Table 1.
Examples of medications used in the treatment of lysosomal storage disorders
| Drug | Indication(s) | How supplied* | Dose | Route | Evidence level | |
|---|---|---|---|---|---|---|
| 1 | Agalsidase-α (Replagal) | Fabry disease | 1 mg/ml solution for infusion | 0.2 mg/kg every 2 weeks as IV infusion over 40 min11 16 | IV | 1b |
| 2 | Agalsidase-β (Fabrazyme) | Fabry disease | 5 mg and 35 mg single-use vials for reconstitution to yield (5 mg/ml) | 1 mg/kg every 2 weeks as IV infusion over 2–4 h11 17 | IV | 1b |
| 3 | Alglucosidase-α (Myozyme) | Pompe disease (GSD II) | 50 mg single-use vials for reconstitution to yield (5 mg/ml) | 20 mg/kg every 2 weeks as IV infusion over 4 h18–20 | IV | 1b |
| 4 | Cysteamine bitartrate (Cystagon) | Cystinosis | 50 mg and 150 mg capsules | Begin with 10 mg/kg/day and increase weekly until the maintenance dose (60–90 mg of free base/kg/day) or (1.3–1.95 g/m2 per day) is reached The recommended adult dose is 500 mg free base q6h; however, for both children and adults, the dose is titrated to reduce, if possible, leukocyte cystine concentration (measured 5–6 h after a dose) to below 1 nmol half-cystine/mg protein21–23 |
PO | 4 |
| 5 | Cysteamine hydrochloride (Cystoran) | Cystinosis | Ophthalmic drops | 0.55% solution with benzalkonium chloride 0.01% as a preservative: 10–12 times/day in each eye24 25 | Eyes | 1b |
| 6 | Galsulfase (Neglazyme) | Mucopolysaccharidosis VI | 5 mg/ml solution for injection | 1 mg/kg/week†26–28 | IV | 1b |
| 7 | Idursulfase (Elaprase) | Hunter syndrome (mucopolysaccharidosis II) | IV solution must be diluted in 100 ml of 0.9 sodium chloride injection, each vial contains 2 mg/ml solution of idursulfase protein (6 mg) in an extractable volume of 3 ml and for single use only | 0.5 mg/kg weekly over 1–3 h29–31 | IV | 1b |
| 8 | Imiglucerase (Cerezyme) | GD | 200 U and 400 U powder for reconstitution | Various regimens for non-neuropathic Gaucher disease, chronic, symptomatic: Adults: Usual dosage, 60 U/kg IV over 1–2 h every 2 weeks; may range from 2.5 U/kg 3 times weekly to 60 U/kg once every 2 weeks Children(a) Safety and effectiveness have not been established in children younger than 2 years of age (b) 2 years and older: usual dosage, 60 U/kg IV over 1–2 h every 2 weeks; may range from 2.5 U/kg 3 times weekly to 60 U/kg once every 2 weeks‡32 33 The absence of an improvement in visceral, haematological and biochemical markers within 6 months may indicate that a higher dose is required. If bone crises continue, the dose should be increased by at least 50%32 33 For type III GD, some clinicians recommend a higher dosage: 120 U/kg/2 weeks5 |
IV infusion over 1–2 h | 1b |
| 9 | Laronidase (Aldurazyme) | Mucopolysaccharidosis type 1 | 2.9 mg/5 ml solution for injection | 100 U/kg/week34 | IV | 1b |
| 10 | Miglustat (Zavesca) | GD in patients unable to receive intravenous ERT, NPC | 100 mg capsule | GD: 100 mg/kg/day TID35–38 NPC: 200 mg/kg/day TID39 40 |
PO | 4 |
| 11 | Velaglucerase α | GD | Powder for solution for injection, 200 U/vial and 400 U/vial | 60 U/kg administered every other week over 1 h§ Adjust based on disease activity |
IV | 1b |
†Product information for Naglazyme.
‡Product information: Cerezyme injection, imiglucerase injection.
§Product information for velaglucerase α. *Available under different brand names; sometimes in various dosage forms and strengths (only a few examples are given).
ERT, enzyme replacement therapy; GD, Gaucher disease; IV, intravenous; NPC, Niemann-Pick disease type C; PO, per os (by mouth); q6h, every 6 h; TID, three times a day.