, Jessica L., additional, Chang, Taeun, additional, Chau, Vann, additional, Chi, Susan N., additional, Chiriboga, Claudia A., additional, Cho, Yoon-Jae, additional, Christian, Cindy W., additional, Chrestian, Nicholas, additional, Cilio, Maria Roberta, additional, Clark, Robin D., additional, Cohen, Bruce H., additional, Cohn, Ronald D., additional, Connolly, Anne M., additional, Constable, Todd, additional, Constantini, Shlomi, additional, Conway, Jeannine M., additional, Coulter, David L., additional, Cowan, Tina M., additional, Dale, Russell C., additional, Darbro, Benjamin, additional, Darras, Basil T., additional, Dastgir, Jahannaz, additional, De Meirleir, Linda, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Deisch, Jeremy K., additional, Deltenre, Paul, additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, Dhamne, Sameer C., additional, Diaz, Jullianne, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Doherty, Dan, additional, Donner, Elizabeth J., additional, Dosenbach, Nico U.F., additional, Dowling, James J., additional, Drake, James M., additional, Ejerskov, Cecile, additional, Engel, Andrew G., additional, Enns, Gregory M., additional, Escolano-Margarit, María Victoria, additional, Etzion, Iris, additional, Fatemi, S. Ali, additional, Fehlings, Darcy L., additional, Feinberg, Michelle Lauren, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Finkel, Richard S., additional, Fisher, Paul G., additional, Flanigan, Kevin, additional, Foreman, Nicholas K., additional, Franco, Israel, additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Fuente-Mora, Cristina, additional, Furman, Joseph M., additional, Gallagher, Renata C., additional, Garel, Catherine, additional, Gertsch, Emily, additional, Gilbert, Donald L., additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Glass, Hannah C., additional, Glauser, Tracy, additional, Glykys, Joseph, additional, Goldstein, Amy, additional, Gonorazky, Hernan Dario, additional, Gonzalez, Rodolfo, additional, Goodkin, Howard P., additional, Graham, John M., additional, Greninger, Alexander L., additional, Gronseth, Gary, additional, Gropman, Andrea L., additional, Grundy, Richard, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Hamblin, Milton H., additional, Hani, Abeer J., additional, Hanmantgad, Sharyu, additional, Harbert, Mary J., additional, Harini, Chellamani, additional, Harriott, Andrea M., additional, Heatwole, Chad, additional, Hershey, Andrew D., additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Hurwitz, Kathleen A., additional, Hwang, Eugene, additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jain, Sejal V., additional, Jordan, Lori, additional, Kabbouche, Marielle A., additional, Kacperski, Joanne, additional, Kang, Peter B., additional, Kariannis, Matthias A., additional, Kaufmann, Horacio, additional, Kaye, Harper L., additional, Keating, Robert, additional, Kennedy, Colin R., additional, Khakoo, Yasmin, additional, Kirton, Adam, additional, Kissel, John T., additional, Knupp, Kelly G., additional, Korf, Bruce R., additional, Kossoff, Eric H., additional, Kothare, Sanjeev V., additional, Kupfer, Oren, additional, LaFrance, W. Curt, additional, Latal, Beatrice, additional, Leber, Steven M., additional, Lee, Jean-Pyo, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leventer, Richard J., additional, Licht, Daniel J., additional, Lichter-Konecki, Uta, additional, Lidar, Zvi, additional, Liem, Djin Gie, additional, Loddenkemper, Tobias, additional, Long, Roger K., additional, Luc, Quyen N., additional, Mackay, Mark, additional, Majnemer, Annette, additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Maricich, Stephen M., additional, Maski, Kiran P., additional, Mathur, Mudit, additional, Matthews, Dennis J., additional, McMahon, Kelly, additional, DeMara-Hoth, Megan B., additional, Mendelsohn, Bryce, additional, Mennella, Julie A., additional, Ment, Laura R., additional, Mercuri, Eugenio, additional, Michelson, David J., additional, Mikati, Mohamad A., additional, Mikhail, Fady M., additional, Miller, Steven Paul, additional, Milunsky, Jeff M., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda M., additional, Mitchell, Wendy G., additional, Mohan, Michael A., additional, Mohassel, Payam, additional, Moharir, Mahendranath, additional, Monani, Umrao R., additional, Monje Deisseroth, Michelle, additional, Moodley, Manikum, additional, Mower, Andrew, additional, Moxley, Richard T., additional, Mueller, Sabine, additional, Muotri, Alysson R., additional, Nagamani, Sandesh C.S., additional, Narayanan, Mohan J., additional, Narayanan, Vinodh, additional, Nass, Ruth D., additional, Neul, Jeffrey L., additional, Nevo, Yoram, additional, Ng, Bobby G., additional, Nickels, Katherine C., additional, Nimmo, Graeme A.M., additional, Noetzel, Michael J., additional, Norcliffe-Kaufmann, Lucy, additional, Nordli, Douglas R., additional, Nowak-Göttl, Ulrike, additional, O'Brien, Hope L., additional, Oleszek, Joyce, additional, Oskoui, Maryam, additional, Paciorkowski, Alex R., additional, Packer, Roger J., additional, Packman, Seymour, additional, Palma, Jose-Alberto, additional, Pardo, Andrea C., additional, Parsons, Julie A., additional, Partridge, John Colin, additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearce, William J., additional, Pearl, Phillip L., additional, Penner, Melanie, additional, Percival, Leila, additional, Pereira, Marcia, additional, Pfister, Stefan M., additional, Phillips, John, additional, Plecko, Barbara, additional, Plioplys, Sigita, additional, Poduri, Annapurna, additional, Poisson, Sharon, additional, Pomeroy, Scott L., additional, Poretti, Andrea, additional, Powers, Scott W., additional, Pranzatelli, Michael R., additional, Przekop, Allison, additional, Rabie, Malcolm, additional, Rangasamy, Sampathkumar, additional, Raymond, Gerald V., additional, Reddy, Alyssa T., additional, Rendleman, Rebecca L., additional, Rho, Jong M., additional, Rodan, Lance H., additional, Roddy, Sarah M., additional, Rogers, Elizabeth E., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rotenberg, Alexander, additional, Rust, Robert S., additional, Sanchez, Cheryl P., additional, Sanchez, Pedro, additional, Sánchez Fernández, Iván, additional, Sands, Tristan T., additional, Sanger, Terence D., additional, Sannagowdara, Kumar, additional, Scheinost, Dustin, additional, Scher, Mark S., additional, Schor, Nina F., additional, Schrauwen, Isabelle, additional, Segal, Michael M., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Seltzer, Laurie E., additional, Semrud-Clikeman, Margaret, additional, Shaw, Dennis W., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Shellhaas, Renée A., additional, Sherr, Elliott H., additional, Sheth, Rita D., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shofty, Ben, additional, Shu, Stanford K., additional, Shy, Michael E., additional, Silveira Moriyama, Laura, additional, Silvestri, Nicholas J., additional, Sims, Katherine B., additional, Singer, Harvey S., additional, Singhal, Nilika Shah, additional, Smith, Craig M., additional, Smith, Edward, additional, Smith, Stephen A., additional, Snyder, Evan Y., additional, Soul, Janet, additional, Spalink, Christy L., additional, Spencer, Karen A., additional, Stafstrom, Carl E., additional, Steinfeld, Robert, additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Swoboda, Kathryn J., additional, Tate, Elizabeth D., additional, Tatum, William O., additional, Tein, Ingrid, additional, Tekulve, Kristyn, additional, Tenney, Jeffrey R., additional, Thiele, Elizabeth A., additional, Thompson-Stone, Robert, additional, Tochen, Laura, additional, Tormoehlen, Laura M., additional, Tran, Lily, additional, Trauner, Doris A., additional, Turnacioglu, Sinan O., additional, Ullrich, Nicole J., additional, Urion, David K., additional, Van Camp, Guy, additional, Van Hirtum-Das, Michèle, additional, van Karnebeek, Clara D.M., additional, Van Maldergem, Lionel, additional, Vanderver, Adeline, additional, Vitanza, Nicholas A., additional, von Rhein, Michael, additional, von Scheven, Emily, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walker, Melissa A., additional, Walkup, John T., additional, Walsh, Laurence, additional, Walters-Sen, Lauren C., additional, Wang, Raymond Y., additional, Warner, Thomas T., additional, Whelan, Harry T., additional, Weinberg, Geoffrey A., additional, Wells, Elizabeth M., additional, Wheless, James W., additional, Wirrell, Elaine C., additional, Wisoff, Jeffrey H., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wright, F. Virginia, additional, Wycliffe, Nathaniel D., additional, Yang, Michele L., additional, Yuskaitis, Christopher J., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional

Published
2017
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47. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Author

Rehbein, Tyler, Wu, Tong Tong, Treidler, Simona, Pareyson, Davide, Lewis, Richard, Yum, Sabrina W, McCray, Brett A, Ramchandren, Sindhu, Burns, Joshua, Li, Jun, Finkel, Richard S, Scherer, Steven S, Zuchner, Stephan, Shy, Michael E, Reilly, Mary M, and Herrmann, David N

Subjects
NATURAL history, ACTION potentials, CHARCOT-Marie-Tooth disease, ULNAR nerve, SPINE abnormalities, POLYNEUROPATHIES
Abstract

Recessive SH3TC2 variants cause Charcot-Marie-Tooth disease type 4C (CMT4C). CMT4C is typically a sensorimotor demyelinating polyneuropathy, marked by early onset spinal deformities, but its clinical characteristics and severity are quite variable. Clear relationships between pathogenic variants and the spectrum of disease manifestations are to date lacking. Gene replacement therapy has been shown to ameliorate the phenotype in a mouse model of CMT4C, emphasizing the need for natural history studies to inform clinical trial readiness. Data, including both genetic information and clinical characteristics, were compiled from the longitudinal, prospective dataset of the Inherited Neuropathy Consortium, a member of the Rare Diseases Clinical Research Network (INC-RDCRN). The Charcot Marie Tooth Neuropathy Score (CMTNS), Examination Score (CMTES) and the Rasch-weighted CMTES (CMTES-R) were used to describe symptoms, neurological examinations and neurophysiological characteristics. Standardized response means were calculated at yearly intervals and a mixed model for repeated measures was used to estimate the change in CMTES and CMTES-R over time. Fifty-six individuals (59% female), median age 27 years (range 2–67 years) with homozygous or compound heterozygous variants in SH3TC2 were identified, including 34 unique variants, 14 of which have not previously been published. Twenty-eight participants had longitudinal data available. While there was no significant difference in the CMTES in those with protein truncating versus non-protein truncating variants, there were significant differences in the mean ulnar nerve compound muscle action potential amplitude, the mean radial sensory nerve action potential amplitude, and in the prevalence of scoliosis, suggesting the possibility of a milder phenotype in individuals with one or two non-protein-truncating variants. Overall, the mean value of the CMTES was 13, reflecting moderate clinical severity. There was a high rate of scoliosis (81%), scoliosis surgery (36%), and walking difficulty (94%) among study participants. The CMTES and CMTES-R appeared moderately responsive to change over extended follow-up, demonstrating a standardized response mean of 0.81 standard deviation units or 0.71 standard deviation units, respectively, over 3 years. Our analysis represents the largest cross-sectional and only longitudinal study to date, of the clinical phenotype of both adults and children with CMT4C. With the promise of upcoming genetic treatments, these data will further define the natural history of the disease and inform study design in preparation for clinical trials. [ABSTRACT FROM AUTHOR]

Published
2023
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48. Validation of the parent‐proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life instrument for children aged 0–7 years.

Author

Wu, Tong Tong, Finkel, Richard S., Siskind, Carly E., Feely, Shawna M. E., Burns, Joshua, Reilly, Mary M., Muntoni, Francesco, Milev, Evelin, Estilow, Timothy, Shy, Michael E., and Ramchandren, Sindhu

Subjects
FOCUS groups, RESEARCH evaluation, RESEARCH methodology evaluation, RESEARCH methodology, PEDIATRICS, INTERVIEWING, PSYCHOMETRICS, COMPARATIVE studies, QUESTIONNAIRES, CHARCOT-Marie-Tooth disease, RESEARCH funding, FACTOR analysis, DESCRIPTIVE statistics, PARENTS, LONGITUDINAL method
Abstract

Objective: To evaluate the parent‐proxy version of the pediatric Charcot Marie Tooth specific quality of life (pCMT‐QOL) outcome instrument for children aged 7 or younger with CMT. We have previously developed and validated the direct‐report pCMT‐QOL for children aged 8–18 years and a parent proxy version of the instrument for children 8–18 years old. There is currently no CMT‐QOL outcome measure for children aged 0–7 years old. Methods: Testing was conducted in parents or caregivers of children aged 0–7 years old with CMT evaluated at participating INC sites from the USA, United Kingdom, and Australia. The development of the instrument was iterative, involving identification of relevant domains, item pool generation, prospective pilot testing and clinical assessments, structured focus group interviews, and psychometric testing. The parent‐proxy instrument was validated rigorously by examining previously identified domains and undergoing psychometric tests for children aged 0–7. Results: The parent‐proxy pCMT‐QOL working versions were administered to 128 parents/caregivers of children aged 0–7 years old between 2010 and 2016. The resulting data underwent rigorous psychometric analysis, including factor analysis, internal consistency, and convergent validity, and longitudinal analysis to develop the final parent‐proxy version of the pCMT‐QOL outcome measure for children aged 0–7 years old. Conclusions: The parent‐proxy version of the pCMT‐QOL outcome measure, known as the pCMT‐QOL (0–7 years parent‐proxy) is a valid and sensitive proxy measure of health‐related QOL for children aged 0–7 years with CMT. [ABSTRACT FROM AUTHOR]

Published
2023
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50. Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

Author

Cornett, Kayla MD, Menezes, Manoj P, Bray, Paula, Halaki, Mark, Shy, Rosemary R., Yum, Sabrina W., Estilow, Timothy, Moroni, Isabella, Foscan, Maria, Pagliano, Emanuela, Pareyson, Davide, Laurá, Matilde, Bhandari, Trupti, Muntoni, Francesco, Reilly, Mary M., Finkel, Richard S., Sowden, Janet, Eichinger, Katy J., Herrmann, David N., Shy, Michael E., and Burns, Joshua

Published
2016
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