CRIM negative patients | |
• 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) |