The impact of enzyme replacement therapy on the progression of Pompe disease

2015 ◽  
Vol 25 ◽  
pp. S189 ◽  
Author(s):  
M. De Antonio ◽  
D. Hamroun ◽  
B. Perniconi ◽  
N. Taouagh ◽  
E. Salort-Campana ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
The Impact

Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy

2016 ◽  
Vol 31 (14) ◽  
pp. 1617-1621 ◽  
Author(s):  
Chih-Jou Lai ◽  
Ting-Rong Hsu ◽  
Chia-Feng Yang ◽  
Shyi-Jou Chen ◽  
Ya-Chin Chuang ◽  
...  
Keyword(s):  
Cognitive Development ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Motor Development ◽  
Pompe Disease ◽  
Screening Program ◽  
Enzyme Replacement ◽  
The Impact ◽  
Bayley Scales ◽  
Clinical Diagnostic Criteria

Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development–Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period ( P = .18 > .05). The cognitive development was positively correlated with motor development ( r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age.

scholarly journals The impact of interrupting enzyme replacement therapy in late-onset Pompe disease

2021 ◽  
Author(s):  
Stephan Wenninger ◽  
Kristina Gutschmidt ◽  
Corinna Wirner ◽  
Krisztina Einvag ◽  
Federica Montagnese ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Adverse Events ◽  
Enzyme Replacement Therapy ◽  
Pulmonary Function ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Late Onset ◽  
Pulmonary Function Tests ◽  
Enzyme Replacement ◽  
The Impact

Abstract Background Late-onset Pompe disease (LOPD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to progressive weakness of locomotor and respiratory muscles. Enzyme replacement therapy (ERT), administered every second week, has been proven to slow down disease progression and stabilize pulmonary function. Due to the COVID-19 pandemic in Germany, ERT was interrupted at our centre for 29 days. As reports on ERT discontinuation in LOPD are rare, our study aimed to analyse the impact of ERT interruption on the change in clinical outcome. Methods We performed a prospective cohort study in 12 LOPD patients. Clinical assessments were performed after ERT interruption and after the next three consecutive infusions. We assessed motor function by muscle strength testing, a 6-minute-walk-test, pulmonary function tests, and adverse events. For statistical analysis, an estimated baseline was calculated based on the individual yearly decline. Results The mean time of ERT interruption was 49.42 days (SD ± 12.54). During ERT interruption, seven patients reported 14 adverse events and two of them were severe. Frequent symptoms were reduced muscle endurance/increased muscle fatigability and shortness of breath/worsening of breathing impairment. After ERT interruption, significant deterioration was found for MIP%pred (p = 0.026) and MRC%pred, as well as a trend to clinical deterioration in FVC%pred and the 6MWT%pred. Conclusion Interruption of ERT was associated with a deterioration in the core clinical outcome measures. Therefore, an interruption of ERT should be kept as short as possible.

scholarly journals Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Chien-Yu Hsueh ◽  
Chii-Yuan Huang ◽  
Chia-Feng Yang ◽  
Chia-Chen Chang ◽  
Wei-Sheng Lin ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Newborn Screening ◽  
Replacement Therapy ◽  
Hearing Impairment ◽  
Pompe Disease ◽  
Pure Tone Audiometry ◽  
Initial Time ◽  
Enzyme Replacement ◽  
Hearing Outcomes ◽  
The Impact

Abstract Background Studies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-term survivors. However, the benefits of early ERT for hearing outcomes have not yet been reported. This study aimed to investigate the impact of early ERT on IOPD patients. Methods This retrospective longitudinal study recruited IOPD patients who were referred by newborn screening for confirmatory diagnosis based on our rapid diagnostic criteria and received early ERT treatment between January 1, 2010, and January 31, 2018. The hearing test battery included a tympanogram, otoacoustic emission, auditory brainstem evoked response (ABR), pure-tone audiometry or conditioned play audiometry. Results Nineteen patients with IOPD were identified, 6 of whom had hearing impairment (HI); 1 had conductive HI, 2 had sensorineural HI (one had bilateral mild HI and one had mild HI in a single ear) and 1 had moderate mixed-type HI. Two patients failed the newborn screening test and had mild HI in the ABR. The mean age of the initial time to ERT was 11.05 ± 4.31 days, and the HI rate was 31.6% (6/19). Conclusion Our study is the largest cohort to show the characteristic hearing outcomes of IOPD patients after ERT. Early ERT within 2 weeks after birth may contribute to better hearing outcomes. Clinicians should be vigilant in testing for the hearing issues associated with IOPD and should intervene early if any HI is detected.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

2005 ◽  
Vol 36 (02) ◽  
Author(s):  
M Smitka ◽  
M von der Hagen ◽  
A Kaindl ◽  
C Gilitzer ◽  
J Dumontier ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement ◽  
Motor Improvement

Description of a patient with infantile onset Pompe disease after 45 months of enzyme replacement therapy

2018 ◽  
Vol 123 (2) ◽  
pp. S124-S125
Author(s):  
Roberto Sandobal Pacheco ◽  
Diana Espinosa Villanueva ◽  
Adriana Alcnatara Salinas ◽  
Jorge A. Romero Ramirez ◽  
Jose Antonio Vasquez Galeana ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Enzyme Replacement

Improved Exercise Tolerance after Enzyme Replacement Therapy in Pompe Disease

2012 ◽  
Vol 44 (5) ◽  
pp. 771-775 ◽  
Author(s):  
MAURO MARZORATI ◽  
SIMONE PORCELLI ◽  
BARBARA REGGIORI ◽  
LUCIA MORANDI ◽  
BRUNO GRASSI
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Exercise Tolerance ◽  
Enzyme Replacement
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