Highlights From the 128th American Neurological Association Mtg
The American Neurological Association held its 128th annual meeting in San Francisco. From October 19-22, approximately 900 top-level clinicians and scientists came together to share the latest research data in the field of neurology and neuroscience. Abstracts based on these presentations were published in a special supplement issue of the Annals of Neurology (registration required).

Fabry's disease (FD) is an X chromosome-linked disorder of fat storage caused by a deficiency of ceramidetrihexosidase (also called alpha-galactosidase A), an enzyme used in the degradation of lipids. The mother of the affected individual must be a carrier to produce the disease in a child. Affected individuals typically develop a range of multiorgan-related symptoms, including burning and pain in the hands and feet, a spotted dark red skin rash (angiokeratomas), reduced ability to perspire, gastrointestinal hypermotility, and corneal changes. Symptoms of cardiac and renal involvement typically occur in middle age. Ringing of the ears (tinnitus) is common, and hearing defects also have been reported. Treatment for FD typically has been limited to symptomatic therapy. The disease is chronic and progressive in most cases.

Hajioff and colleagues enrolled 15 male patients with FD in a randomized, placebo-controlled, double-blind study of enzyme replacement therapy (ERT) using agalsidase alfa 0.2 mg/kg for 6 months, followed by a 2-year open-label treatment extension in 10 of the patients. High frequency sensorineural hearing loss (HF-SNHL) was present in 12 of 15 patients (80%) at the outset of the study. After 6 months, HF-SNHL progressed similarly in both groups. However, in the open-label ERT phase, HF-SNHL improved by 2.1 dB at 18 months (P = .02) and by 4.9 dB at 30 months (P = .004), compared with baseline.

These data suggest that ERT leads to delayed (but significant) progressive improvements in high frequency hearing function for patients with FD. The presenting investigator stated, "The improvement we saw was marginal yet significant. If this progressive improvement is sustained beyond the period we studied, this might have a significant impact on patients over the long-term." Regarding tolerability and safety of ERT, the presenter noted, "We did not observe any significant side effects in this study. However, the long-term effects of ERT are not known."