Other checks showed a low IgG antibody titer (1:200), no match activation, but serum tryptase was elevated

Other checks showed a low IgG antibody titer (1:200), no match activation, but serum tryptase was elevated. a young child (IgE bad), we implemented a desensitization protocol, that started by administering a reduced dose of alglucosidase alfa (10 mg/kg weekly) instead of the standard (20 mg/kg biweekly) using serial micro-dilutions that were separately prepared and delivered in a highly regulated manner based on individuals medical manifestations and tolerance. Results Successful desensitization was accomplished in both individuals, allowing them to eventually continue to receive the full dose of ERT securely. Conclusion Therapeutic demands in babies and young children with PD need to be tailored according to the patient presentation, and underlying cardiac and fluid-volume status. Desensitization allowed both individuals to continue alglucosidase alfa treatment in the recommended dose without long term interruption of therapy, or further reactions. strong class=”kwd-title” Keywords: Alglucosidase alfa, Infantile Pompe disease, Hypersensitivity reactions, Desensitization 1. Intro Pompe disease (PD) is definitely a lysosomal storage disorder (LSD) caused by defficiency of lysosomal acid alpha glucosidase (GAA) [1]. Alglucosidase alfa (Myozyme?, Lumizyme?, Genzyme Corporation, Cambridge, MA) is the only available enzyme alternative therapy that has been authorized for treatment of PD. The standard recommended dose is definitely 20 mg/kg every 2 weeks [2], some babies have required doses up to 40 mg/kg every 2 weeks (PSK personal encounter). Babies with PD who have been treated with alglucosidase alfa showed improved longevity, ventilator-free survival, cardiomyopathy and engine functions [3C5]. However, as is the case with other forms of protein centered therapy [6C10], infusion of alglucosidase alfa has been associated with reactions (IARs) of variable severity. This has been underscored in the boxed warning included in the prescription package of alglucosidase alfa where IARs reportedly happen in 51% of individuals on ERT [2]. Medical tests and post-marketing security studies showed that 1% of individuals treated with alglucosidase alfa formulated anaphylactic shock and/or cardiac arrest that needed life-support CGI1746 actions, and 14% formulated CGI1746 allergic reactions that involved at least 2 of 3 body systems [2]. In babies and young children with PD, IARs generally are mild, producing non-specific symptoms, such as headache, dizziness, nausea, vomiting, fatigue, sweating, and pruritis during or after treatment. Severe or significant hypersensitivity reactions range from limited reactions such as generalized CGI1746 hives to more severe, multi-systemic reactions that may include cardiac (e.g., hypotension, tachycardia), respiratory (e.g., bronchospasm, dyspnea, laryngeal edema), cutaneous (e.g. rash, urticaria, angioedema) and/or gastrointestinal (e.g., abdominal pain or cramping, vomiting) manifestations. Hypersensitivity IL5RA reactions are usually but not constantly IgE-mediated, while IARs are non-immune mediated and are IgE-negative [11]. General actions against anaphylactic reactions including premedication with antihistamines, antipyretics, and/or corticosteroids, short interruption of the infusion and slowed infusion rates have been successful in the CGI1746 management of IARs in individuals receiving ERT due to additional LSDs [12C14]. However, when these actions fail to prevent severe/recurrent reactions, desensitization is definitely indicated and offers allowed a child with Gaucher disease [15] and an adult with late onset Pompe disease to continue ERT [16]. Desensitization protocols in babies and young children with PD require vigilance to unique considerations such as the need for administration of a large amount of protein for medical benefits to happen, and the restricted amount of fluid intake allowed due to underlying cardiomyopathy. We present herein, the medical presentation and management details of 2 individuals with early onset PD who have undergone successful desensitization to alglucosidase alfa after individualized modifications were made to the standard protocol. The first individual CGI1746 experienced infantile PD and was IgE-positive; the second patient had severe juvenile-onset.