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Priya S Kishnani – One of the best experts on this subject based on the ideXlab platform.

  • Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
    Journal of neurology, 2020
    Co-Authors: David W Stockton, Ans T. Van Der Ploeg, Priya S Kishnani, Barry J. Byrne, Matthias Boentert, Mark Roberts, Roberto Araujo, Sonia S. Maruti, Juan Clinton Llerena, Nathan Thibault
    Abstract:

    To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with Alglucosidase Alfa by assessing the longitudinal course of forced vitavital capacity (FVC), prognostic factors for FVC, and impact of time from diagnosis to ERT initiation. Longitudinal FVC data from LOPD (symptom onset > 12 months or ≤ 12 months without cardiomyopathy) patients were analyzed. Patients had to have baseline FVC (percent predicted upright) assessments at ERT start and ≥ 2 valid post-baseline assessments. Longitudinal analyses used linear mixed-regression models. Among 396 eligible patients, median baseline FVC was 66.9% (range 9.3–126.0). FVC remained stable during the 5-year follow-up (slope = − 0.17%, p = 0.21). Baseline FVC was lower among various subgroups, including patients who were male; older at ERT initiation; had a longer duration from symptom onset to ERT initiation; and had more advanced disease at baseline (based on respiratory support use, inability to ambulate, ambulation device use). Age at symptom onset was not associated with baseline degree of respiratory dysfunction. Differences between subgroups observed at baseline remained during follow-up. Shorter time from diagnosis to ERT initiation was associated with higher FVC after 5 years in all patients and the above subgroups using a cut-off of 1.7 years. FVC stability over 5 years suggests that respiratory function is preserved during long-term ERT in real-world settings. Early initiation of Alglucosidase Alfa was associated with preservation of FVC in LOPD patients with better respiratory function at the time of treatment initiation.

  • Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2019
    Co-Authors: Priya S Kishnani, Nancy D Leslie, Loren D.m. Pena, David Kronn, Pranoot Tanpaiboon, Michael J Gambello, James B Gibson, Richard Hillman, David W Stockton, John W. Day
    Abstract:

    To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale Alglucosidase Alfa (NCT01526785), the largest prospective United States Pompe disease cohort to date. Patients aged ≥1 year with confirmed Pompe disease previously receiving 160 L Alglucosidase Alfa were eligible. GAA genotypes were determined before/at enrollment. Baseline assessments included histories/physical exams, Gross Motor Function Measure-88 (GMFM-88), pulmonary function tests, and cardiac assessments. Of 113 enrollees (60 male/53 female) aged 1–18 years, 87 had infantile-onset Pompe disease (IOPD) and 26 late-onset (LOPD). One hundred eight enrollees with GAA genotypes had 215 pathogenic variants (220 including combinations): 118 missense (4 combinations), 23 splice, 35 nonsense, 34 insertions/deletions, 9 duplications (1 combination), 6 other; c.2560C>T (n = 23), c.−32-13T>G (n = 13), and c.525delT (n = 12) were most common. Four patients had previously unpublished variants, and 14/83 (17%) genotyped IOPD patients were cross-reactive immunological material–negative. All IOPD and 6/26 LOPD patients had cardiac involvement, all without c.−32−13T>G. Thirty-two (26 IOPD, 6 LOPD) were invasively ventilated. GMFM-88 total %scores (mean ± SD, median, range): overall 46.3 ± 33.0% (47.9%, 0.0–100.0%), IOPD 41.6 ± 31.64% (38.9%, 0.0–99.7%), LOPD: 61.8 ± 33.2 (70.9%, 0.0–100.0%). ADVANCE, a uniformly assessed cohort comprising most US children and adolescents with treated Pompe disease, expands understanding of the phenotype and observed variants in the United States.

  • Enzyme replacement therapy with Alglucosidase Alfa in Pompe disease: Clinical experience with rate escalation.
    Molecular genetics and metabolism, 2017
    Co-Authors: Ankit K. Desai, Stephanie Dearmey, Crista Walters, Heidi L. Cope, Zoheb B. Kazi, Priya S Kishnani
    Abstract:

    Abstract Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with Alglucosidase Alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3 h 45 min for a patient receiving the standard dose of 20 mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40 mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6 h 36 min. Increased infusion durations compound the psychosocial burden on patients and families and potentially further disrupt family activities and obligations. We developed a stepwise infusion rate escalation protocol to administer higher dose ERT safely while decreasing infusion duration, which has been implemented in 15 patients to date. Reported here in detail are five patients with IOPD on 40 mg/kg/weekly ERT in whom infusion duration was decreased with individualized, stepwise rate escalation. All patients tolerated rate escalations above the recommended rates without experiencing any infusion associated reactions and experienced a reduction in infusion duration by 1 h and 24 min with a corresponding increase in reported satisfaction. Our experience with ERT rate escalation is presented. Synopsis A careful stepwise method of enzyme replacement therapy (ERT) rate escalation can safely reduce infusion duration in patients with Pompe disease.

Ans T. Van Der Ploeg – One of the best experts on this subject based on the ideXlab platform.

  • Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
    Journal of neurology, 2020
    Co-Authors: David W Stockton, Ans T. Van Der Ploeg, Priya S Kishnani, Barry J. Byrne, Matthias Boentert, Mark Roberts, Roberto Araujo, Sonia S. Maruti, Juan Clinton Llerena, Nathan Thibault
    Abstract:

    To examine respiratory muscle function among late-onset Pompe disease (LOPD) patients in the Pompe Registry (NCT00231400/Sanofi Genzyme) during enzyme replacement therapy (ERT) with Alglucosidase Alfa by assessing the longitudinal course of forced vital capacity (FVC), prognostic factors for FVC, and impact of time from diagnosis to ERT initiation. Longitudinal FVC data from LOPD (symptom onset > 12 months or ≤ 12 months without cardiomyopathy) patients were analyzed. Patients had to have baseline FVC (percent predicted upright) assessments at ERT start and ≥ 2 valid post-baseline assessments. Longitudinal analyses used linear mixed-regression models. Among 396 eligible patients, median baseline FVC was 66.9% (range 9.3–126.0). FVC remained stable during the 5-year follow-up (slope = − 0.17%, p = 0.21). Baseline FVC was lower among various subgroups, including patients who were male; older at ERT initiation; had a longer duration from symptom onset to ERT initiation; and had more advanced disease at baseline (based on respiratory support use, inability to ambulate, ambulation device use). Age at symptom onset was not associated with baseline degree of respiratory dysfunction. Differences between subgroups observed at baseline remained during follow-up. Shorter time from diagnosis to ERT initiation was associated with higher FVC after 5 years in all patients and the above subgroups using a cut-off of 1.7 years. FVC stability over 5 years suggests that respiratory function is preserved during long-term ERT in real-world settings. Early initiation of Alglucosidase Alfa was associated with preservation of FVC in LOPD patients with better respiratory function at the time of treatment initiation.

  • Cost-effectiveness of enzyme replacement therapy with Alglucosidase Alfa in adult patients with Pompe disease.
    Orphanet journal of rare diseases, 2017
    Co-Authors: Tim A. Kanters, Ans T. Van Der Ploeg, Michelle E. Kruijshaar, Dimitris Rizopoulos, W. Ken Redekop, Maureen P. M. H. Rutten-van Mӧlken, Leona Hakkaart-van Roijen
    Abstract:

    Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with Alglucosidase Alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigates the cost-effectiveness of ERT compared to supportive treatment in adult patients with Pompe disease. Survival probabilities were estimated from an international observational dataset (n = 283) using a time-dependent Cox model. Quality of life was estimated on a Dutch observational dataset using a previously developed conceptual model which links clinical factors to quality of life. Costs included costs of ERT, costs of drug administration and other healthcare costs. Cost-effectiveness was estimated using a patient-level simulation model (n = 90), synthesising the information from underlying models for survival, quality of life and costs. The cost-effectiveness model estimated the (difference in) lifetime effects and costs for both treatments. Two scenarios were modelled: (1) a worse case scenario with no extrapolation of the survival gain due to ERT beyond the observed period (i.e. from 10 years onwards); and (2) a best case scenario with lifetime extrapolation of the survival gain due to ERT. Effects were expressed in (quality adjusted) life years (QALYs). Costs were discounted at 4.0% and effects at 1.5%. Substantial increases in survival were estimated – discounted incremental life years of ERT ranged from 1.9 years to 5.4 years in the scenarios without and with extrapolation of survival gains beyond the observed period. Quality of life was also significantly better for patients receiving ERT. Incremental costs were considerable and primarily consisted of the costs of ERT. Incremental costs per QALY were €3.2 million for scenario 1 and €1.8 million for scenario 2. The availability of extended, prospectively collected, longitudinal observational data on the most important input parameters required to construct a cost-effectiveness model is quite exceptional for orphan diseases. The cost-effectiveness model showed substantial survival gains from ERT. Despite these substantial gains, ERT was not cost-effective in the treatment of adult Pompe disease because of the high cost of treatment.

  • Long-Term Efficacy of Alglucosidase Alfa in Late-Onset Pompe Disease (P1.120)
    Neurology, 2017
    Co-Authors: Paula R. Clemens, Pascal Laforêt, Katherine Kacena, Bernd-jan Sanson, Robert J. Hopkin, Ans T. Van Der Ploeg
    Abstract:

    Objective: To examine the long-term effects of Alglucosidase Alfa on ambulatory function, respiratory function, and survival in LOPD patients. Background: Alglucosidase Alfa has been shown to improve survival as well as respiratory and muscle function in patients with infantile-onset (IOPD) and late-onset Pompe disease (LOPD). However, there is relatively little data on long-term efficacy. Design/Methods: Data was integrated from 68 (32 F, 36 M) patients receiving up to 9 years of treatment with Alglucosidase Alfa during participation in 2 sequential clinical studies with Alglucosidase Alfa, a randomized, double blind, placebocontrolled study (LOTS, NCT00158600) and its open-label extension (NCT00455195), and in the ongoing observational Pompe Registry. Results: Mean age at symptom onset was 28.7 years (range: 2.7–53.6) and mean age at diagnosis was 34.9 years (range: 5.8–61.3). Mean age at first infusion of Alglucosidase Alfa was 45.8 years (range: 16–70). 71% of the 42 patients who were ventilator free at baseline remained ventilator free during follow-up. The estimated annual decline in % predicted upright forced vitavital capacity (FVC) prior to initiation of Alglucosidase Alfa was 1.3% per year, while that observed during the follow-up period was 0.78%. 53% of the 34 patients who were not using ambulatory support at baseline maintained independent ambulation during follow-up. Percent predicted 6WMD increased for the first 2–3 years after initiation of Alglucosidase Alfa, followed by a relatively modest decline over the next 3 years, for an absolute decrease of 6.4% over the first 6 years of treatment. 4 (5.9%) patients died during the follow-up period. Conclusions: Long-term treatment with Alglucosidase Alfa was associated with stabilization of respiratory and ambulatory function during the first 6 years of treatment. These data support the ability of Alglucosidase Alfa to slow disease progprogression and the long-term use of Alglucosidase Alfa in patients with LOPD. Study Supported by: Sanofi Genzyme Disclosure: Dr. Clemens has received personal compensation for activities with Sanofi Genzyme. Dr. Laforet has received personal compensation for activities with Sanofi Genzyme and Amicus Therapeutics for serving on a scientific advisory board. Dr. Kacena has received personal compensation for activities with Sanofi Genzyme as an employee. Dr. Sanson has received personal compensation for activities with Sanofi Genzyme as an employee. Dr. Hopkin has nothing to disclose. Dr. Van Der Ploeg has received personal compensation for activities with Sanofi Genzyme as a consultant.

Stephanie Dearmey – One of the best experts on this subject based on the ideXlab platform.

  • Enzyme replacement therapy with Alglucosidase Alfa in Pompe disease: Clinical experience with rate escalation.
    Molecular genetics and metabolism, 2017
    Co-Authors: Ankit K. Desai, Stephanie Dearmey, Crista Walters, Heidi L. Cope, Zoheb B. Kazi, Priya S Kishnani
    Abstract:

    Abstract Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with Alglucosidase Alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3 h 45 min for a patient receiving the standard dose of 20 mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40 mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6 h 36 min. Increased infusion durations compound the psychosocial burden on patients and families and potentially further disrupt family activities and obligations. We developed a stepwise infusion rate escalation protocol to administer higher dose ERT safely while decreasing infusion duration, which has been implemented in 15 patients to date. Reported here in detail are five patients with IOPD on 40 mg/kg/weekly ERT in whom infusion duration was decreased with individualized, stepwise rate escalation. All patients tolerated rate escalations above the recommended rates without experiencing any infusion associated reactions and experienced a reduction in infusion duration by 1 h and 24 min with a corresponding increase in reported satisfaction. Our experience with ERT rate escalation is presented. Synopsis A careful stepwise method of enzyme replacement therapy (ERT) rate escalation can safely reduce infusion duration in patients with Pompe disease.

  • Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.
    Journal of neuromuscular diseases, 2015
    Co-Authors: Priya S Kishnani, Stephanie Dearmey, Deeksha Bali, Zoheb B. Kazi, Kathryn L. Berrier, Amy S. Rosenberg
    Abstract:

    Enzyme replacement therapy (ERT) with Alglucosidase Alfa has improved clinical outcomes and prolonged survival for patients with infantile Pompe disease (IPD). However, patients characterised as Cross-Reactive Immunological Material (CRIM)negative (CN) mount an immune response against ERT resulting in clinical decline and, ultimately, death. A prophylactic immune tolerance induction (ITI) protocol has been successful in preventing the development of antibody titres for these patients. A subset of (CP) patients also mount an immune response with poor clinical outcomes, these at-risk patients are diffi cult to identify. With the advent of newborn screening for Pompe disease, preventative treatment to circumvent an immune response is warranted; therefore, our study aimed to assess the safety and effi cacy of prophylactic ITI in the naive setting for both CP and CN IPD patients.

  • Safety and efficacy of alternative Alglucosidase Alfa regimens in Pompe disease
    Neuromuscular disorders : NMD, 2014
    Co-Authors: Laura E. Case, John P Clancy, Joel Charrow, Claire Morgan, Stephanie Dearmey, Carl Bjartmar, Robin Casey, Majed Dasouki, Khan Nedd, Mary Nevins
    Abstract:

    Emerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement therapy (ERT) (Alglucosidase Alfa 20 mg/kg/2 weeks) can include patients with worsening motor function. Whether higher doses of ERT improve skeletal function in these patients has not been systematically studied. This exploratory, randomized, open-label, 52-week study examined the safety and efficacy of 2 ERT regimens of Alglucosidase Alfa (20 mg/kg/week or 40 mg/kg/2 weeks) in 13 patients with Pompe disease and clinical decline or a lack of improvement on standard ERT: late-onset (n = 4), infantile-onset (n = 9). Cross-reactive immunologic material assay-negative patients were excluded. Eleven of 13 patients completed the study. Trends for improvement were seen in total gross motor function, but not mobility; however, 6 (late-onset, 2; infantile-onset, 4) of 11 patients (55%) who met the entry criteria of motor decline (late-onset, 4; infantile-onset, 7) showed improvement in motor and/or mobility skills. No between-regimen differences in efficacy emerged. Two case studies highlight the benefits of increased ERT dose in patients with Pompe disease experiencing clinical decline. Both alternative regimens were generally well tolerated. This study was limited by the small sample size, which is not uncommon for small clinical studies of rare diseases. Additionally, the study did not include direct assessment of muscle pathology, which may have identified potential causes of decreased response to ERT. Results were inconclusive but suggest that increased ERT dose may be beneficial in some patients with Pompe disease experiencing motor decline. Controlled studies are needed to clarify the benefits and risks of this strategy.

Laura E. Case – One of the best experts on this subject based on the ideXlab platform.

  • Alglucosidase Alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
    Molecular genetics and metabolism, 2016
    Co-Authors: Stephanie L Austin, Laura E. Case, Baodong Sun, Andrew Chiou, Kenny Govendrageloo, Perrin Hansen, Priya S Kishnani
    Abstract:

    PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardcardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with AlglucosidaseAlfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutamutation in the GAA gene. At 2.5months, the patient had hypotonia/generalized muscle weakness, a diagnosis of non-classic infantile Pompe disease was made based on low acid alpha-glucosidase activity and the patient started on ERT at 11months. However, 1month later, the patient began to have seizures. As the patient’s medical history was somewhat unusual for infantile Pompe disease, further evaluation was initiated and included a glycogen storage disease sequencing panel which showed that the patient had a pathogenic mutation in PRKAG2 which had been reported previously. ERT was discontinued and patient had a progression of motor deficits. ERT was reinitiated by the treating physician, and a clinical benefit was noted. This report outlines the benefits of ERT with Alglucosidase Alfa in a patient with PRKAG2 syndrome, the decline in his condition when the ERT infusions were discontinued, and the significant positive response when ERT was reinitiated. Copyright © 2016 Elsevier Inc. All rights reserved.

  • Alglucosidase Alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation
    Molecular Genetics and Metabolism, 2016
    Co-Authors: Stephanie Austin, Laura E. Case, Baodong Sun, Andrew Chiou, Kenny Govendrageloo, Perrin Hansen, Priya S Kishnani
    Abstract:

    Abstract Objective PRKAG2 syndrome, an autosomal dominant disorder, is characterized by severe infantile hypertrophic cardcardiomyopathy and heart rhythm disturbances to cases with a later presentation and a spectrum of manifestations including cardiac manifestations, myopathy and seizures. The cardiac features of PRKAG2 resemble the cardiac manifestations of Pompe disease. We present a patient who was initially diagnosed with Pompe disease and treated with AlglucosidaseAlfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutamutation in the GAA gene. Case report At 2.5 months, the patient had hypotonia/generalized muscle weakness, a diagnosis of non-classic infantile Pompe disease was made based on low acid alpha-glucosidase activity and the patient started on ERT at 11 months. However, 1 month later, the patient began to have seizures. As the patient’s medical history was somewhat unusual for infantile Pompe disease, further evaluation was initiated and included a glycogen storage disease sequencing panel which showed that the patient had a pathogenic mutation in PRKAG2 which had been reported previously. ERT was discontinued and patient had a progression of motor deficits. ERT was reinitiated by the treating physician, and a clinical benefit was noted. Conclusion This report outlines the benefits of ERT with Alglucosidase Alfa in a patient with PRKAG2 syndrome, the decline in his condition when the ERT infusions were discontinued, and the significant positive response when ERT was reinitiated.

  • Safety and efficacy of alternative Alglucosidase Alfa regimens in Pompe disease
    Neuromuscular disorders : NMD, 2014
    Co-Authors: Laura E. Case, John P Clancy, Joel Charrow, Claire Morgan, Stephanie Dearmey, Carl Bjartmar, Robin Casey, Majed Dasouki, Khan Nedd, Mary Nevins
    Abstract:

    Emerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement therapy (ERT) (Alglucosidase Alfa 20 mg/kg/2 weeks) can include patients with worsening motor function. Whether higher doses of ERT improve skeletal function in these patients has not been systematically studied. This exploratory, randomized, open-label, 52-week study examined the safety and efficacy of 2 ERT regimens of Alglucosidase Alfa (20 mg/kg/week or 40 mg/kg/2 weeks) in 13 patients with Pompe disease and clinical decline or a lack of improvement on standard ERT: late-onset (n = 4), infantile-onset (n = 9). Cross-reactive immunologic material assay-negative patients were excluded. Eleven of 13 patients completed the study. Trends for improvement were seen in total gross motor function, but not mobility; however, 6 (late-onset, 2; infantile-onset, 4) of 11 patients (55%) who met the entry criteria of motor decline (late-onset, 4; infantile-onset, 7) showed improvement in motor and/or mobility skills. No between-regimen differences in efficacy emerged. Two case studies highlight the benefits of increased ERT dose in patients with Pompe disease experiencing clinical decline. Both alternative regimens were generally well tolerated. This study was limited by the small sample size, which is not uncommon for small clinical studies of rare diseases. Additionally, the study did not include direct assessment of muscle pathology, which may have identified potential causes of decreased response to ERT. Results were inconclusive but suggest that increased ERT dose may be beneficial in some patients with Pompe disease experiencing motor decline. Controlled studies are needed to clarify the benefits and risks of this strategy.

Yuan-tsong Chen – One of the best experts on this subject based on the ideXlab platform.

  • Alglucosidase Alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
    Molecular genetics and metabolism, 2012
    Co-Authors: Baodong Sun, Beth L. Thurberg, Keri Fredrickson, Stephanie Austin, Adviye A. Tolun, William E. Kraus, Deeksha Bali, Yuan-tsong Chen, Priya S Kishnani
    Abstract:

    We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase Alfa), an FDA approved therapy for Pompe disease, as a treatment approach for glycogen storage disease type III (GSD III). An in vitro disease model was established by isolating primary myoblasts from skeletal muscle biopsies of patients with GSD IIIa. We demonstrated that rhGAA significantly reduced glycogen levels in the two GSD IIIa patients’ muscle cells (by 17% and 48%, respectively) suggesting that rhGAA could be a novel therapy for GSD III. This conclusion needs to be confirmed in other in vivo models.

  • glycogen storage disease types i and ii treatment updates
    Journal of Inherited Metabolic Disease, 2007
    Co-Authors: Dwight D. Koeberl, Priya S Kishnani, Yuan-tsong Chen
    Abstract:

    Prior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long-term complications of GSD type I (GSD I) have not responded to dietary therapy with uncooked cornstarch or continuous gastric feeding. The recognized significant risk of renal disease and liver malignancy in GSD I has prompted efforts towards curative therapy, including organ trantransplantation, in those deemed at risk. Results of clinical trials in infantile Pompe disease with Alglucosidase Alfa (Myozyme) showed prolonged survival reversal of cardiomyopathy, and motor gains. This resulted in broad label approval of Myozyme for Pompe disease in 2006. Furthermore, the development of experimental therapies, such as adeno-associated virus (AAV) vector-mediated gene therapy, holds promise for the availability of curative therapy in GSD I and GSD II/Pompe disease in the future.