. Author manuscript; available in PMC: 2013 Aug 15.

Published in final edited form as: Genet Med. 2012 Oct 11;15(2):123–131. doi: 10.1038/gim.2012.110

Table 2.

Clinical and laboratory parameters over time for the three patients treated with bortezomib-based regimen (patient 1)

Patient 1
	Baseline	Initial improvement phase	Period of rising anti-rhGAA IgG titers	Immunomodulation attempt with cyclophosphamide and rituximab	Immunomodulation with bortezomib-based regimen
	Prior to ERT	Week 1 → week 38 of ERT	Week 38 → week 86 of ERT	Week 86 → week 98 of ERT	Week 98 of ERT onward
Anti-rhGAA IgG titers	Seronegative	1:25,600 → 1:102,400	1:102,400 → 1:204,800	1:204,800	1:204,800 → 1:100
Cardiac status (LVMI (g/m²))^a	278.6	135	138.0 → 228.6	228.6 → 360.3 (With significant LVOTO; peak velocity 5.3 m/s)	360.3 → 72.0 (With no evidence of LVOTO)
Urinary Glc₄ (mmol/mol creatinine)	39.9^b	NA	130.4^c (Week 64)	153.3^c (Week 92)	83.4^d (Week 159)
Gross motor status	Generalized hypotonia	Sat unsupported; rolled over; raised arms against gravity; bore weight on lower extremities	Regression of motor milestones; myopathic facies	Voluntary motor activity limited to ocular movements only	Reacquisition of previously lost motor milestones; regained ability to move fingers and toes, bend knees and nod head; recovery of muscles of facial expression and improvement in speech function
Respiratory status	No respiratory support	No respiratory support	Full-time ventilator dependent (PC/PEEP of 18/6 cm H₂O, breathing rate: 6/min) (week 55 onward)	Increase in ventilation requirement (PC/PEEP of 15/6 cm H₂O, breathing rate increased to 30/min)	Decrease in ventilation requirement (PC/PEEP of 15/5 cm H₂O, breathing rate 10/min); ability to come off ventilator frequently for short periods (~8–10 min) (week 159)
Feeding status	Oral	Oral	Gastrostomy tube (week 55 onward)	Gastrostomy tube	Gastrostomy tube

Baseline: before initiation of ERT.

ERT, enzyme replacement therapy; GAA, glucosidase α; LVMI, left-ventricular mass index; LVOTO, left-ventricular outflow tract obstruction; NA, not available; PC/PEEP, pressure control/positive end-expiratory pressure; urinary Glc₄, urinary glucose tetrasaccharide.

Upper limit of normal LVMI: 65 g/m² (>2 SD higher than upper limit of the age-appropriate normal mean).

Control value for ages 1 to 6 months: 20 mmol/mol of creatinine (95th percentile).

Control value for ages 1 to 3 years: 8 mmol/mol of creatinine.

Control range for ages >3 years: 3 mmol/mol of creatinine.