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29 results on '"Abdel-Hamid, Hoda Z."'

1. Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab

Author

Sherlock, Sarah P., Palmer, Jeffrey, Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Bertini, Enrico, Tian, Cuixia, Mah, Jean K., Kostera-Pruszczyk, Anna, Muntoni, Francesco, Guglieri, Michela, Brandsema, John F., Mercuri, Eugenio, Butterfield, Russell J., McDonald, Craig M., Charnas, Lawrence, and Marraffino, Shannon

Published
2022
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4. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe, McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, and Mercuri, Eugenio

Published
2017
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9. Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

Author

Shieh, Perry B, primary, Elfring, Gary, additional, Trifillis, Panayiota, additional, Santos, Claudio, additional, Peltz, Stuart W, additional, Parsons, Julie A, additional, Apkon, Susan, additional, Darras, Basil T, additional, Campbell, Craig, additional, McDonald, Craig M, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bushby, Kate, additional, Chabrol, Brigitte, additional, Ciafaloni, Emma, additional, Columer, Jaume, additional, Comi, Giacomi Pietro, additional, Connolly, Anne, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Guglieri, Michela, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Kaufmann, Petra, additional, Kirschner, Janbernd, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Nevo, Yoram, additional, Osorio, Andrés Nascimento, additional, Péréon, Yann, additional, Quinlivan, Rosaline, additional, Renfroe, J. Ben, additional, Russman, Barry, additional, Ryan, Monique, additional, Sampson, Jacinda, additional, Schara, Ulrike, additional, Selby, Kathryn, additional, Sejersen, Thomas, additional, Sproule, Douglas M, additional, Sweeney, H. Lee, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Vita, Giuseppe, additional, Voit, Thomas, additional, Burns-Wechsler, Stephanie, additional, Wong, Brenda, additional, Abresch, Ted, additional, Henricson, Erik K, additional, Coleman, Kim, additional, Eagle, Michelle, additional, Florence, Julaine, additional, Gappmaier, Ed, additional, McDonald, Craig, additional, Abdel-Hamid, Hoda Z, additional, Bloetzer, Clemens, additional, Butterfield, Russell J, additional, Chae, Jong-Hee, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Heydemann, Peter, additional, Hughes, Imelda, additional, Kaminska, Anna, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Dutra de Resende, Maria Bernadete, additional, Tennekoon, Gihan, additional, Topaloglu, Haluk, additional, Torricelli, Ricardo Erazo, additional, Alfano, Lindsay N, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, and Rose, Kristy J, additional

Published
2021
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11. Corrigendum to 'Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy' [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502] (Neuromuscular Disorders (2020) 30(6) (492–502), (S0960896620301188), (10.1016/j.nmd.2020.05.002))

Author

Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Mah, Jean K., Campbell, Craig, Guglieri, Michela, Muntoni, Francesco, Takeshima, Yasuhiro, McDonald, Craig M., Kahn, Anna, Atkinson, Karen M., Palmer, Jerry P., Utzschneider, Kristina M., Gebremedhin, Tsige, Kernan-Schloss, Abigail, Kozedub, Alexandra, Montgomery, Brenda K., Morse, Emily J., Mather, Kieren J., Garrett, Tammy, Hannon, Tamara S., Lteif, Amale, Patel, Aniket, Chisholm, Robin, Moore, Karen, Pirics, Vivian, and Pratt, Linda

Abstract

This article reported on the results from a phase 2 trial of domagrozumab and its open-label extension in patients with Duchenne muscular dystrophy (Clinicaltrials.gov identifiers: NCT02310763 and NCT02907619). The manuscript also provided results on two secondary endpoints for magnetic resonance imaging (MRI), muscle volume and muscle volume index. The authors regret that, following publication of the results and in preparation for a separate publication on MRI results from this trial, the MRI images were reviewed and segmentation errors were identified. As a result, the team worked to (1) Perform a rigorous quality inspection of all analysed data; (2) Identify cases where there were incorrect segmentations; (3) correct segmentation errors; (4) Re-analyse all data with correct segmentation. Using the updated MRI data, the MMRM analysis showed there was a change in the significance of secondary endpoints evaluating Thigh Muscle Volume and Muscle Volume Index. No significant differences between treatment groups in muscle volume measures were found in the original analysis. These results have not altered the overall interpretation of the study results but do necessitate revisions to the article. These data confirm that the trial design and execution adequately tested the hypothesis that myostatin inhibition would slow or delay the loss of function in patients with Duchenne muscular dystrophy (DMD). The increase in muscle volume observed by MRI in patients with DMD treated with domagrozumab is in accordance with mechanism of action for domagrozumab, which targets myostatin, a negative regulator of muscle growth. The increase in muscle volume did not lead to a clinical benefit in patients with DMD. The primary endpoint (4 stair climb) did not meet statistical significance, nor did the other functional tests. The study was terminated due to lack of efficacy. Full details of the needed revisions are as follows: 1. In the results section 3.6 (page 8, second paragraph), we reported no significant differences in mean percent change from baseline between domagrozumab and placebo for both muscle volume and muscle volume index. This paragraph was replaced with the following text: “There was a significant difference between domagrozumab and placebo in the mean percent change from baseline in thigh muscle volume at Week 17 (difference 2.945%, P=0.0087) and Week 49 (differences 4.087%, P=0.0298), and in muscle volume index at Week 33 (difference 2.612%, P=0.0376) and Week 49 (differences3.208%, P=0.0411).” 2. In the discussion (page 9), the following sentence, “Although neither muscle volume nor muscle volume index measures were statistically significant in this study, they are both consistent with a potential anabolic effect.” was replaced with, “The increase in muscle volume observed on MRI in patients with DMD treated with domagrozumab, is in accordance with mechanism of action for this compound which targets myostatin, a negative regulator of muscle growth. However, the increase in muscle volume did not lead to a clinical benefit (improved function) in patients with DMD.” 3. In view of the correction to the Results section, this is now reflected in the abstract which has changed to read: “There were no significant between-group differences in secondary clinical endpoints, except for the thigh muscle volume and muscle volume index measures (P

Published
2021

13. Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502]

Author

Wagner, Kathryn R., primary, Abdel-Hamid, Hoda Z., additional, Mah, Jean K., additional, Campbell, Craig, additional, Guglieri, Michela, additional, Muntoni, Francesco, additional, Takeshima, Yasuhiro, additional, McDonald, Craig M., additional, Kostera-Pruszczyk, Anna, additional, Karachunski, Peter, additional, Butterfield, Russell J., additional, Mercuri, Eugenio, additional, Fiorillo, Chiara, additional, Bertini, Enrico S., additional, Tian, Cuixia, additional, Statland, Jeffery, additional, Sadosky, Alesia B., additional, Purohit, Vivek S., additional, Sherlock, Sarah P., additional, Palmer, Jeffrey P., additional, Binks, Michael, additional, Charnas, Lawrence, additional, Marraffino, Shannon, additional, and Wong, Brenda L., additional

Published
2021
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15. A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods.

Author

Gurunathan, Sharavana, Sebastian, Jessica, Baker, Jennifer, Abdel‐Hamid, Hoda Z., West, Shawn C., Feingold, Brian, Peche, Vivek, Reyes‐Múgica, Miguel, Madan‐Khetarpal, Suneeta, and Field, Jeffrey

Abstract

Nemaline Myopathy (NM) is a disorder of skeletal muscles caused by mutations in sarcomere proteins and characterized by accumulation of microscopic rod or thread‐like structures (nemaline bodies) in skeletal muscles. Patients diagnosed with both NM and infantile cardiomyopathy are very rare. A male infant presented, within the first few hours of life, with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. A muscle biopsy on the 8th day of life from the right sternocleidomastoid muscle identified nemaline rods. Whole exome sequencing identified a c.1288 delT (homozygous pathogenic variant) in the CAP2 gene (NM_006366), yielding a CAP2 protein (NP_006357.1) with a p.C430fs. Both parents were heterozygous for the same variant but have no history of heart or muscle disease. Analysis of patient derived fibroblasts and cardiomyocytes derived from induced pluripotent stem cells confirmed the p.C430fs mutation (pathogenic variant), which appears to cause loss of both CAP2 protein and mRNA. The CAP2 gene encodes cyclase associated protein 2, an actin monomer binding and filament depolymerizing protein and CAP2 knockout mice develop severe dilated cardiomyopathy and muscle weakness. The patient underwent a heart transplant at 1 year of age. Heart tissue explanted at that time also showed nemaline rods and additionally disintegration of the myofibrillar structure. Other extra cardiac concerns include mild hypotonia, atrophic and widened scarring. This is the first description of a patient presenting with nemaline myopathy associated with a pathogenic variant of CAP2. [ABSTRACT FROM AUTHOR]

Published
2022
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16. Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region

Author

Strehle, Eugen-Matthias, Yu, Linbo, Rosenfeld, Jill A., Donkervoort, Sandra, Zhou, Yulin, Chen, Tian-Jian, Martinez, Jose E., Fan, Yao-Shan, Barbouth, Deborah, Zhu, Hongbo, Vaglio, Alicia, Smith, Rosemarie, Stevens, Cathy A., Curry, Cynthia J., Ladda, Roger L., Fan, Zheng (Jane), Fox, Joyce E., Martin, Judith A., Abdel-Hamid, Hoda Z., McCracken, Elizabeth A., McGillivray, Barbara C., Masser-Frye, Diane, and Huang, Taosheng

Published
2012
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17. Medical management of muscle weakness in Duchenne muscular dystrophy

Author

Rivera, Sarah R., primary, Jhamb, Sumit K., additional, Abdel-Hamid, Hoda Z., additional, Acsadi, Gyula, additional, Brandsema, John, additional, Ciafaloni, Emma, additional, Darras, Basil T., additional, Iannaccone, Susan T., additional, Konersman, Chamindra G., additional, Kuntz, Nancy L., additional, McDonald, Craig M., additional, Parsons, Julie A., additional, Tesi Rocha, Carolina, additional, Zaidman, Craig M., additional, Butterfield, Russell J., additional, Connolly, Anne M., additional, and Mathews, Katherine D., additional

Published
2020
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19. A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.

Author

Mitelman, Olga, Abdel-Hamid, Hoda Z., Byrne, Barry J., Connolly, Anne M., Heydemann, Peter, Proud, Crystal, Shieh, Perry B., Wagner, Kathryn R., Dugar, Ashish, Santra, Sourav, Signorovitch, James, Goemans, Nathalie, McDonald, Craig M., Mercuri, Eugenio, and Mendell, Jerry R.

Published
2022
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22. Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy.

Author

Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Mah, Jean K., Campbell, Craig, Guglieri, Michela, Muntoni, Francesco, Takeshima, Yasuhiro, McDonald, Craig M., Kostera-Pruszczyk, Anna, Karachunski, Peter, Butterfield, Russell J., Mercuri, Eugenio, Fiorillo, Chiara, Bertini, Enrico S., Tian, Cuixia, Statland, Jeffery, Sadosky, Alesia B., Purohit, Vivek S., Sherlock, Sarah P., and Palmer, Jeffrey P.

Subjects
*DUCHENNE muscular dystrophy, *TREATMENT effectiveness, *PHARMACOKINETICS
Abstract

• Domagrozumab at 5, 20, and 40 mg/kg was generally safe and well tolerated. • Primary endpoint of mean change from baseline in 4SC time at week 49 was not met. • Efficacy measures did not support a significant treatment effect with domagrozumab. • Nonsignificant increase in muscle volume was observed with domagrozumab vs placebo. We report results from a phase 2, randomized, double-blind, 2-period trial (48 weeks each) of domagrozumab and its open-label extension in patients with Duchenne muscular dystrophy (DMD). Of 120 ambulatory boys (aged 6 to <16 years) with DMD, 80 were treated with multiple ascending doses (5, 20, and 40 mg/kg) of domagrozumab and 40 treated with placebo. The primary endpoints were safety and mean change in 4-stair climb (4SC) time at week 49. Secondary endpoints included other functional tests, pharmacokinetics, and pharmacodynamics. Mean (SD) age was 8.4 (1.7) and 9.3 (2.3) years in domagrozumab- and placebo-treated patients, respectively. Difference in mean (95% CI) change from baseline in 4SC at week 49 for domagrozumab vs placebo was 0.27 (–7.4 to 7.9) seconds (p = 0.94). There were no significant between-group differences in any secondary clinical endpoints. Most patients had ≥1 adverse event in the first 48 weeks; most were mild and not treatment-related. Median serum concentrations of domagrozumab increased with administered dose within each dose level. Non-significant increases in muscle volume were observed in domagrozumab- vs placebo-treated patients. Domagrozumab was generally safe and well tolerated in patients with DMD. Efficacy measures did not support a significant treatment effect. Clinicaltrials.gov identifiers: NCT02310763 and NCT02907619 [ABSTRACT FROM AUTHOR]

Published
2020
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24. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

McDonald, Craig M, primary, Campbell, Craig, additional, Torricelli, Ricardo Erazo, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Heydemann, Peter, additional, Kaminska, Anna, additional, Kirschner, Janbernd, additional, Muntoni, Francesco, additional, Osorio, Andrés Nascimento, additional, Schara, Ulrike, additional, Sejersen, Thomas, additional, Shieh, Perry B, additional, Sweeney, H Lee, additional, Topaloglu, Haluk, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Voit, Thomas, additional, Wong, Brenda, additional, Elfring, Gary, additional, Kroger, Hans, additional, Luo, Xiaohui, additional, McIntosh, Joseph, additional, Ong, Tuyen, additional, Riebling, Peter, additional, Souza, Marcio, additional, Spiegel, Robert J, additional, Peltz, Stuart W, additional, Mercuri, Eugenio, additional, Alfano, Lindsay N, additional, Eagle, Michelle, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, Rose, Kristy J, additional, Abdel-Hamid, Hoda Z, additional, Apkon, Susan D, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bloetzer, Clemens, additional, de Vaud, Lausanne Canton, additional, Butterfield, Russell J, additional, Chabrol, Brigitte, additional, Chae, Jong-Hee, additional, Jongno-gu, Daehak-ro, additional, Comi, Giacomi Pietro, additional, Darras, Basil T, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Guglieri, Michela, additional, Hughes, Imelda, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Nevo, Yoram, additional, Parsons, Julie, additional, Péréon, Yann, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Renfroe, J Ben, additional, de Resende, Maria Bernadete Dutra, additional, Ryan, Monique, additional, Selby, Kathryn, additional, Tennekoon, Gihan, additional, and Vita, Giuseppe, additional

Published
2017
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29. MYL2 -associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.

Author

Marttila M, Win W, Al-Ghamdi F, Abdel-Hamid HZ, Lacomis D, and Beggs AH

Subjects
Cardiomyopathies genetics, Cardiomyopathies mortality, Heterozygote, High-Throughput Nucleotide Sequencing methods, Humans, Infant, Male, Muscle Proteins genetics, Muscle Proteins metabolism, Muscle, Skeletal metabolism, Mutation genetics, Myopathies, Nemaline genetics, Neuromuscular Diseases genetics, Phenotype, Cardiac Myosins genetics, Myopathies, Structural, Congenital diagnosis, Myopathies, Structural, Congenital genetics, Myosin Light Chains genetics
Abstract

Next-generation sequencing has led to transformative advances in our ability to diagnose rare diseases by simultaneously sequencing dozens, hundreds, or even entire genomes worth of genes to efficiently identify pathogenic mutations. These studies amount to multiple hypothesis testing on a massive scale and not infrequently lead to discovery of multiple genetic variants whose relative contributions to a patient's disease are unclear. Panel testing, in particular, can be problematic because each of the many genes being sequenced might represent a plausible explanation for a given case. We performed targeted gene panel analysis of 43 established neuromuscular disease genes in a patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Initial review of variants identified changes in four genes that could be considered relevant candidates to cause this child's disease. Further analysis revealed that two of these are likely benign, but a homozygous frameshift variant in the myosin light chain 2 gene, MYL2 , and a heterozygous nonsense mutation in the nebulin gene, NEB , met criteria to be classified as likely pathogenic or pathogenic. Recessive MYL2 mutations are a rare cause of CFTD associated with both skeletal and cardiomyopathy, whereas recessive NEB mutations cause nemaline myopathy. Although the proband's phenotype is likely largely explained by the MYL2 variant, the heterozygous pathogenic NEB variant cannot be ruled out as a contributing factor. This case illustrates the complexity when analyzing large numbers of variants from targeted gene panels in which each of the genes might plausibly contribute to the patient's clinical presentation., (© 2019 Marttila et al.; Published by Cold Spring Harbor Laboratory Press.)

Published
2019
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