Individualized therapy in patients with Fabry disease: is it a feasible strategy for rare diseases?

ABSTRACT

Objective: To describe an individualized therapeutic strategy in patients with Fabry disease receiving enzyme replacement therapy (ERT) with agalsidase beta, in order to find the minimum effective dose based on clinical outcomes and estimate its impact on cost savings.

Methods: A multidisciplinary team was formed comprising professionals from the Cardiology, Nephrology, Neurology, and Pharmacy Departments of two Spanish general teaching hospitals. The initiation criteria for ERT were defined, and the clinical parameters on which the strategy was based were identified. Threshold values were established for each parameter in order to enable objective assessment of disease progress according to patients’ response to the dose administered.

Results: Renal, cardiac, and neurologic functions were monitored. After six months on agalsidase beta at a full dose, all clinical parameters were monitored every six months and a 10% dose reduction was implemented provided the patients were clinically stable until the minimum effective dose was reached. A total of €69,721 was saved in three patients so far over 31 months.

Conclusions: Our study made it possible to set objectives and clinical bases for initiation of individualized therapeutic strategies in patients with Fabry disease based on their response to ERT.

KEYWORDS:

• Fabry disease
• agalsidase beta
• rare diseases
• individualized medicine

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Additional information

Funding

This paper was not funded.