• Dolores Canales-Siguero, Carmen García-Muñoz, Pilar Quijada Fraile, Montserrat Morales Conejo, José Miguel Ferrari-Piquero, and Elena Martín-Hernández.
• Servicio de Farmacia, Hospital Universitario 12 de Octubre, Instituto de Investigación Hospital 12 de Octubre, Madrid, España. Electronic address: mcanales@salud.madrid.org.
• Med Clin (Barc). 2022 Oct 28; 159 (8): 380384380-384.

ObjectivesIdentify the efficacy variables collected in the literature for therapies used in lysosomal storage diseases (LDS), evaluate the quality of this evidence, and know the effectiveness and safety of these treatments.Material And MethodsRetrospective observational study that included patients with LDS treated with enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Published clinical trials (CT) and LDS treatment guidelines were reviewed to select efficacy variables. Data to measure them (and adverse effects) were obtained from the medical history.ResultsNo CTs have been found in which efficacy is evaluated with final variables, all have been surrogated. Twenty-two patients were included: eight with Gaucher disease, six with Niemann-PickC disease, two with Hunter disease, one with Morquio-A disease, and five with Pompe disease. Eight patients have responded to ERT and one to SRT with eliglustat. ERT has not been associated with adverse effects. Miglustat has produced tolerance problems, requiring a change in a patient.ConclusionsThe effectiveness was variable according to the pathology. Regarding safety, manageable adverse reactions to SRT were associated with dosage adjustments.Copyright © 2022 Elsevier España, S.L.U. All rights reserved.

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