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1. Review process for IVIg treatment: Lessons learned from INSIGHTS neuropathy study.

Author

Levine, Todd D, Katz, Jonathan S, Barohn, Richard, Vaughan, Leslie J, Dimachkie, Mazen M, Saperstein, David S, Mozaffar, Tahseen, Wolfe, Gil I, Mayo, Matthew S, Badger, Gary J, Katzin, Lara, Ritt, Elissa, Greer, Michelle, DiStefano, Joseph, and Schmidt, Patrick M

Abstract

Background:This project is an effort to understand how orders for IV immunoglobulin (IVIg) are documented and prescribed by physicians, and subsequently, how they are reviewed by insurance companies for the treatment of immune neuropathies. Methods:A panel of neuromuscular specialists reviewed case records from 248 IVIg-naive patients whose in-home IVIg infusion treatment was submitted to insurance for authorization. After reviewing a case record, 1 panelist was asked to make a diagnosis and to answer several questions about the treatment. A second panelist reviewed the original record and follow-up records that were obtained for reauthorization of additional treatments and was asked to determine whether the patient had responded to the treatment. Results:Our specialists believed that only 32.2% of 248 patients had an immune neuropathy and were appropriate candidates for IVIg therapy, whereas 46.4% had neuropathies that were not immune mediated. Only 15.3% of cases met electrodiagnostic criteria for a demyelinating neuropathy. Our specialists believed that 36.7% of 128 cases with follow-up records had responded to therapy. In cases in which the initial reviewer had predicted that there would be a response to IVIg, the second reviewer found that 54% had responded. This is compared with a 27% response rate when the first reviewer predicted that there would be no response (p = 0.019). Conclusions:Our expert review finds that the diagnosis of immune neuropathies made by providers, and subsequently approved for IVIg therapy by payers, is incorrect in a large percentage of cases. If payers include an expert in their review process, it would improve patient selection, appropriate use, and continuation of treatment with this expensive therapeutic agent.

Published
2018

3. Database Evaluation for Muscle and Nerve Diseases - DEMAND: An academic neuromuscular coding system

Author

Pasnoor, Mamatha, primary, Khan, Saud, additional, Jackson, Carlayne E., additional, Kissel, John, additional, Wolfe, Gil I., additional, Nations, Sharon P., additional, Trivedi, Jaya R., additional, Singer, Mike A., additional, Elliott, Jeffrey L., additional, Vernino, Steven, additional, Mummaneni, Reddiah Babu, additional, Herbelin, Laura, additional, Saperstein, David S., additional, Gronseth, Gary, additional, McVey, April L., additional, Dimachkie, Mazen M., additional, and Barohn, Richard J., additional

Published
2023
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4. Phase 2 trial in acetylcholine receptor antibody‐positive myasthenia gravis of transition from intravenous to subcutaneous immunoglobulin: The MGSCIg study

Author

Pasnoor, Mamatha, primary, Bril, Vera, additional, Levine, Todd, additional, Trivedi, Jaya, additional, Silvestri, Nicholas J., additional, Phadnis, Milind, additional, Katzberg, Hans D., additional, Saperstein, David S., additional, Wolfe, Gil I., additional, Herbelin, Laura, additional, Higgs, Kiley, additional, Heim, Andrew J., additional, Statland, Jeffrey M., additional, Barohn, Richard J., additional, and Dimachkie, Mazen M., additional

Published
2023
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6. 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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7. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Author

Hanna, Michael G., Houlden, Henry, Machado, Pedro M., Gang, Qiang, Bettencourt, Conceicao, Healy, Estelle, Parton, Matthew, Holton, Janice L., Brady, Stefen, Hilton-Jones, David, Shieh, Perry B., Zanoteli, Edmar, de Camargo, Leonardo Valente, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J., Dimachkie, Mazen M., McVey, April L., Pasnoor, Mamatha, Glenn, Melanie, Jawdat, Omar, Statland, Jeffrey, Rico, Gabrielle, Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Needham, Merrilee, Mastaglia, Frank, Liang, Christina, Dalakas, Marinos C., Biba, Angie, Chinoy, Hector, Lilleker, James B., Lamb, Janine, Platt, Hazel, Cooper, Robert G., Miller, James A.L., Roberts, Mark, Househam, Elizabeth, Hilton, David, Shivane, Aditya, Bartlett, Amy, Kissel, John T., Runk, Heidi, Wicklund, Matthew, Saperstein, David S., McKinney, Lynette R., Bettencourt, Conceição, Pittman, Alan M., Hughes, Deborah, and Singleton, Andrew B.

Published
2016
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13. Diagnosis of mast cell activation syndrome: a global “consensus-2”

Author

Afrin, Lawrence B., primary, Ackerley, Mary B., additional, Bluestein, Linda S., additional, Brewer, Joseph H., additional, Brook, Jill B., additional, Buchanan, Ariana D., additional, Cuni, Jill R., additional, Davey, William P., additional, Dempsey, Tania T., additional, Dorff, Shanda R., additional, Dubravec, Martin S., additional, Guggenheim, Alena G., additional, Hindman, Kimberly J., additional, Hoffman, Bruce, additional, Kaufman, David L., additional, Kratzer, Stephanie J., additional, Lee, Theodore M., additional, Marantz, Mindy S., additional, Maxwell, Andrew J., additional, McCann, Kelly K., additional, McKee, Dwight L., additional, Menk Otto, Laurie, additional, Pace, Laura A., additional, Perkins, Dahra D., additional, Radovsky, Laurie, additional, Raleigh, Mary S., additional, Rapaport, Sonia A., additional, Reinhold, Emma J., additional, Renneker, Mark L., additional, Robinson, William A., additional, Roland, Aaron M., additional, Rosenbloom, E. Scott, additional, Rowe, Peter C., additional, Ruhoy, Ilene S., additional, Saperstein, David S., additional, Schlosser, David A., additional, Schofield, Jill R., additional, Settle, Janet E., additional, Weinstock, Leonard B., additional, Wengenroth, Martina, additional, Westaway, Mark, additional, Xi, Shijun Cindy, additional, and Molderings, Gerhard J., additional

Published
2020
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16. Contributing Authors

Author

AL-CHALABI, AMMAR, primary, BAMIOU, DORIS-EVA, additional, BANKS, ROBERT W., additional, BAROHN, RICHARD J., additional, BENSTEAD, TIMOTHY J., additional, BERGER, ALAN R., additional, BERTHOLD, C.-H., additional, BHARUCHA, ADIL E., additional, BIRCH, ROLFE, additional, BONKOVSKY, HERBERT L., additional, BOOTH, AUGUST M., additional, BOSCH, E. PETER, additional, BOSTOCK, HUGH, additional, BRADKE, FRANK, additional, BRADY, ROSCOE O., additional, BRIMIJOIN, STEPHEN, additional, BUCK, DEBORAH, additional, BUNGE, RICHARD P., additional, BURKE, DAVID, additional, BURKE, JAMES P., additional, BURNS, TED M., additional, CAMILLERI, MICHAEL, additional, CARNEY, J. AIDAN, additional, CHALK, COLIN, additional, CHANCE, PHILLIP F., additional, CHIU, S.Y., additional, COLLINS, MICHAEL P., additional, COOTE, JOHN H., additional, CORBETT, JAMES J., additional, CORNBLATH, DAVID R., additional, COWEN, T., additional, CUDIA, PAULA, additional, DARRAS, BASIL T., additional, DAVIES, JENNY L., additional, DE GROAT, WILLIAM C., additional, DISPENZIERI, ANGELA, additional, DOMBOVY, MARY L., additional, DONAGHY, MICHAEL, additional, DYCK, PETER J., additional, DYCK, P. JAMES B., additional, ENGEL, ANDREW G., additional, ENGELSTAD, JANEAN, additional, FERRANTE, MARK A., additional, FRAHER, JOHN P., additional, FREEMAN, MASON W., additional, FREEMAN, ROY, additional, FRITSCHE, THOMAS R., additional, GABREëLS-FESTEN, ANNEKE, additional, GARDNER, ERNEST D., additional, GIANNINI, CATERINA, additional, GILDEN, DONALD H., additional, GOEBEL, HANS H., additional, GOLD, RALF, additional, GRANT, IAN A., additional, GREGSON, NORMAN A., additional, GRIFFIN, JOHN W., additional, GROVES, MICHAEL J., additional, HABERMANN, THOMAS M., additional, HAHN, ANGELIKA F., additional, HALL, SUSAN, additional, HALLIWILL, JOHN R., additional, HANNA, MICHAEL G., additional, HARDING, A.E., additional, HARTUNG, HANS-PETER, additional, HERSKOVITZ, STEVEN, additional, HöKE, AHMET, additional, HUGHES, RICHARD A.C., additional, HUXLEY, CLARE, additional, JACOBSON, ROBERT R., additional, JACOBY, ANN, additional, JESSEN, KRISTJÁN R., additional, JOHNSON, DAVID M., additional, JONES, H. ROYDEN, additional, JOYNER, MICHAEL J., additional, KATIRJI, BASHAR, additional, KAUFMAN, KENTON R., additional, KELLY, JOHN J., additional, KENNEDY, WILLIAM R., additional, KIERNAN, MATTHEW C., additional, KIESEIER, BERND C., additional, KIMURA, JUN, additional, KING, R.H.M., additional, KISSEL, JOHN T., additional, KLEIN, CAROLINE M., additional, KLEIN, CHRISTOPHER J., additional, KLEOPA, KLEOPAS A., additional, KLINGELE, CHRISTOPHER J., additional, KREULEN, DAVID L., additional, KYLE, ROBERT A., additional, LACROIX, CATHERINE, additional, LAGERLUND, TERRENCE D., additional, LAMBERT, EDWARD H., additional, LAWSON, SALLY N., additional, LEAVITT, JACQUELINE A., additional, LEIGH, P. NIGEL, additional, LLEWELYN, J.G., additional, LOPATE, GLENN, additional, LOW, PHILLIP A., additional, LUPSKI, JAMES R., additional, LUXON, LINDA M., additional, MARTINI, RUDOLF, additional, MATHIAS, CHRISTOPHER J., additional, MCARTHUR, JUSTIN C., additional, MCDONALD, ELIZABETH S., additional, MCLEOD, JAMES G., additional, MCMANIS, PHILIP G., additional, MELTON, L. JOSEPH, additional, MESSING, ALBEE, additional, MICHELS, VIRGINIA V., additional, MIRSKY, RHONA, additional, O'BRIEN, PETER C., additional, O'HANLON, GRAHAM M., additional, O'NEILL, GILMORE N., additional, PATERSON, DAVID J., additional, PESTRONK, ALAN, additional, PLEASURE, DAVID, additional, POLLARD, JOHN D., additional, POLYDEFKIS, MICHAEL, additional, POTTUMARTHY, SUDHA, additional, REILLY, MARY M., additional, ROBERTSON, ANDREA, additional, ROMAN, GUSTAVO C., additional, ROWBOTHAM, MICHAEL C., additional, RYAN, MONIQUE M., additional, RYDMARK, MARTIN, additional, SABIN, THOMAS D., additional, SAID, GÉRARD, additional, SAPERSTEIN, DAVID S., additional, SCARAVILLI, FRANCESCO, additional, SCHAUMBURG, HERBERT H., additional, SCHERER, STEVEN S., additional, SCHIFFMANN, RAPHAEL, additional, SCHMELZ, MARTIN, additional, SCOTT, JON J.A., additional, SHEIKH, KAZIM, additional, SHEPHERD, JOHN T., additional, SHY, MICHAEL E., additional, SINGER, WOLFGANG, additional, SMITH, BENN E., additional, SORENSON, ERIC J., additional, SPIES, JUDITH M., additional, STÅLBERG, ERIK V., additional, STEVENS, J. CLARKE, additional, STOLL, GUIDO, additional, SUAREZ, GUILLERMO A., additional, SUTER, UELI, additional, SWIFT, THOMAS R., additional, TAYLOR, BRUCE V., additional, TEFFERI, AYALEW, additional, THIBODEAU, STEPHEN N., additional, THOMAS, P.K., additional, THOMPSON, PHILIP D., additional, THORLAND, ERIK C., additional, TOMLINSON, D.R., additional, TOREBJÖRK, ERIK, additional, TOYKA, KLAUS V., additional, TRONTELJ, JOŽE V., additional, TYLER, KENNETH L., additional, ULFHAKE, B., additional, VANHOUTTE, PAUL M., additional, WANG, ANNABEL K., additional, WARNER, LAURA E., additional, WEBSTER, HENRY DEF., additional, WEERASURIYA, ANANDA, additional, WENDELSCHAFER-CRABB, GWEN, additional, WIJDICKS, EELCO F.M., additional, WILBOURN, ASA J., additional, WILLISON, HUGH J., additional, WINDEBANK, ANTHONY J., additional, WITTE, HARALD, additional, WOOD, JACKIE D., additional, YOUNGE, BRIAN R., additional, and ZOCHODNE, DOUGLAS W., additional

Published
2005
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23. Cryptogenic small-fiber neuropathies: Serum autoantibody binding to trisulfated heparan disaccharide and fibroblast growth factor receptor-3.

Author

Levine, Todd D., Kafaie, Jafar, Zeidman, Lawrence A., Saperstein, David S., Massaquoi, Reyanna, Bland, Ruth J., and Pestronk, Alan

Abstract

Introduction: Causes of small-fiber peripheral neuropathies (SFN) are often undefined. In this study we investigated associations of serum autoantibodies, immunoglobulin G (IgG) vs fibroblast growth factor receptor-3 (FGFR-3), and immunoglobulin M (IgM) vs trisulfated heparan disaccharide (TS-HDS) in cryptogenic SFN.Methods: One hundred fifty-five patients with biopsy-proven SFN and no identified cause for their neuropathy were blindly tested for serum IgM vs TS-HDS and IgG vs FGFR-3.Results: Forty-eight percent of SFN patients had serum antibodies, 37% with IgM vs TS-HDS and 15% with IgG vs FGFR-3. TS-HDS antibodies were more frequent in SFN patients than in controls (P = .0012). Both antibodies were more common in females, and with non-length-dependent nerve pathology. Nintey-two percent of patients with acute-onset SFN had serum IgM vs TS-HDS.Discussion: Autoantibodies directed against TS-HDS and FGFR-3 suggest an immune disorder in otherwise idiopathic SFN. Serum IgM vs TS-HDS may be a marker for SFN with an acute onset. [ABSTRACT FROM AUTHOR]

Published
2020
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24. Diagnosis of mast cell activation syndrome: a global “consensus-2”

Author

Afrin, Lawrence B., Ackerley, Mary B., Bluestein, Linda S., Brewer, Joseph H., Brook, Jill B., Buchanan, Ariana D., Cuni, Jill R., Davey, William P., Dempsey, Tania T., Dorff, Shanda R., Dubravec, Martin S., Guggenheim, Alena G., Hindman, Kimberly J., Hoffman, Bruce, Kaufman, David L., Kratzer, Stephanie J., Lee, Theodore M., Marantz, Mindy S., Maxwell, Andrew J., McCann, Kelly K., McKee, Dwight L., Menk Otto, Laurie, Pace, Laura A., Perkins, Dahra D., Radovsky, Laurie, Raleigh, Mary S., Rapaport, Sonia A., Reinhold, Emma J., Renneker, Mark L., Robinson, William A., Roland, Aaron M., Rosenbloom, E. Scott, Rowe, Peter C., Ruhoy, Ilene S., Saperstein, David S., Schlosser, David A., Schofield, Jill R., Settle, Janet E., Weinstock, Leonard B., Wengenroth, Martina, Westaway, Mark, Xi, Shijun Cindy, and Molderings, Gerhard J.

Abstract

The concept that disease rooted principally in chronic aberrant constitutive and reactive activation of mast cells (MCs), without the gross MC neoplasia in mastocytosis, first emerged in the 1980s, but only in the last decade has recognition of “mast cell activation syndrome” (MCAS) grown significantly. Two principal proposals for diagnostic criteria have emerged. One, originally published in 2012, is labeled by its authors as a “consensus” (re-termed here as “consensus-1”). Another sizable contingent of investigators and practitioners favor a different approach (originally published in 2011, newly termed here as “consensus-2”), resembling “consensus-1” in some respects but differing in others, leading to substantial differences between these proposals in the numbers of patients qualifying for diagnosis (and thus treatment). Overdiagnosis by “consensus-2” criteria has potential to be problematic, but underdiagnosis by “consensus-1” criteria seems the far larger problem given (1) increasing appreciation that MCAS is prevalent (up to 17% of the general population), and (2) most MCAS patients, regardless of illness duration prior to diagnosis, can eventually identify treatment yielding sustained improvement. We analyze these proposals (and others) and suggest that, until careful research provides more definitive answers, diagnosis by either proposal is valid, reasonable, and helpful.

Published
2021
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25. Phase I clinical trial of safety of L-serine for ALS patients

Author

Levine, Todd D., Miller, Robert G., Bradley, Walter G., Moore, Dan H., Saperstein, David S., Flynn, Lynne E., Katz, Jonathan S., Forshew, Dallas A., Metcalf, James S., Banack, Sandra A., and Cox, Paul A.

Abstract

We performed a randomized, double-blind phase I clinical trial for six months on the effects of oral L-serine in patients with ALS. The protocol called for enrollment of patients with a diagnosis of probable or definite ALS, age 18–85 years, disease duration of less than three years and forced vital capacity (FVC) ≥ 60%. Patients were randomly assigned to four different oral twice-daily dose regimens (0.5, 2.5, 7.5, or 15 g/dose). Blood, urine and CSF samples, ALS Functional Rating Scale-Revised (ALSFRS-R) scores and forced vital capacity (FVC) were obtained throughout the trial. Disease progression was compared with matched historical placebo controls from five previous ALS therapeutic trials. Of 20 patients enrolled, one withdrew before receiving study drug and two withdrew with gastro-intestinal problems. Three patients died during the trial. L-serine was generally well tolerated by the patients and L-serine did not appear to accelerate functional decline of patients as measured by slope of their ALSFRS-R scores. Based on this small study, L-serine appears to be generally safe for patients with ALS.

Published
2016
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26. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Author

Gang, Qiang, primary, Bettencourt, Conceição, additional, Machado, Pedro M., additional, Brady, Stefen, additional, Holton, Janice L., additional, Pittman, Alan M., additional, Hughes, Deborah, additional, Healy, Estelle, additional, Parton, Matthew, additional, Hilton-Jones, David, additional, Shieh, Perry B., additional, Needham, Merrilee, additional, Liang, Christina, additional, Zanoteli, Edmar, additional, de Camargo, Leonardo Valente, additional, De Paepe, Boel, additional, De Bleecker, Jan, additional, Shaibani, Aziz, additional, Ripolone, Michela, additional, Violano, Raffaella, additional, Moggio, Maurizio, additional, Barohn, Richard J., additional, Dimachkie, Mazen M., additional, Mora, Marina, additional, Mantegazza, Renato, additional, Zanotti, Simona, additional, Singleton, Andrew B., additional, Hanna, Michael G., additional, Houlden, Henry, additional, Gang, Qiang, additional, Bettencourt, Conceicao, additional, McVey, April L., additional, Pasnoor, Mamatha, additional, Glenn, Melanie, additional, Jawdat, Omar, additional, Statland, Jeffrey, additional, Rico, Gabrielle, additional, Mastaglia, Frank, additional, Dalakas, Marinos C., additional, Biba, Angie, additional, Chinoy, Hector, additional, Lilleker, James B., additional, Lamb, Janine, additional, Platt, Hazel, additional, Cooper, Robert G., additional, Miller, James A.L., additional, Roberts, Mark, additional, Househam, Elizabeth, additional, Hilton, David, additional, Shivane, Aditya, additional, Bartlett, Amy, additional, Kissel, John T., additional, Runk, Heidi, additional, Wicklund, Matthew, additional, Saperstein, David S., additional, and McKinney, Lynette R., additional

Published
2016
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27. Phase I clinical trial of safety of L-serine for ALS patients

Author

Levine, Todd D., primary, Miller, Robert G., additional, Bradley, Walter G., additional, Moore, Dan H., additional, Saperstein, David S., additional, Flynn, Lynne E., additional, Katz, Jonathan S., additional, Forshew, Dallas A., additional, Metcalf, James S., additional, Banack, Sandra A., additional, and Cox, Paul A., additional

Published
2016
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28. Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine

Author

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

Published
2015
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31. Phase I clinical trial of safety of L-serine for ALS patients.

Author

Levine, Todd D., Miller, Robert G., Bradley, Walter G., Moore, Dan H., Saperstein, David S., Flynn, Lynne E., Katz, Jonathan S., Forshew, Dallas A., Metcalf, James S., Banack, Sandra A., and Cox, Paul A.

Subjects
CLINICAL trials, SERINE, MEDICATION safety, AMYOTROPHIC lateral sclerosis treatment, DRUG dosage, THERAPEUTICS
Abstract

We performed a randomized, double-blind phase I clinical trial for six months on the effects of oral L-serine in patients with ALS. The protocol called for enrollment of patients with a diagnosis of probable or definite ALS, age 18–85 years, disease duration of less than three years and forced vital capacity (FVC) ≥ 60%. Patients were randomly assigned to four different oral twice-daily dose regimens (0.5, 2.5, 7.5, or 15 g/dose). Blood, urine and CSF samples, ALS Functional Rating Scale-Revised (ALSFRS-R) scores and forced vital capacity (FVC) were obtained throughout the trial. Disease progression was compared with matched historical placebo controls from five previous ALS therapeutic trials. Of 20 patients enrolled, one withdrew before receiving study drug and two withdrew with gastro-intestinal problems. Three patients died during the trial. L-serine was generally well tolerated by the patients and L-serine did not appear to accelerate functional decline of patients as measured by slope of their ALSFRS-R scores. Based on this small study, L-serine appears to be generally safe for patients with ALS. [ABSTRACT FROM AUTHOR]

Published
2017
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38. Interferon-α/β-mediated innate immune mechanisms in dermatomyositis

Author

Greenberg, Steven A., primary, Pinkus, Jack L., additional, Pinkus, Geraldine S., additional, Burleson, Travis, additional, Sanoudou, Despina, additional, Tawil, Rabi, additional, Barohn, Richard J., additional, Saperstein, David S., additional, Briemberg, Hannah R., additional, Ericsson, Maria, additional, Park, Peter, additional, and Amato, Anthony A., additional

Published
2005
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46. Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Author

Gang, Qiang, Bettencourt, Conceição, Machado, Pedro M., Brady, Stefen, Holton, Janice L., Pittman, Alan M., Hughes, Deborah, Healy, Estelle, Parton, Matthew, Hilton-Jones, David, Shieh, Perry B., Needham, Merrilee, Liang, Christina, Zanoteli, Edmar, de Camargo, Leonardo Valente, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J., Dimachkie, Mazen M., Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Singleton, Andrew B., Hanna, Michael G., Houlden, Henry, Bettencourt, Conceicao, McVey, April L., Pasnoor, Mamatha, Glenn, Melanie, Jawdat, Omar, Statland, Jeffrey, Rico, Gabrielle, Mastaglia, Frank, Dalakas, Marinos C., Biba, Angie, Chinoy, Hector, Lilleker, James B., Lamb, Janine, Platt, Hazel, Cooper, Robert G., Miller, James A.L., Roberts, Mark, Househam, Elizabeth, Hilton, David, Shivane, Aditya, Bartlett, Amy, Kissel, John T., Runk, Heidi, Wicklund, Matthew, Saperstein, David S., and McKinney, Lynette R.

Subjects
Sporadic inclusion body myositis, Ageing, Neuroscience(all), Clinical Neurology, SQSTM1, Geriatrics and Gerontology, Genetic risk factor, sIBM, VCP, Developmental Biology
Abstract

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome expression analysis was performed in patients with genetic variants of interest. We identified 6 rare missense variants in the SQSTM1 and VCP in 7 sIBM patients (4.0%). Two variants, the SQSTM1 p.G194R and the VCP p.R159C, were significantly overrepresented in this sIBM cohort compared with controls. Five of these variants had been previously reported in patients with degenerative diseases. The messenger RNA levels of major histocompatibility complex genes were upregulated, this elevation being more pronounced in SQSTM1 patient group. We report for the first time potentially pathogenic SQSTM1 variants and expand the spectrum of VCP variants in sIBM. These data suggest that defects in neurodegenerative pathways may confer genetic susceptibility to sIBM and reinforce the mechanistic overlap in these neurodegenerative disorders.

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50. Acquired immune demyelinating neuropathies.

Author

Dimachkie MM and Saperstein DS

Subjects
Aged, Diagnosis, Differential, Female, Humans, Treatment Outcome, Autoimmune Diseases complications, Autoimmune Diseases diagnosis, Autoimmune Diseases therapy, Polyneuropathies complications, Polyneuropathies diagnosis, Polyneuropathies therapy
Abstract

Purpose of Review: Acquired immune demyelinating neuropathies refer to a group of disorders that share overlapping sensory, motor, and autonomic clinical, laboratory, and electrodiagnostic features. It is important to recognize acquired immune demyelinating neuropathies as they are generally responsive to immunosuppressive or immunomodulatory therapies., Recent Findings: This article reviews recently developed early prognostic tools in Guillain-Barré syndrome and discusses the evolving understanding of chronic demyelinating phenotypes with differing treatment responsiveness., Summary: While weakness and numbness progress over 2 to 4 weeks in Guillain-Barré syndrome, they continue to evolve beyond 8 weeks in chronic inflammatory demyelinating polyradiculoneuropathy and over 4 to 8 weeks in subacute inflammatory demyelinating polyradiculoneuropathy. Acquired immune demyelinating neuropathies present uncommonly as variants with predominance of ocular, bulbar, sensory, autonomic, or motor manifestations in addition to regional variants, such as paraparetic acquired immune demyelinating neuropathies. Establishing the correct diagnosis is important as these immune disorders differ in response to corticosteroids and other immunosuppressive therapies.

Published
2014
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