The use of alglucosidase alfa as a treatment in two patients with Lafora Disease

INTRODUCTION Lafora Disease is an ultra-rare progressive myoclonic epilepsy that affects previously healthy adolescents and leads to death in early adulthood. The pathogenic mechanism of the disease is associated with the accumulation of polyglucosans within neuronal cells (Lafora bodies). Currently, no approved treatments are available for this condition. Preliminary clinical experiences suggest the potential efficacy of treatment with recombinant human alglucosidase alfa, a therapy currently approved for Pompe disease. METHODS We administered alglucosidase alfa in two patients (aged 19 and 20 years old) with a dosage of 20 mg/kg every other week. The follow-up protocol included assessments before treatment initiation and scheduled at 3, 6, and 12 months. Specifically, data collection will include clinical evaluations, laboratory tests, video-EEG, the Clinical Scale for the Assessment of Ataxia, the Clinical Scale for the Assessment of Myoclonus, the Lafora Epilepsy Severity Scale (LESS), the Barthel Index, and the Clinical Global Impression-Improvement (CGI-I) scale completed by both the clinician and the caregiver. RESULTS The first patient is currently at a 1-month follow-up, while the second patient has completed the second infusion. Clinical evaluations, as well as reports from the family during this short follow-up period, indicate an improvement in overall clinical conditions. This includes a greater degree of independence in activities of daily living and cognitive improvement. Clinical data and assessments scheduled according to the protocol will be reported. CONCLUSION This study provides potential insights into the feasibility of using alglucosidase alfa in patients with Lafora disease. The possible positive effects of such treatment could fill a gap in the aetiological therapeutic management of these patients, for whom there is currently no therapeutic possibility.