Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease

Abstract

Background: Enzyme replacement therapy significantly reduces morbidity and mortality in patients with Pompe disease. Development of hypersensitivity reactions to enzyme replacement therapy is common and can adversely affect disease outcomes when treatment is halted or delayed. Objective: Our institution reports a case of successful alglucosidase alfa enzyme replacement therapy desensitisation in a 9-year-old girl with infantile onset Pompe disease. Methods: A desensitisation protocol was tailored to our patient with the help of a multidisciplinary team including the allergist, geneticist, nurses and pharmacists. Results: For our patient, desensitisation was successful using a multi-step three-fold dose escalation protocol. Conclusion: Desensitisation is possible in individuals with hypersensitivity reactions to enzyme replacement. Desensitisation protocols need to be tailored according to the patient’s needs and responses to find a protocol that is safe, effective and simple.