Pompe disease is a lysosomal disease caused by the absence of an enzyme involved in the degradation of glycogen. Inherited in an autosomal recessive mode, it results in overload myopathy and almost constantly restrictive respiratory failure. Two forms are distinguished: the infant form (IOPD for Infant Onset Pump Disease) and a later onset form (LOPD for Late Onset Pump Disease). Enzyme replacement therapy (ERT), prescribed at a rate of 20 mg / kg every two weeks, has been on the market since 2006 and has greatly changed the natural history of this disease in children. However, ERT has limits as to its effectiveness, especially in children who develop a rejection reaction to this protein recognized as a foreign substance.
In an article published in August 2020, American clinicians report the development of a new protocol for immune tolerance induction (ITI) based on a cocktail combining rituximab, methotrexate and intravenous immunoglobulins, and intended for children with type of mutation of the GAA gene and / or CRIM status a priori predispose to a lower efficiency of ERT. The results of this study, carried out in 34 children with IOPD, 9 of whom had a CRIM-positive status, were found to be satisfactory both for the return to normal of the immune defenses beyond the five weeks of administration of the ITI, and for its safety. The effectiveness of the ERT has improved in the medium term.
