{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T05:56:05Z","timestamp":1791179765714,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,10,8]],"date-time":"2003-10-08T00:00:00Z","timestamp":1065571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fabry disease is an X\u2010linked disorder caused by a deficiency of lysosomal \u03b1\u2010galactosidase A resulting in accumulation of \u03b1\u2010<jats:sc>D<\/jats:sc>\u2010galatosyl conjugated glycosphingolipids. Clinical manifestations include a small\u2010fiber neuropathy associated with debilitating pain and hypohidrosis. We report the effect of a 3\u2010year open\u2010label extension of a previously reported 6\u2010month placebo\u2010controlled enzyme replacement therapy (ERT) trial in which 26 hemizygous patients with Fabry disease received 0.2 mg\/kg of \u03b1\u2010galactosidase A every 2 weeks. The effect of ERT on neuropathic pain scores while off pain medications, quantitative sensory testing, quantitative sudomotor axon reflex test (QSART), and thermoregulatory sweat test (TST) is reported. In the patients who crossed\u2010over from placebo to ERT (<jats:italic>n<\/jats:italic> = 10), mean pain\u2010at\u2010its\u2010worst scores on a 0\u201310 scale decreased (from 6.9 to 4.5). There was a significant reduction in the threshold for cold and warm sensation in the foot. At the 3\u2010year time\u2010point, pre\u2010ERT sweat excretion in 17 Fabry patients was 0.24 \u00b1 0.33 \u03bcl\/mm<jats:sup>2<\/jats:sup> vs. 1.05 \u00b1 0.81 in concurrent controls (<jats:italic>n<\/jats:italic> = 38). Sweat function improved 24\u201372 h post\u2010enzyme infusion (0.57 \u00b1 0.71 \u03bcl\/mm<jats:sup>2<\/jats:sup>) and normalized in four anhidrotic patients. TST confirmed the QSART results. We conclude that prolonged ERT in Fabry disease leads to a modest but significant improvement in the clinical manifestations of the small\u2010fiber neuropathy associated with this disorder. QSART may be useful to further optimize the dose and frequency of ERT. 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