Home therapy for lysosomal storage disorders.

Lysosomal storage disorders (LSDs) are a group of rare inherited metabolic disorders each resulting from the deficiency of a specific lysosomal enzyme and leading to the pathological accumulation of undegraded substrate. There are now several possible modalities of therapy for LSDs including intravenous enzyme replacement therapy (ERT). ERT is administered by intravenous infusion every week or 2 weeks. Therapy is lifelong and therefore a serious undertaking for patients and healthcare providers. Most patients will travel some distance to their specialist LSD centre and may therefore find frequent visits stressful, time-consuming and disruptive. The facility to administer enzyme replacement therapy in the home limits time spent at the hospital, restores independence and control of the disease to the patient, and reduces utilization of hospital resources and is associated with improved quality of life. A recent questionnaire survey indicates high levels of compliance with infusions in the home setting. Home therapy requires a well organized and regulated community infrastructure, individual assessments of patient suitability and protocols for management of possible infusion associated reactions.