scholarly journals Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating Physicians

2011 ◽  
pp. 9-15 ◽  
Author(s):  
David J. Coman ◽  
Ian M. Hayes ◽  
Veronica Collins ◽  
Margaret Sahhar ◽  
J. Ed Wraith ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Newborn Screening ◽  
Replacement Therapy ◽  
Enzyme Replacement

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

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement
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