Publications by authors named "Susan Sparks"

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Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile-onset Pompe disease.
Fatiha Rachedi, Rana Jreich, Susan Sparks, Atef Zaher, Kristina An Haack

CPT Pharmacometrics Syst Pharmacol· November 2025

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The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.
David Kronn, James Davison, Alexander Broomfield, Anaïs Brassier, François Labarthe, Susan Sparks

J Pediatr· October 2025

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Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease.
Priya S Kishnani, Yin-Hsiu Chien, Kenneth I Berger, Nate Thibault, Susan Sparks

Mol Genet Metab· October 2024

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The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.
Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks

Orphanet J Rare Dis· April 2024

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Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.
Mazen M Dimachkie, Priya S Kishnani, Cristina Ivanescu, Giulio Flore, Chad Gwaltney, Susan E Sparks

Neurol Clin Pract· October 2023

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Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Priya S Kishnani, David Kronn, Anaïs Brassier, Alexander Broomfield, James Davison, Susan Sparks

Genet Med· February 2023

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Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Tina Duong, Priya S Kishnani, Kristina An Haack, Meredith C Foster, James B Gibson, Susan E Sparks

J Neuromuscul Dis· November 2022

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Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Barry J Byrne, Steven D Colan, Priya S Kishnani, Meredith C Foster, Susan E Sparks

Cardiol Young· March 2022

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Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.
Alaa Hamed, Kristina An Haack, Chad Gwaltney, Eileen Baranowski, Andrew Stewart, Susan Sparks

Orphanet J Rare Dis· October 2021

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Jorge A Bevilacqua, Maria Del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C Franca, Susan Sparks

Orphanet J Rare Dis· January 2020

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Priya S Kishnani, James B Gibson, Michael J Gambello, Richard Hillman, David W Stockton, Susan E Sparks

Genet Med· November 2019

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Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis.
Kenneth I Berger, Steve Kanters, Jeroen P Jansen, Andrew Stewart, Susan Sparks

J Neurol· September 2019

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Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
Ursula Moore, Marni Jacobs, Meredith K James, Anna G Mayhew, Roberto Fernandez-Torron, Susan Sparks

Neurology· January 2019

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Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
Ursula R Moore, Marni Jacobs, Roberto Fernandez-Torron, Jiji Jang, Meredith K James, Susan Sparks

J Neurol Neurosurg Psychiatry· November 2018

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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, Susan Sparks

Genet Med· October 2018

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Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Jordi Diaz-Manera, Roberto Fernandez-Torron, Jaume LLauger, Meredith K James, Anna Mayhew, Susan Sparks

J Neurol Neurosurg Psychiatry· October 2018

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Long-Term Treatment of Tamoxifen and Raloxifene Alleviates Dystrophic Phenotype and Enhances Muscle Functions of FKRP Dystroglycanopathy.
Bo Wu, Sapana N Shah, Peijuan Lu, Lauren E Bollinger, Anthony Blaeser, Susan Sparks

Am J Pathol· April 2018

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Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, Al Ozonoff, Nicole Baumer, Susan Sparks

Am J Med Genet A· June 2017

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A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Christopher A Wassif, Lisa Kratz, Susan E Sparks, Courtney Wheeler, Simona Bianconi

Genet Med· March 2017

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Detecting celiac disease in patients with Down syndrome.
Christianne Sharr, Jenifer Lavigne, Ibrahim M A Elsharkawi, Al Ozonoff, Nicole Baumer, Susan Sparks

Am J Med Genet A· December 2016

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Susan E Sparks

Hum Mutat· July 2016

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Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of α-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation.
Bo Wu, Sapana N Shah, Peijuan Lu, Stephanie M Richardson, Lauren E Bollinger, Susan Sparks

Am J Pathol· June 2016

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National down syndrome patient database: Insights from the development of a multi-center registry study.
Jenifer Lavigne, Christianne Sharr, Al Ozonoff, Lisa Albers Prock, Nicole Baumer, Susan Sparks

Am J Med Genet A· November 2015

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Neonatal hypotonia.
Susan E Sparks

Clin Perinatol· June 2015

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