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Hearing improvement in patients with Fabry disease treated with agalsidase alfa
Author(s) -
Hajioff D,
Goodwin S,
Quiney R,
Zuckerman J,
MacDermot KD,
Mehta A
Publication year - 2003
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2003.tb00217.x
Subject(s) - medicine , fabry disease , enzyme replacement therapy , hearing loss , sensorineural hearing loss , placebo , pure tone audiometry , audiometry , audiology , surgery , disease , alternative medicine , pathology
Aim : To describe the nature and prevalence of hearing loss in Fabry disease, and its response to enzyme replacement therapy (ERT) with agalsidase alfa. Methods : Fifteen male patients with Fabry disease were enrolled in a randomized, double‐blind study and received placebo ( n = 8) or ERT ( n = 7) with agalsidase alfa for 6 months. This was followed by an open‐label extension of 36 months thus far. Alongside this trial, an additional eight men and two women have so far received open‐label ERT for between 6 and 30 months. Pure‐tone audiometry, impedance audio‐metry and otoacoustic emission testing were performed at 0 (baseline), 6, 18, 30 and 42 months. Results : Nine patients (36%) had bilateral and ten (40%) had unilateral high‐frequency sensorineural hearing loss (SNHL). Three (12%) had unilateral middle ear effusions with conductive losses persisting beyond 6 months. Only five patients (20%) had normal hearing. The high‐frequency SNHL deteriorated over the first 6 months in both placebo and active treatment groups by a median 6.3 dB ( p < 0.0001, Wilcoxon matched‐pairs). This hearing loss subsequently improved above baseline by 1.5 dB at 18 months (p = 0.07), by 5.0 dB at 30 months ( p = 0.006) and by 4.0 dB at 42 months ( p = 0.01). Conclusion : Significant hearing loss, usually high‐frequency SNHL, is a common manifestation of Fabry disease in adults. α‐Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement, however, is gradual, suggesting the need for long‐term ERT.