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Your search keyword '"Manisha, Balwani"' showing total 10 results
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10 results on '"Manisha, Balwani"'

2. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

Author

Manisha Balwani, Hetanshi Naik, Jessica R. Overbey, Herbert L. Bonkovsky, D. Montgomery Bissell, Bruce Wang, John D. Phillips, Robert J. Desnick, and Karl E. Anderson

Subjects
Erythropoietic protoporphyria, X-linked protoporphyria, Photosensitivity, Clinical trial, Iron, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

The use of iron supplementation for anemia in erythropoietic protoporphyria (EPP) is controversial with both benefit and deterioration reported in single case reports. There is no systematic study to evaluate the benefits or risks of iron supplementation in these patients. We assessed the potential efficacy of oral iron therapy in decreasing erythrocyte protoporphyrin (ePPIX) levels in patients with EPP or X-linked protoporphyria (XLP) and low ferritin in an open-label, single-arm, interventional study. Sixteen patients (≥18 years) with EPP or XLP confirmed by biochemical and/or genetic testing, and serum ferritin ≤30 ng/mL were enrolled. Baseline testing included iron studies, normal hepatic function, and elevated plasma porphyrins and ePPIX levels. Oral ferrous sulfate 325 mg twice daily was administered for 12 months. The primary efficacy outcome was the relative difference in total ePPIX level between baseline and 12 months after starting treatment with iron. Secondary measures included improvement in serum ferritin, plasma porphyrins, and clinical symptoms. Thirteen patients had EPP (8 females, 5 males) and 3 had XLP (all females) and the mean age of participants was 38.8 years (SD 14.5). Ten patients completed all study visits limiting interpretation of results. In EPP patients, a transient increase in ePPIX levels was observed at 3 months in 9 of 12 (75%) patients. Iron was discontinued in 2 of these patients after meeting the protocol stopping rule of a 35% increase in ePPIX. Seven patients withdrew before study end. Ferritin levels increased on iron replacement indicating an improvement in iron status. A decrease in ePPIX was seen in both XLP patients who completed the study (relative difference of 0.67 and 0.5 respectively). No substantial changes in ePPIX were seen in EPP patients at the end of the study (n = 8; median relative difference: -0.21 (IQR: −0.44, 0.05). The most common side effects of iron treatment were gastrointestinal symptoms. Hepatic function remained normal throughout the study. Our study showed that oral iron therapy repletes iron stores and transiently increases ePPIX in some EPP patients, perhaps due to a transient increase in erythropoiesis, and may decrease ePPIX in XLP patients. Further studies are needed to better define the role of iron repletion in EPP.Trial registration: NCT02979249.

Published
2022
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3. The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Author

Ashlee R. Stiles, Erin Huggins, Luca Fierro, Seung-Hye Jung, Manisha Balwani, and Priya S. Kishnani

Subjects
Glucosylsphingosine, Lyso-Gb1, Type 1 Gaucher disease, Pediatric, p.N409S, Monitoring, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history. We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine monitoring in guiding treatment initiation.

Published
2021
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4. The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Author

Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, and Manisha Balwani

Subjects
Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we report our experience with 14 patients with this genotype. Our data suggests that most patients with N370S/R496H present with mild manifestations and often do not require treatment. This information is important for counseling newly diagnosed patients and GD1 carrier couples. Keywords: Gaucher disease, Genetic counseling, Genotype-phenotype correlations, Carrier screening, Pre symptomatic

Published
2020
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5. Parkinson's disease prevalence in Fabry disease: A survey study

Author

Adina H. Wise, Amy Yang, Hetanshi Naik, Chanan Stauffer, Natasha Zeid, Christopher Liong, Manisha Balwani, Robert J. Desnick, and Roy N. Alcalay

Subjects
Parkinson's disease, Fabry disease, Lysosomal storage disorder, Alpha-galactosidase A, GLA, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract

Recent research has suggested a possible link between Parkinson's disease (PD) and Fabry disease. To test this relationship, we administered a self-report and family history questionnaire to determine the prevalence of PD in Fabry disease patients and family members with likely pathogenic alpha-galactosidase A (GLA) mutations. A total of 90 Fabry patients (77 from the online survey and 13 from the Icahn School of Medicine at Mount Sinai (ISMMS)) were included in the analysis. Two of the Fabry disease patients who completed the online survey were diagnosed with PD (2/90, 2.2%). Among probands older than 60, 8.3% (2/24) were diagnosed with PD. Using Kaplan Meier survival analysis, the age-specific risk of PD by age 70 was 11.1%. Family history was available on 72 Fabry families from the online study and 9 Fabry families from ISMMS. Among these 81 families, 6 (7.4%) had one first degree relative who fit the criteria for a conservative diagnosis of PD. The results of this study suggest that there may be an increased risk of developing PD in individuals with GLA mutations, but these findings should be interpreted with caution given the limitations of the study design.

Published
2018
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6. EIGHTEEN-MONTH INTERIM ANALYSIS OF EFFICACY AND SAFETY OF GIVOSIRAN, AN RNAI THERAPEUTIC FOR ACUTE HEPATIC PORPHYRIA, IN THE ENVISION OPEN LABEL EXTENSION

Author

David J. Kuter, S Rhyee, Charles J. Parker, Manisha Balwani, Samuel M. Silver, David C. Rees, Sioban Keel, Paolo Ventura, Ulrich Stölzel, and Laurent Gouya

Subjects
Acute hepatic porphyria, medicine.medical_specialty, Nausea, business.industry, Attack rate, Phases of clinical research, Hematology, Interim analysis, Placebo, medicine.disease, Porphyria, Internal medicine, medicine, Immunology and Allergy, Diseases of the blood and blood-forming organs, medicine.symptom, RC633-647.5, business, Adverse effect
Abstract

Introduction Acute hepatic porphyria (AHP) is a family of rare genetic diseases due to enzyme defects in hepatic heme biosynthesis. ENVISION is an ongoing phase 3 study, evaluating efficacy and safety of givosiran in symptomatic AHP patients. Objective Describe efficacy and safety resuts of the ENVISION 18-month OLE period. Methods Exploratory efficacy (composite porphyria attacks, ALA/PBG levels, hemin use, and missed days of work) and safety measures in the OLE were assessed. Analyses were descriptive and represent the timepoint after which all patients completed at least their Month 18 visit (01/10/2020). Results Ninety-four patients completed the DB period, and 93 patients entered the OLE (placebo/givosiran = 46; givosiran/givosiran = 47). Mean exposure to givosiran was 12.97 [SD = 3.6] months for placebo/givosiran and 18.86 [3.6] months for givosiran/givosiran, with maximum exposure of 25.1 months. Continued treatment in givosiran/givosiran patients led to a median annualized attack rate (AAR) of 0.58 (range: 0–16.2) through Month 18. Patients in the placebo/givosiran group had an AAR of 1.62 (range: 0–11.8) after receiving givosiran for ≥12 months during the OLE period, compared with 10.65 (range: 0–51.6) whilst receiving placebo during the 6-month DB period. Sustained ALA/PBG lowering during the OLE was accompanied by sustained reductions in hemin use, and more than half of the placebo/givosiran patients experienced 0 days of hemin use. There was a decrease in the number of work days missed in the past 4 weeks at Month 6 (mean = 6.7 days [SD = 7.8], n = 20/46) compared with Month 18 (2.5 [5.1], n = 23/46), for patients in the placebo/givosiran group who were able to work. The most common related adverse events (AEs) observed during givosiran treatment were injection site reactions, nausea and fatigue. Hepatic and renal AEs were both reported in 17% of patients each during givosiran treatment. No new safety concerns occurred in the OLE period. Conclusion In the ongoing OLE period of the ENVISION study, patients receiving long-term treatment with givosiran demonstrated a durable response in clinical efficacy, across a wide range of clinical parameters. Following the initial 6 months of givosiran treatment during the OLE, placebo/givosiran patients had a similar clinical response to that observed in givosiran/givosiran patients in the OLE period through Month 18. The safety profile of givosiran remained acceptable and consistent with that previously observed.

Published
2021

7. The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease

Author

Luca Fierro, Ashlee R. Stiles, Manisha Balwani, Priya S. Kishnani, Seung-Hye Jung, and Erin Huggins

Subjects
Oncology, Medicine (General), medicine.medical_specialty, Treatment response, Monitoring, QH301-705.5, Case Report, Disease, Lyso-Gb1, 03 medical and health sciences, R5-920, 0302 clinical medicine, Endocrinology, Internal medicine, Genetics, medicine, Biology (General), Family history, Molecular Biology, Pediatric, 0303 health sciences, Type 1 Gaucher disease, business.industry, 030305 genetics & heredity, Disease progression, Type 1 Gaucher Disease, p.N409S, Glucosylsphingosine, Biomarker (medicine), Treatment decision making, business, 030217 neurology & neurosurgery
Abstract

Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role in guiding treatment decisions in pre-symptomatic patients identified at birth or due to a positive family history. We present two pediatric patients with GD1 and highlight the utility of glucosylsphingosine monitoring in guiding treatment initiation.

Published
2021

10. Contributors

Author

Jon S. Abramson, Mark J. Abzug, John J. Aiken, H. Hesham A-kader, Cezmi A. Akdis, Harold Alderman, Ramin Alemzadeh, Evaline A. Alessandrini, Omar Ali, Namasivayam Ambalavanan, Karl E. Anderson, Peter M. Anderson, Kelly K. Anthony, Alia Y. Antoon, Stacy P. Ardoin, Carola A.S. Arndt, Stephen S. Arnon, Stephen C. Aronoff, David M. Asher, Barbara L. Asselin, Joann L. Ater, Dan Atkins, Erika F. Augustine, Marilyn Augustyn, Ellis D. Avner, Parvin H. Azimi, Carlos A. Bacino, Robert N. Baldassano, Christina Bales, William F. Balistreri, Robert S. Baltimore, Manisha Balwani, Shahida Baqar, Christine E. Barron, Dorsey M. Bass, Mark L. Batshaw, Richard E. Behrman, Michael J. Bell, John W. Belmont, Daniel K. Benjamin, Michael J. Bennett, Daniel Bernstein, Jatinder Bhatia, Zulfiqar Ahmed Bhutta, Leslie G. Biesecker, James Birmingham, Samra S. Blanchard, Ronald Blanton, Archie Bleyer, C.D.R. Lynelle M. Boamah, Steven R. Boas, Thomas F. Boat, Walter Bockting, Mark Boguniewicz, Daniel J. Bonthius, Laurence A. Boxer, Amanda M. Brandow, David Branski, David T. Breault, Rebecca H. Buckley, Cynthia Etzler Budek, E. Stephen Buescher, Gale R. Burstein, Amaya Lopez Bustinduy, Mitchell S. Cairo, Bruce M. Camitta, Angela Jean Peck Campbell, Rebecca G. Carey, Waldemar A. Carlo, Robert B. Carrigan, Mary T. Caserta, Ellen Gould Chadwick, Lisa J. Chamberlain, Jennifer I. Chapman, Ira M. Cheifetz, Wassim Chemaitilly, Sharon F. Chen, Yuan-Tsong Chen, Russell W. Chesney, Jennifer A. Chiriboga, Robert D. Christensen, Andrew Chu, Michael J. Chusid, Theodore J. Cieslak, Jeff A. Clark, Thomas G. Cleary, John David Clemens, Joanna S. Cohen, Mitchell B. Cohen, Pinchas Cohen, Michael Cohen-Wolkowiez, Robert A. Colbert, F. Sessions Cole, Joanna C.M. Cole, John L. Colombo, Amber R. Cooper, Ronina A. Covar, Barbara Cromer, James E. Crowe, Natoshia Raishevich Cunningham, Steven J. Czinn, Toni Darville, Robert S. Daum, Richard S. Davidson, H. Dele Davies, Peter S. Dayan, Michael R. DeBaun, Guenet H. Degaffe, David R. DeMaso, Mark R. Denison, Arlene E. Dent, Nirupama K. DeSilva, Robert J. Desnick, Gabrielle deVeber, Esi Morgan DeWitt, Chetan Anil Dhamne, Anil Dhawan, Harry Dietz, Lydia J. Donoghue, Patricia A. Donohoue, Mary K. Donovan, John P. Dormans, Daniel A. Doyle, Jefferson Doyle, Stephen C. Dreskin, Denis S. Drummond, Howard Dubowitz, J. Stephen Dumler, Janet Duncan, Paula M. Duncan, LauraLe Dyner, Michael G. Earing, Elizabeth A. Edgerton, Marie Egan, Jack S. Elder, Sara B. Eleoff, Dianne S. Elfenbein, Stephen C. Eppes, Michele Burns Ewald, Jessica K. Fairley, Susan Feigelman, Marianne E. Felice, Eric I. Felner, Edward Fels, Thomas Ferkol, Jonathan D. Finder, Kristin N. Fiorino, David M. Fleece, Patricia M. Flynn, Joel A. Forman, Michael M. Frank, Melvin H. Freedman, Melissa Frei-Jones, Jared E. Friedman, Sheila Gahagan, Paula Gardiner, Luigi Garibaldi, Gregory M. Gauthier, Abraham Gedalia, Matthew J. Gelmini, Michael A. Gerber, K. Michael Gibson, Mark Gibson, Francis Gigliotti, Walter S. Gilliam, Janet R. Gilsdorf, Charles M. Ginsburg, Frances P. Glascoe, Donald A. Goldmann, Denise M. Goodman, Marc H. Gorelick, Gary J. Gosselin, Jane M. Gould, Olivier Goulet, Dan M. Granoff, Michael Green, Thomas P. Green, Larry A. Greenbaum, Marie Michelle Grino, Andrew B. Grossman, David C. Grossman, Alfredo Guarino, Lisa R. Hackney, Gabriel G. Haddad, Joseph Haddad, Joseph F. Hagan, Scott B. Halstead, Margaret R. Hammerschlag, Aaron Hamvas, James C. Harris, Mary E. Hartman, David B. Haslam, Fern R. Hauck, Gregory F. Hayden, Jacqueline T. Hecht, Sabrina M. Heidemann, J. Owen Hendley, Fred M. Henretig, Gloria P. Heresi, Andrew D. Hershey, Cynthia E. Herzog, Jessica Hochberg, Lauren D. Holinger, Jeffrey D. Hord, B. David Horn, William A. Horton, Harish S. Hosalkar, Hidekazu Hosono, Peter J. Hotez, Michelle S. Howenstine, Heather G. Huddleston, Vicki Huff, Denise Hug, Winston W. Huh, Carl E. Hunt, Anna Klaudia Hunter, Patricia Ibeziako, Richard F. Jacobs, Peter Jensen, Hal B. Jenson, Chandy C. John, Michael V. Johnston, Richard B. Johnston, Bridgette L. Jones, James F. Jones, Marsha Joselow, Anupama Kalaskar, Linda Kaljee, Deepak Kamat, Alvina R. Kansra, Sheldon L. Kaplan, Emily R. Katz, James W. Kazura, Virginia Keane, Gregory L. Kearns, Desmond P. Kelly, Judith Kelsen, Kathi J. Kemper, Melissa Kennedy, Eitan Kerem, Joseph E. Kerschner, Seema Khan, Young-Jee Kim, Charles H. King, Stephen L. Kinsman, Adam Kirton, Priya S. Kishnani, Nora T. Kizer, Martin B. Kleiman, Bruce L. Klein, Bruce S. Klein, Michael D. Klein, Robert M. Kliegman, William C. Koch, Patrick M. Kochanek, Eric Kodish, Stephan A. Kohlhoff, Elliot J. Krane, Peter J. Krause, Richard E. Kreipe, Steven E. Krug, John F. Kuttesch, Jennifer M. Kwon, Catherine S. Lachenauer, Stephan Ladisch, Stephen LaFranchi, Oren Lakser, Marc B. Lande, Philip J. Landrigan, Gregory L. Landry, Wendy G. Lane, Philip S. LaRussa, Brendan Lee, Chul Lee, K. Jane Lee, J. Steven Leeder, Rebecca K. Lehman, Michael J. Lentze, Norma B. Lerner, Steven Lestrud, Donald Y.M. Leung, Chris A. Liacouras, Susanne Liewer, Andrew H. Liu, Stanley F. Lo, Franco Locatelli, Sarah S. Long, Anna Lena Lopez, Steven V. Lossef, Jennifer A. Lowry, Kerith Lucco, G. Reid Lyon, Prashant V. Mahajan, Akhil Maheshwari, Joseph A. Majzoub, Asim Maqbool, Ashley M. Maranich, Mona Marin, Joan C. Marini, Morri Markowitz, Kevin P. Marks, Stacene R. Maroushek, Wilbert H. Mason, Christopher Mastropietro, Kimberlee M. Matalon, Reuben K. Matalon, Robert Mazor, Susanna A. McColley, Margaret M. McGovern, Heather S. McLean, Rima McLeod, Peter C. Melby, Joseph John Melvin, Diane F. Merritt, Ethan A. Mezoff, Marian G. Michaels, Alexander G. Miethke, Mohamad A. Mikati, Henry Milgrom, E. Kathryn Miller, Jonathan W. Mink, Grant A. Mitchell, Robert R. Montgomery, Joseph G. Morelli, Anna-Barbara Moscicki, Hugo W. Moser, Kathryn D. Moyer, James R. Murphy, Timothy F. Murphy, Thomas S. Murray, Mindo J. Natale, William A. Neal, Jayne Ness, Kathleen A. Neville, Mary A. Nevin, Jane W. Newburger, Peter E. Newburger, Linda S. Nield, Zehava Noah, Lawrence M. Nogee, Robert L. Norris, Stephen K. Obaro, Makram Obeid, Theresa J. Ochoa, Katherine A. O'Donnell, Robin K. Ohls, Jean-Marie Okwo-Bele, Keith T. Oldham, Scott E. Olitsky, John Olsson, Susan R. Orenstein, Walter A. Orenstein, Judith A. Owens, Charles H. Packman, Michael J. Painter, Priya Pais, Cynthia G. Pan, Vijay Pannikar, Diane E. Pappas, Anjali Parish, John S. Parks, Laura A. Parks, Maria Jevitz Patterson, Pallavi P. Patwari, Timothy R. Peters, Larry K. Pickering, Misha L. Pless, Laura S. Plummer, Craig C. Porter, Dwight A. Powell, David T. Price, Charles G. Prober, Linda Quan, Elisabeth H. Quint, C. Egla Rabinovich, Leslie J. Raffini, Denia Ramirez-Montealegre, Giuseppe Raviola, Ann M. Reed, Harold L. Rekate, Megan E. Reller, Gary Remafedi, Jorge D. Reyes, Geoffrey Rezvani, Iraj Rezvani, A. Kim Ritchey, Frederick P. Rivara, Angela Byun Robinson, Luise E. Rogg, Genie E. Roosevelt, David R. Rosenberg, Melissa Beth Rosenberg, David S. Rosenblatt, Cindy Ganis Roskind, Mary M. Rotar, Ranna A. Rozenfeld, Sarah Zieber Rush, Colleen A. Ryan, H.P.S. Sachdev, Ramesh C. Sachdeva, Mustafa Sahin, Robert A. Salata, Denise A. Salerno, Edsel Maurice T. Salvana, Hugh A. Sampson, Thomas J. Sandora, Tracy Sandritter, Wudbhav N. Sankar, Ajit Ashok Sarnaik, Ashok P. Sarnaik, Harvey B. Sarnat, Minnie M. Sarwal, Mary Saunders, Laura E. Schanberg, Mark R. Schleiss, Nina F. Schor, Bill J. Schroeder, Robert L. Schum, Gordon E. Schutze, Daryl A. Scott, J. Paul Scott, Theodore C. Sectish, George B. Segel, Kriti Sehgal, Ernest G. Seidman, Janet R. Serwint, Dheeraj Shah, Raanan Shamir, Bruce K. Shapiro, Richard J. Shaw, Bennett A. Shaywitz, Sally E. Shaywitz, Meera Shekar, Elena Shephard, Philip M. Sherman, Benjamin L. Shneider, Scott H. Sicherer, Richard Sills, Mark D. Simms, Eric A.F. Simões, Thomas L. Slovis, P. Brian Smith, Mary Beth F. Son, Laura Stout Sosinsky, Joseph D. Spahn, Mark A. Sperling, Robert Spicer, David A. Spiegel, Helen Spoudeas, Jürgen Spranger, Rajasree Sreedharan, Raman Sreedharan, Shawn J. Stafford, Margaret M. Stager, Sergio Stagno, Virginia A. Stallings, Lawrence R. Stanberry, Charles A. Stanley, Bonita F. Stanton, Jeffrey R. Starke, Merrill Stass-Isern, Barbara W. Stechenberg, Leonard D. Stein, William J. Steinbach, Nicolas Stettler, Barbara J. Stoll, Gregory A. Storch, Ronald G. Strauss, Frederick J. Suchy, Karen Summar, Moira Szilagyi, Norman Tinanoff, James K. Todd, Lucy S. Tompkins, Richard L. Tower, Riccardo Troncone, Amanda A. Trott, David G. Tubergen, David A. Turner, Ronald B. Turner, Christina Ullrich, George F. Van Hare, Jakko van Ingen, Heather A. Van Mater, Dick van Soolingen, Scott K. Van Why, Pankhuree Vandana, Douglas Vanderbilt, Jon A. Vanderhoof, Andrea Velardi, Elliott Vichinsky, Linda A. Waggoner-Fountain, Steven G. Waguespack, David M. Walker, Heather J. Walter, Stephanie Ware, Kimberly Danieli Watts, Ian M. Waxman, Debra E. Weese-Mayer, Kathryn Weise, Martin E. Weisse, Lawrence Wells, Jessica Wen, Steven L. Werlin, Michael R. Wessels, Ralph F. Wetmore, Randall C. Wetzel, Isaiah D. Wexler, Perrin C. White, John V. Williams, Rodney E. Willoughby, Samantha L. Wilson, Glenna B. Winnie, Paul H. Wise, Laila Woc-Colburn, Joanne Wolfe, Cynthia J. Wong, Laura L. Worth, Joseph L. Wright, Peter F. Wright, Terry W. Wright, Eveline Y. Wu, Anthony Wynshaw-Boris, Nada Yazigi, Ram Yogev, Marc Yudkoff, Peter E. Zage, Anita K.M. Zaidi, Lonnie K. Zeltzer, Maija H. Zile, Peter Zimmer, and Barry Zuckerman

Published
2011
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