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1. 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).

Author

Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Byrne, Barry, Claeys, Kristl, Díaz-Manera, Jordi, Laforêt, Pascal, Roberts, Mark, Toscano, Antonio, van der Ploeg, Ans, Castelli, Jeff, Goldman, Mitchell, Holdbrook, Fred, Sitaraman Das, Sheela, Wasfi, Yasmine, and Mozaffar, Tahseen

Subjects
n-butyldeoxynojirimycin, Alpha glucosidase, Glycogen storage disease type II, Lysosomal storage disorders, Myozyme, Humans, Male, Female, Glycogen Storage Disease Type II, Middle Aged, Adult, 1-Deoxynojirimycin, Double-Blind Method, Enzyme Replacement Therapy, alpha-Glucosidases, Drug Therapy, Combination, Treatment Outcome, Aged, Enzyme Inhibitors
Abstract

The phase III double-blind PROPEL study compared the novel two-component therapy cipaglucosidase alfa + miglustat (cipa + mig) with alglucosidase alfa + placebo (alg + pbo) in adults with late-onset Pompe disease (LOPD). This ongoing open-label extension (OLE; NCT04138277) evaluates long-term safety and efficacy of cipa + mig. Outcomes include 6-min walk distance (6MWD), forced vital capacity (FVC), creatine kinase (CK) and hexose tetrasaccharide (Hex4) levels, patient-reported outcomes and safety. Data are reported as change from PROPEL baseline to OLE week 52 (104 weeks post-PROPEL baseline). Of 118 patients treated in the OLE, 81 continued cipa + mig treatment from PROPEL (cipa + mig group; 61 enzyme replacement therapy [ERT] experienced prior to PROPEL; 20 ERT naïve) and 37 switched from alg + pbo to cipa + mig (switch group; 29 ERT experienced; 8 ERT naive). Mean (standard deviation [SD]) change in % predicted 6MWD from baseline to week 104 was + 3.1 (8.1) for cipa + mig and - 0.5 (7.8) for the ERT-experienced switch group, and + 8.6 (8.6) for cipa + mig and + 8.9 (11.7) for the ERT-naïve switch group. Mean (SD) change in % predicted FVC was - 0.6 (7.5) for cipa + mig and - 3.8 (6.2) for the ERT-experienced switch group, and - 4.8 (6.5) and - 3.1 (6.7), respectively, in ERT-naïve patients. CK and Hex4 levels improved in both treatment groups by week 104 with cipa + mig treatment. Three patients discontinued the OLE due to infusion-associated reactions. No new safety signals were identified. Cipa + mig treatment up to 104 weeks was associated with overall maintained improvements (6MWD, biomarkers) or stabilization (FVC) from baseline with continued durability, and was well tolerated, supporting long-term benefits for patients with LOPD.Trial registration number: NCT04138277; trial start date: December 18, 2019.

Published
2024

2. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

Author

Byrne, Barry, Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Clemens, Paula, Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans, Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida, Johnson, Franklin, Das, Sheela, Wasfi, Yasmine, and Mozaffar, Tahseen

Subjects
n-Butyldeoxynojirimycin, Alpha glucosidases, Glycogen storage disease type II, Lysosomal storage diseases, Myozyme, Pharmacokinetics, Adult, Humans, Glycogen Storage Disease Type II, Treatment Outcome, alpha-Glucosidases, Indoles, Enzyme Replacement Therapy, Propionates, 1-Deoxynojirimycin
Abstract

Cipaglucosidase alfa plus miglustat (cipa + mig) is a novel, two-component therapy for Pompe disease. We report data from the Phase I/II ATB200-02 study for up to 48 months of treatment. Four adult cohorts, including one non-ambulatory ERT-experienced (n = 6) and three ambulatory cohorts, (two enzyme replacement therapy [ERT]-experienced cohorts [2-6 years (n = 11) and ≥ 7 years (n = 6)]), one ERT-naïve cohort (n = 6), received 20 mg/kg intravenous-infused cipa plus 260 mg oral mig biweekly. Change from baseline (CFBL) for multiple efficacy endpoints at 12, 24, 36, and 48 months, pharmacodynamics, pharmacokinetics, safety, and immunogenicity data were assessed. Six-minute walking distance (% predicted) improved at 12, 24, 36, and 48 months: pooled ambulatory ERT-experienced cohorts, mean(± standard deviation [SD]) CFBL: 6.1(± 7.84), n = 16; 5.4(± 10.56), n = 13; 3.4(± 14.66), n = 12; 5.9(± 17.36), n = 9, respectively; ERT-naïve cohort: 10.7(± 3.93), n = 6; 11.0(± 5.06), n = 6; 9.0(± 7.98), n = 5; 11.7(± 7.69), n = 4, respectively. Percent predicted forced vital capacity was generally stable in ERT-experienced cohorts, mean(± SD) CFBL - 1.2(± 5.95), n = 16; 1.0(± 7.96), n = 13; - 0.3(± 6.68), n = 10; 1.0(± 6.42), n = 6, respectively, and improved in the ERT-naïve cohort: 3.2(± 8.42), n = 6; 4.7(± 5.09), n = 6; 6.2(± 3.35), n = 5; 8.3(± 4.50), n = 4, respectively. Over 48 months, CK and Hex4 biomarkers improved in ambulatory cohorts. Overall, cipa + mig was well tolerated with a safety profile like alglucosidase alfa. ATB200-02 results show the potential benefits of cipa + mig as a long-term treatment option for Pompe disease. Trial registration number: NCT02675465 January 26, 2016.

Published
2024

3. Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.

Author

Gutiérrez-Solana, Luis, Ruiz-Garcia, Matilde, Jones, Simon, Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Hale, Michael, Wu, Yuna, Yee, Karen, Whiteman, David, Alexanderian, David, Muenzer, Joseph, Burton, Barbara, and Harmatz, Paul

Subjects
Cognitive impairment, Enzyme replacement therapy, Idursulfase, Intrathecal, Mucopolysaccharidosis II (MPS II), Neuronopathic, Child, Child, Preschool, Humans, Infant, Newborn, Enzyme Replacement Therapy, Iduronate Sulfatase, Iduronic Acid, Mucopolysaccharidosis II
Abstract

Enzyme replacement therapy with weekly infused intravenous (IV) idursulfase is effective in treating somatic symptoms of mucopolysaccharidosis II (MPS II; Hunter syndrome). A formulation of idursulfase for intrathecal administration (idursulfase-IT) is under investigation for the treatment of neuronopathic MPS II. Here, we report 36-month data from the open-label extension (NCT02412787) of a phase 2/3, randomized, controlled study (HGT-HIT-094; NCT02055118) that assessed the safety and efficacy of monthly idursulfase-IT 10 mg in addition to weekly IV idursulfase on cognitive function in children older than 3 years with MPS II and mild-to-moderate cognitive impairment. Participants were also enrolled in this extension from a linked non-randomized sub-study of children younger than 3 years at the start of idursulfase-IT therapy. The extension safety population comprised 56 patients who received idursulfase-IT 10 mg once a month (or age-adjusted dose for sub-study patients) plus IV idursulfase (0.5 mg/kg) once a week. Idursulfase-IT was generally well tolerated over the cumulative treatment period of up to 36 months. Overall, 25.0% of patients had at least one adverse event (AE) related to idursulfase-IT; most treatment-emergent AEs were mild in severity. Of serious AEs (reported by 76.8% patients), none were considered related to idursulfase-IT treatment. There were no deaths or discontinuations owing to AEs. Secondary efficacy analyses (in patients younger than 6 years at phase 2/3 study baseline; n = 40) indicated a trend for improved Differential Ability Scale-II (DAS-II) General Conceptual Ability (GCA) scores in the early idursulfase-IT versus delayed idursulfase-IT group (treatment difference over 36 months from phase 2/3 study baseline: least-squares mean, 6.8 [90% confidence interval: -2.1, 15.8; p = 0.2064]). Post hoc analyses of DAS-II GCA scores by genotype revealed a clinically meaningful treatment effect in patients younger than 6 years with missense variants of the iduronate-2-sulfatase gene (IDS) (least-squares mean [standard error] treatment difference over 36 months, 12.3 [7.24]). These long-term data further suggest the benefits of idursulfase-IT in the treatment of neurocognitive dysfunction in some patients with MPS II. After many years of extensive review and regulatory discussions, the data were found to be insufficient to meet the evidentiary standard to support regulatory filings.

Published
2022

4. Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.

Author

Muenzer, Joseph, Burton, Barbara, Harmatz, Paul, Gutiérrez-Solana, Luis, Ruiz-Garcia, Matilde, Jones, Simon, Guffon, Nathalie, Inbar-Feigenberg, Michal, Bratkovic, Drago, Hale, Michael, Wu, Yuna, Yee, Karen, Whiteman, David, and Alexanderian, David

Subjects
Cognitive impairment, Idursulfase, Intrathecal, MPS II, Mucopolysaccharidosis II, Child, Child, Preschool, Humans, Enzyme Replacement Therapy, Glycosaminoglycans, Iduronate Sulfatase, Iduronic Acid, Mucopolysaccharidosis II, Multiple Myeloma
Abstract

Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have cognitive impairment. This phase 2/3, randomized, controlled, open-label, multicenter study (NCT02055118) investigated the effects of intrathecally administered idursulfase-IT on cognitive function in patients with MPS II. Children older than 3 years with MPS II and mild-to-moderate cognitive impairment (assessed by Differential Ability Scales-II [DAS-II], General Conceptual Ability [GCA] score) who had tolerated intravenous idursulfase for at least 4 months were randomly assigned (2:1) to monthly idursulfase-IT 10 mg (n = 34) via an intrathecal drug delivery device (IDDD; or by lumbar puncture) or no idursulfase-IT treatment (n = 15) for 52 weeks. All patients continued to receive weekly intravenous idursulfase 0.5 mg/kg as standard of care. Of 49 randomized patients, 47 completed the study (two patients receiving idursulfase-IT discontinued). The primary endpoint (change from baseline in DAS-II GCA score at week 52 in a linear mixed-effects model for repeated measures analysis) was not met: although there was a smaller decrease in DAS-II GCA scores with idursulfase-IT than with no idursulfase-IT at week 52, this was not significant (least-squares mean treatment difference [95% confidence interval], 3.0 [-7.3, 13.3]; p = 0.5669). Changes from baseline in Vineland Adaptive Behavioral Scales-II Adaptive Behavior Composite scores at week 52 (key secondary endpoint) were similar in the idursulfase-IT (n = 31) and no idursulfase-IT (n = 14) groups. There were trends towards a potential positive effect of idursulfase-IT across DAS-II composite, cluster, and subtest scores, notably in patients younger than 6 years at baseline. In a post hoc analysis, there was a significant (p = 0.0174), clinically meaningful difference in change from baseline in DAS-II GCA scores at week 52 with idursulfase-IT (n = 13) versus no idursulfase-IT (n = 6) among those younger than 6 years with missense iduronate-2-sulfatase gene variants. Overall, idursulfase-IT reduced cerebrospinal glycosaminoglycan levels from baseline by 72.0% at week 52. Idursulfase-IT was generally well tolerated. These data suggest potential benefits of idursulfase-IT in the treatment of cognitive impairment in some patients with neuronopathic MPS II. After many years of extensive review and regulatory discussions, the data were found to be insufficient to meet the evidentiary standard to support regulatory filings.

Published
2022

5. Effect Size Analysis of Cipaglucosidase Alfa Plus Miglustat Versus Alglucosidase Alfa in ERT-experienced Adults with Late-onset Pompe Disease in PROPEL (S21.003)

Author

Kushlaf, Hani, primary, Bratkovic, Drago, additional, Byrne, Barry, additional, Claeys, Kristl, additional, Diaz-Manera, Jordi, additional, Dimachkie, Mazen, additional, Kishnani, Priya, additional, Roberts, Mark, additional, Toscano, Antonio, additional, Castelli, Jeff, additional, Holdbrook, Frederick, additional, Das, Sheela, additional, Wasfi, Yasmine, additional, Schoser, Benedikt, additional, and Mozaffar, Tahseen, additional

Published
2024
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9. Fabry‐specific treatment in Australia: time to align eligibility criteria with international best practices.

Author

Nicholls, Kathleen, Denaro, Charles, Tchan, Michel, Ellaway, Carolyn, Bratkovic, Drago, Campbell, Sheridan, Fookes, Megan, and Thomas, Mark

Subjects
ANGIOKERATOMA corporis diffusum, HEALTH services accessibility, SCALE analysis (Psychology), CONSENSUS (Social sciences), RESEARCH funding, DESCRIPTIVE statistics, ENZYMES, ELIGIBILITY (Social aspects), INTERNAL medicine, EVIDENCE-based medicine, DATA analysis software, GLYCOSIDASES
Abstract

Background: Disease‐specific therapy aims to improve symptoms, stabilise current disease and delay progression in patients with Fabry disease. In Australia, treatment access is subject to eligibility criteria initially established in 2004. Patients and their clinicians question why these criteria have remained unchanged despite significant progress in disease understanding. Aims: Appraise the clinical quality of the Australian treatment access criteria. Methods: The Fabry Australia Medical Advisory Committee (N = 6) used the Appraisal of Guidelines for REsearch and Evaluation Global Rating Scale (AGREE II GRS) to assess the clinical quality of the current treatment eligibility criteria. They reviewed the literature, developed 17 clinical statements to help guide reforms of the eligibility criteria and achieved consensus (achievement of ≥75% agreement in the range 5–7 on a 7‐point Likert scale) through anonymous voting. The findings were applied to develop proposals for revised classification and treatment initiation criteria. Results: The current treatment eligibility criteria underperformed on the AGREE II GRS. They are pragmatic but out‐of‐step with contemporary data. Consensus was achieved on all 17 proposed clinical statements. There was strong agreement to differentiate classical male Fabry patients to facilitate timelier access to Fabry‐specific treatment. There was also agreement on the value of adopting relevant organ involvement criteria in classical female patients and patients with non‐classical disease. Conclusions: Australian access criteria are misaligned with current clinical evidence. The clinical statements and proposed classification and initiation criteria should prompt discussions to support more equitable access to treatment and better align Australian practice with contemporary evidence and international guidelines. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Author

Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt, Roberts, Mark, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen, and Kishnani, Priya S

Published
2021
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11. A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Author

Byrne, Barry J, Geberhiwot, Tarekegn, Barshop, Bruce A, Barohn, Richard, Hughes, Derralynn, Bratkovic, Drago, Desnuelle, Claude, Laforet, Pascal, Mengel, Eugen, Roberts, Mark, Haroldsen, Peter, Reilley, Kristin, Jayaram, Kala, Yang, Ke, Walsh, Liron, and on behalf of the POM-001/002 Investigators

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Chronic Liver Disease and Cirrhosis, Rare Diseases, Liver Disease, Lung, Clinical Research, Digestive Diseases, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Enzyme Replacement Therapy, Female, Glycogen Storage Disease Type II, Humans, Male, Middle Aged, Muscle, Skeletal, alpha-Glucosidases, Reveglucosidase alfa, Late-onset Pompe disease, Enzyme replacement therapy, Pharmacokinetics, Safety, Efficacy, Respiratory, Pulmonary, POM-001/002 Investigators, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract

BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure. Current enzyme replacement therapy with recombinant human (rh)GAA has demonstrated efficacy in subjects with late-onset Pompe disease. However, long-term effects of rhGAA on pulmonary function have not been observed, likely related to inefficient delivery of rhGAA to skeletal muscle lysosomes and associated deficits in the central nervous system. To address this limitation, reveglucosidase alfa, a novel insulin-like growth factor 2 (IGF2)-tagged GAA analogue with improved lysosomal uptake, was developed. This study evaluated the pharmacokinetics, safety, and exploratory efficacy of reveglucosidase alfa in 22 subjects with late-onset Pompe disease who were previously untreated with rhGAA.ResultsReveglucosidase alfa plasma concentrations increased linearly with dose, and the elimination half-life was

Published
2017

12. Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Author

Eichler, Florian, Duncan, Christine, Musolino, Patricia L, Orchard, Paul J, De Oliveira, Satiro, Thrasher, Adrian J, Armant, Myriam, Dansereau, Colleen, Lund, Troy C, Miller, Weston P, Raymond, Gerald V, Sankar, Raman, Shah, Ami J, Sevin, Caroline, Gaspar, H Bobby, Gissen, Paul, Amartino, Hernan, Bratkovic, Drago, Smith, Nicholas JC, Paker, Asif M, Shamir, Esther, O'Meara, Tara, Davidson, David, Aubourg, Patrick, and Williams, David A

Subjects
Medical Biotechnology, Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Transplantation, Rare Diseases, Biotechnology, Genetics, Clinical Research, Stem Cell Research, Stem Cell Research - Nonembryonic - Non-Human, Brain Disorders, Neurosciences, Regenerative Medicine, Stem Cell Research - Nonembryonic - Human, Evaluation of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, 6.2 Cellular and gene therapies, ATP Binding Cassette Transporter, Subfamily D, Member 1, ATP-Binding Cassette Transporters, Adolescent, Adrenoleukodystrophy, Antigens, CD34, Biomarkers, Child, Combined Modality Therapy, Genetic Therapy, Genetic Vectors, Granulocyte Colony-Stimulating Factor, Hematopoietic Stem Cell Transplantation, Hematopoietic Stem Cells, Humans, Lentivirus, Male, Polymerase Chain Reaction, Transplantation, Autologous, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundIn X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and neurodegeneration. Disease progression, which leads to loss of neurologic function and death, can be halted only with allogeneic hematopoietic stem-cell transplantation.MethodsWe enrolled boys with cerebral adrenoleukodystrophy in a single-group, open-label, phase 2-3 safety and efficacy study. Patients were required to have early-stage disease and gadolinium enhancement on magnetic resonance imaging (MRI) at screening. The investigational therapy involved infusion of autologous CD34+ cells transduced with the elivaldogene tavalentivec (Lenti-D) lentiviral vector. In this interim analysis, patients were assessed for the occurrence of graft-versus-host disease, death, and major functional disabilities, as well as changes in neurologic function and in the extent of lesions on MRI. The primary end point was being alive and having no major functional disability at 24 months after infusion.ResultsA total of 17 boys received Lenti-D gene therapy. At the time of the interim analysis, the median follow-up was 29.4 months (range, 21.6 to 42.0). All the patients had gene-marked cells after engraftment, with no evidence of preferential integration near known oncogenes or clonal outgrowth. Measurable ALD protein was observed in all the patients. No treatment-related death or graft-versus-host disease had been reported; 15 of the 17 patients (88%) were alive and free of major functional disability, with minimal clinical symptoms. One patient, who had had rapid neurologic deterioration, had died from disease progression. Another patient, who had had evidence of disease progression on MRI, had withdrawn from the study to undergo allogeneic stem-cell transplantation and later died from transplantation-related complications.ConclusionsEarly results of this study suggest that Lenti-D gene therapy may be a safe and effective alternative to allogeneic stem-cell transplantation in boys with early-stage cerebral adrenoleukodystrophy. Additional follow-up is needed to fully assess the duration of response and long-term safety. (Funded by Bluebird Bio and others; STARBEAM ClinicalTrials.gov number, NCT01896102 ; ClinicalTrialsRegister.eu number, 2011-001953-10 .).

Published
2017

13. Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

Author

Mozaffar, Tahseen, primary, Bratkovic, Drago, additional, Byrne, Barry J., additional, Claeys, Kristl G., additional, Diaz-Manera, Jordi, additional, Dimachkie, Mazen M., additional, Kishnani, Priya S., additional, Kushlaf, Hani, additional, Roberts, Mark E., additional, Toscano, Antonio, additional, Castelli, Jeffrey, additional, Holdbrook, Fred K., additional, Das, Sheela Sitaraman, additional, Wasfi, Yasmine, additional, and Schoser, Benedikt, additional

Published
2024
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14. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)

Author

Byrne, Barry J., primary, Schoser, Benedikt, additional, Kishnani, Priya S., additional, Bratkovic, Drago, additional, Clemens, Paula R., additional, Goker-Alpan, Ozlem, additional, Ming, Xue, additional, Roberts, Mark, additional, Vorgerd, Matthias, additional, Sivakumar, Kumaraswamy, additional, van der Ploeg, Ans T., additional, Goldman, Mitchell, additional, Wright, Jacquelyn, additional, Holdbrook, Fred, additional, Jain, Vipul, additional, Benjamin, Elfrida R., additional, Johnson, Franklin, additional, Das, Sheela Sitaraman, additional, Wasfi, Yasmine, additional, and Mozaffar, Tahseen, additional

Published
2023
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16. Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I

Author

Bush, Douglas, Sremba, Leighann, Lomax, Kate, Lipsett, Jill, Ketteridge, David, Bratkovic, Drago, Enchautegui-Colon, Yazmin, Weisfeld-Adams, James, Galambos, Csaba, Lummus, Seth, Wartchow, Eric, Weinman, Jason, Liptzin, Deborah R., Baker, Peter, II, Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor

Published
2019
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17. Corrigendum to “Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II”

Author

Muenzer, Joseph, primary, Burton, Barbara K., additional, Harmatz, Paul, additional, Gutiérrez-Solana, Luis González, additional, Ruiz-Garcia, Matilde, additional, Jones, Simon A., additional, Guffon, Nathalie, additional, Inbar-Feigenberg, Michal, additional, Bratkovic, Drago, additional, Hale, Michael, additional, Wu, Yuna, additional, Yee, Karen S., additional, Whiteman, David A.H., additional, and Alexanderian, David, additional

Published
2023
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18. Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study

Author

Muenzer, Joseph, primary, Burton, Barbara K., additional, Harmatz, Paul, additional, Gutiérrez-Solana, Luis González, additional, Ruiz-Garcia, Matilde, additional, Jones, Simon A., additional, Guffon, Nathalie, additional, Inbar-Feigenberg, Michal, additional, Bratkovic, Drago, additional, Hale, Michael, additional, Wu, Yuna, additional, Yee, Karen S., additional, Whiteman, David A.H., additional, and Alexanderian, David, additional

Published
2023
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20. Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

Author

Sun, Jun, McGillivray, Angela J, Pinner, Jason, Yan, Zhihui, Liu, Fengxia, Bratkovic, Drago, Thompson, Elizabeth, Wei, Xiuxiu, Jiang, Huifeng, Asan, Chopra, Maya, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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21. Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis

Author

Roberts, Rachel M., Muller, Tamara, Sweeney, Annabel, Bratkovic, Drago, Gannoni, Anne, Morante, Brianna, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2017
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22. Long-term Follow-up of Cipaglucosidase Alfa/Miglustat in Ambulatory Patients with Pompe Disease: An Open-label Phase I/II Study (ATB200-02) (S48.007)

Author

Mozaffar, Tahseen, primary, Schoser, Benedikt, additional, Kishnani, Priya, additional, Bratkovic, Drago, additional, Clemens, Paula R., additional, Goker-Alpan, Ozlem, additional, Ming, Xue, additional, Roberts, Mark, additional, Sivakumar, Kumaraswamy, additional, Van Der Ploeg, Ans, additional, Goldman, Mitchell, additional, Wright, Jacquelyn, additional, Holdbrook, Fred, additional, Jain, Vipul, additional, Sitaraman, Sheela, additional, Wasfi, Yasmine, additional, and Byrne, Barry, additional

Published
2023
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23. Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Author

Nabatame, Shin, primary, Tanigawa, Junpei, additional, Tominaga, Koji, additional, Kagitani-Shimono, Kuriko, additional, Yanagihara, Keiko, additional, Imai, Katsumi, additional, Ando, Toru, additional, Tsuyusaki, Yu, additional, Araya, Nami, additional, Matsufuji, Mayumi, additional, Natsume, Jun, additional, Yuge, Kotaro, additional, Bratkovic, Drago, additional, Arai, Hiroshi, additional, Okinaga, Takeshi, additional, Matsushige, Takeshi, additional, Azuma, Yoshiteru, additional, Ishihara, Naoko, additional, Miyatake, Satoko, additional, Kato, Mitsuhiro, additional, Matsumoto, Naomichi, additional, Okamoto, Nobuhiko, additional, Takahashi, Satoru, additional, Hattori, Satoshi, additional, and Ozono, Keiichi, additional

Published
2023
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27. Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Author

Byrne, Barry J., primary, Schoser, Benedikt, additional, Kishnani, Priya, additional, Bratkovic, Drago, additional, Clemens, Paula R., additional, Goker-Alpan, Ozlem, additional, Ming, Xue, additional, Roberts, Mark, additional, van der Ploeg, Ans T., additional, Goldman, Mitchell, additional, Wright, Jacquelyn, additional, Holdbrook, Fred, additional, Jain, Vipul, additional, Sitaraman, Sheela, additional, Wasfi, Yasmine, additional, and Mozaffar, Tahseen, additional

Published
2023
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28. Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

Author

Thompson, Susan, primary, Hertzog, Ashley, additional, Selvanathan, Arthavan, additional, Batten, Kiera, additional, Lewis, Katherine, additional, Nisbet, Janelle, additional, Mitchell, Ashleigh, additional, Dalkeith, Troy, additional, Billmore, Kate, additional, Moore, Francesca, additional, Tolun, Adviye Ayper, additional, Devanapalli, Beena, additional, Bratkovic, Drago, additional, Hilditch, Cathie, additional, Rahman, Yusof, additional, Tchan, Michel, additional, and Bhattacharya, Kaustuv, additional

Published
2023
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30. P021: Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory and non-ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Author

Kishnani, Priya, primary, Schoser, Benedikt, additional, Bratkovic, Drago, additional, Clemens, Paula, additional, Goker-Alpan, Ozlem, additional, Ming, Xue, additional, Roberts, Mark, additional, Vorgerd, Matthias, additional, Sivakumar, Kumaraswamy, additional, van der Ploeg, Ans, additional, Goldman, Mitchell, additional, Wright, Jacquelyn, additional, Holdbrook, Fred, additional, Jain, Vipul, additional, Das, Sheela Sitaraman, additional, Wasfi, Yasmine, additional, Mozaffar, Tahseen, additional, and Byrne, Barry, additional

Published
2023
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32. Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I

Author

Bush, Douglas, primary, Sremba, Leighann, additional, Lomax, Kate, additional, Lipsett, Jill, additional, Ketteridge, David, additional, Bratkovic, Drago, additional, Enchautegui-Colon, Yazmin, additional, Weisfeld-Adams, James, additional, Galambos, Csaba, additional, Lummus, Seth, additional, Wartchow, Eric, additional, Weinman, Jason, additional, Liptzin, Deborah R., additional, and Baker, Peter, additional

Published
2018
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33. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Author

Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Jr., Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., and Van Hove, Johan L. K.

Published
2018
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34. Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II

Author

Muenzer, Joseph, primary, Burton, Barbara K., additional, Harmatz, Paul, additional, Gutiérrez-Solana, Luis González, additional, Ruiz-Garcia, Matilde, additional, Jones, Simon A., additional, Guffon, Nathalie, additional, Inbar-Feigenberg, Michal, additional, Bratkovic, Drago, additional, Hale, Michael, additional, Wu, Yuna, additional, Yee, Karen S., additional, Whiteman, David A.H., additional, and Alexanderian, David, additional

Published
2022
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36. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Author

Grünert, Sarah C., primary, Derks, Terry G.J., additional, Adrian, Katarina, additional, Al-Thihli, Khalid, additional, Ballhausen, Diana, additional, Bidiuk, Joanna, additional, Bordugo, Andrea, additional, Boyer, Monica, additional, Bratkovic, Drago, additional, Brunner-Krainz, Michaela, additional, Burlina, Alberto, additional, Chakrapani, Anupam, additional, Corpeleijn, Willemijn, additional, Cozens, Alison, additional, Dawson, Charlotte, additional, Dhamko, Helena, additional, Milosevic, Maja Djordjevic, additional, Eiroa, Hernan, additional, Finezilber, Yael, additional, Moura de Souza, Carolina Fischinger, additional, Garcia-Jiménez, Maria Concepción, additional, Gasperini, Serena, additional, Haas, Dorothea, additional, Häberle, Johannes, additional, Halligan, Rebecca, additional, Fung, Law Hiu, additional, Hörbe-Blindt, Alexandra, additional, Horka, Laura Maria, additional, Huemer, Martina, additional, Uçar, Sema Kalkan, additional, Kecman, Bozica, additional, Kilavuz, Sebile, additional, Kriván, Gergely, additional, Lindner, Martin, additional, Lüsebrink, Natalia, additional, Makrilakis, Konstantinos, additional, Mei-Kwun Kwok, Anne, additional, Maier, Esther M., additional, Maiorana, Arianna, additional, McCandless, Shawn E., additional, Mitchell, John James, additional, Mizumoto, Hiroshi, additional, Mundy, Helen, additional, Ochoa, Carlos, additional, Pierce, Kathryn, additional, Fraile, Pilar Quijada, additional, Regier, Debra, additional, Rossi, Alessandro, additional, Santer, René, additional, Schuman, Hester C., additional, Sobieraj, Piotr, additional, Spenger, Johannes, additional, Spiegel, Ronen, additional, Stepien, Karolina M., additional, Tal, Galit, additional, Tanšek, Mojca Zerjav, additional, Torkar, Ana Drole, additional, Tchan, Michel, additional, Thyagu, Santhosh, additional, Schrier Vergano, Samantha A., additional, Vucko, Erika, additional, Weinhold, Natalie, additional, Zsidegh, Petra, additional, and Wortmann, Saskia B., additional

Published
2022
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37. Biallelic IARS2 mutations presenting as sideroblastic anemia

Author

Barcia, Giulia, Pandithan, Dinusha, Ruzzenente, Benedetta, Assouline, Zahra, Pennisi, Alessandra, Ormieres, Clothilde, Besmond, Claude, Roux, Charles-Joris, Boddaert, Nathalie, Desguerre, Isabelle, Thorburn, David R., Bratkovic, Drago, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, and Steffann, Julie

Subjects
Amino Acyl-tRNA Synthetases, Mutation, Humans, Case Reports, Anemia, Sideroblastic
Abstract

Not available.

Published
2021

38. Cipaglucosidase alfa/miglustat Versus alglucosidase alfa/placebo in Late-onset Pompe Disease (LOPD): PROPEL Study Subgroup Analyses (S8.002)

Author

Mozaffar, Tahseen, primary, Bratkovic, Drago, additional, Byrne, Barry, additional, Díaz-Manera, Jordi, additional, Laforêt, Pascal, additional, van der Ploeg, Ans, additional, Roberts, Mark, additional, Schoser, Benedikt, additional, Toscano, Antonio, additional, Jiang, Hai, additional, Sitaraman, Sheela, additional, Goldman, Mitchell, additional, Castelli, Jeff, additional, and Kishnani, Priya S., additional

Published
2022
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40. eP157: Efficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study

Author

Kishnani, Priya, primary, Bratkovic, Drago, additional, Byrne, Barry, additional, Díaz-Manera, Jordi, additional, Laforêt, Pascal, additional, Mozaffar, Tahseen, additional, van der Ploeg, Ans, additional, Roberts, Mark, additional, Toscano, Antonio, additional, Jiang, Hai, additional, Sitaraman, Sheela, additional, Goldman, Mitchell, additional, Castelli, Jeff, additional, and Schoser, Benedikt, additional

Published
2022
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41. Cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): PROPEL study subgroup analyses

Author

Byrne, Barry, primary, Bratkovic, Drago, additional, Díaz-Manera, Jordi, additional, Laforêt, Pascal, additional, Mozaffar, Tahseen, additional, van der Ploeg, Ans, additional, Roberts, Mark, additional, Schoser, Benedikt, additional, Toscano, Antonio, additional, Jiang, Hai, additional, Sitaraman, Sheela, additional, Goldman, Mitchell, additional, Castelli, Jeff, additional, and Kishnani, Priya S., additional

Published
2022
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42. FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children

Author

Riley, Lisa G., primary, Nafisinia, Michael, additional, Menezes, Minal J., additional, Nambiar, Reta, additional, Williams, Andrew, additional, Barnes, Elizabeth H., additional, Selvanathan, Arthavan, additional, Lichkus, Kate, additional, Bratkovic, Drago, additional, Yaplito-Lee, Joy, additional, Bhattacharya, Kaustuv, additional, Ellaway, Carolyn, additional, Kava, Maina, additional, Balasubramaniam, Shanti, additional, and Christodoulou, John, additional

Published
2022
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44. Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Author

Cabrera-Serrano, Macarena, primary, Caccavelli, Laure, additional, Savarese, Marco, additional, Vihola, Anna, additional, Jokela, Manu, additional, Johari, Mridul, additional, Capiod, Thierry, additional, Madrange, Marine, additional, Bugiardini, Enrico, additional, Brady, Stefen, additional, Quinlivan, Rosaline, additional, Merve, Ashirwad, additional, Scalco, Renata, additional, Hilton-Jones, David, additional, Houlden, Henry, additional, Aydin, Halil Ibrahim, additional, Ceylaner, Serdar, additional, Drewes, Sarah, additional, Vockley, Jerry, additional, Taylor, Rhonda L, additional, Folland, Chiara, additional, Kelly, Aasta, additional, Goullee, Hayley, additional, Ylikallio, Emil, additional, Auranen, Mari, additional, Tyynismaa, Henna, additional, Udd, Bjarne, additional, Forrest, Alistair R R, additional, Davis, Mark R, additional, Bratkovic, Drago, additional, Manton, Nicholas, additional, Robertson, Thomas, additional, O’Gorman, Cullen, additional, McCombe, Pamela, additional, Laing, Nigel G, additional, Phillips, Liza, additional, de Lonlay, Pascale, additional, and Ravenscroft, Gianina, additional

Published
2021
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45. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Author

Schoser, Benedikt, primary, Roberts, Mark, additional, Byrne, Barry J, additional, Sitaraman, Sheela, additional, Jiang, Hai, additional, Laforêt, Pascal, additional, Toscano, Antonio, additional, Castelli, Jeff, additional, Díaz-Manera, Jordi, additional, Goldman, Mitchell, additional, van der Ploeg, Ans T, additional, Bratkovic, Drago, additional, Kuchipudi, Srilakshmi, additional, Mozaffar, Tahseen, additional, Kishnani, Priya S, additional, Sebok, Agnes, additional, Pestronk, Alan, additional, Dominovic-Kovacevic, Aleksandra, additional, Khan, Aneal, additional, Koritnik, Blaž, additional, Tard, Celine, additional, Lindberg, Christopher, additional, Quinn, Colin, additional, Eldridge, Crystal, additional, Bodkin, Cynthia, additional, Reyes-Leiva, David, additional, Hughes, Derralynn, additional, Stefanescu, Ela, additional, SALORT-CAMPANA, Emmanuelle, additional, Butler, Ernest, additional, Bouhour, Francoise, additional, Kim, Gee, additional, Konstantinos Papadimas, George, additional, Parenti, Giancarlo, additional, Bartosik-Psujek, Halina, additional, Kushlaf, Hani, additional, Akihiro, Hashiguchi, additional, Lau, Heather, additional, Pedro, Helio, additional, Andersen, Henning, additional, Amartino, Hernan, additional, Shiraishi, Hideaki, additional, Kobayashi, Hiroshi, additional, Tarnev, Ivaylo, additional, Vengoechea, Jaime, additional, Avelar, Jennifer, additional, Shin, Jin-Hong, additional, Cauci, Jonathan, additional, Alonso-Pérez, Jorge, additional, Janszky, Jozsef, additional, Berthy, Julie, additional, Cornelia, Kornblum, additional, Gutschmidt, Kristina, additional, Claeys, Kristl, additional, Judit Molnar, Maria, additional, Wencel, Marie, additional, Tarnopolsky, Mark, additional, Dimachkie, Mazen, additional, Tchan, Michel, additional, Freimer, Miriam, additional, Longo, Nicola, additional, Vidal-Fernandez, Nuria, additional, Musumeci, Olimpia, additional, Goker-Alpan, Ozlem, additional, Deegan, Patrick, additional, Clemens, Paula R., additional, Roxburgh, Richard, additional, Henderson, Robert, additional, Hopkin, Robert, additional, Sacconi, Sabrina, additional, Fecarotta, Simona, additional, Attarian, Shahram, additional, Wenninger, Stephan, additional, Dearmey, Stephanie, additional, Hiwot, Tarekegn, additional, Burrow, Thomas, additional, Ruck, Tobias, additional, Sawada, Tomo, additional, Laszlo, Vescei, additional, Löscher, Wolfgang, additional, and Chien, Yin-Hsiu, additional

Published
2021
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46. Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Author

Sue, Carolyn M., primary, Balasubramaniam, Shanti, additional, Bratkovic, Drago, additional, Bonifant, Catherine, additional, Christodoulou, John, additional, Coman, David, additional, Crawley, Karen, additional, Edema‐Hildebrand, Fabienne, additional, Ellaway, Carolyn, additional, Ghaoui, Roula, additional, Kava, Maina, additional, Kearns, Lisa S., additional, Lee, Joy, additional, Liang, Christina, additional, Mackey, David A., additional, Murray, Sean, additional, Needham, Merrilee, additional, Rius, Rocio, additional, Russell, Jacqui, additional, Smith, Nicholas J.C., additional, Thyagarajan, Dominic, additional, and Wools, Christine, additional

Published
2021
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48. Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

Author

Cabrera-Serrano, Macarena, primary, Caccavelli, Laure, additional, Savarese, Marco, additional, Vihola, Anna, additional, Jokela, Manu, additional, Johari, Mridul, additional, Capiod, Thierry, additional, Madrange, Marine, additional, Bugiardini, Enrico, additional, Brady, Stefen, additional, Quinlivan, Ros, additional, Merve, Ashirwad, additional, Scalco, Renata, additional, Hilton-Jones, David, additional, Houlden, Henry, additional, Aydin, Halil, additional, Ceylaner, Serdar, additional, Vockley, Jerry, additional, Taylor, Rhonda, additional, Goullee, Hayley, additional, Ylikallio, Emil, additional, Auranen, Mari, additional, Tyynismaa, Henna, additional, Udd, Bjarne, additional, Davis, Mark, additional, Forrest, Alistair, additional, Bratkovic, Drago, additional, Manton, Nicholas, additional, Robertson, Thomas, additional, McCombe, Pamela, additional, Laing, Nigel, additional, Phillips, Liza, additional, Delonlay, Pascale, additional, and Ravenscroft, Gianina, additional

Published
2021
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