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Table 2 Prophylaxis protocols in naive patients

From: Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel

CRIM negative patients
RTX + MTX+ IVIG (short course, 5 weeks) [23, 34, 35]a
• RTX 375 mg/m2 IV (or if body surface area < 0.5 m2 = 12.5 mg/kg) weekly four times, the first dose given 1 day before the first ERT administration.
• MTX 0.4 mg/kg sc/orally, 3 doses per week or MTX 1 mg/kg/weekly [36] for almost 3 weeks with or without IVIG 400–500 mg/kg monthly for a period of 5–6 months (until B cell levels had reached normal values for age)
RTX + sirolimus or mycophenolate + IVIG [37]
• RTX IV: 750 mg/m2 10–14 days apart or 375 mg/m2 per week for 3 weeks (dosed depending on the infant’s clinical status and ability to tolerate IV fluids).
• Sirolimus 0.6–1 mg/m2 per day adjusted to maintain serum level of 3–7 ng/ml or mycophenolate 300 mg/m2 per day.
• IVIG 500–1000 mg/kg adjusted to maintain serum IgG levels of 700–1000 mg/dl.
• After an initial pre-ERT course of immunomodulation (3 weeks), ERT is initiated alongside maintenance with every 12-week RTX, daily sirolimus or mycophenolate mofetil and monthly IVIG administration.
CRIM positive patients
Low-dose MTX [17]
• MTX at 0.4 mg/kg body weight is administered on the day of ERT infusion subcutaneously (15 min before or orally 1 h before if subcutaneous administration is not possible) and again on the following 2 days with the first 3 ERT infusions.
RTX + MTX+ IVIG (short course, 5 weeks) [38]
• See above (CRIM negative patients)
  1. CRIM cross-reactive immunologic material, ERT enzyme replacement therapy, RTX rituximab, MTX methotrexate, IVIG intravenous immunoglobulins
  2. aBecause RTX is a monoclonal antibody, administering IVIG prior to RTX may saturate the FcRn receptor, thereby precluding recycling of RTX and its sustained activity [39] and therefore administration of RTX is recommended prior to IVIG [34]