Patient summaries
| Patient number . | Clinical study . | Age at GT, y . | Sex . | ADA mutation . | Baseline height, cm (centile) . | Baseline weight, kg (centile) . | Race . | Previous treatment (duration) . | Dose, CD34+ cells × 106/kg . | VCN, copies/ cell . | Duration of follow up, y* . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Pilot 1 | 0.6 | F | H17P (homozygous) | NR | 6.5 (fifth) | White/Arabic | None | 8.5 | 2.28 | 13.4 |
| 2 | Pilot 2 | 2.4, 5.0† | F | L107P, R211H | 88 (25th) | 11.5 (25th) | White | Haplo-SCT | 0.9 | NR | 13.1‡ |
| 2.1 | 2.15 | ||||||||||
| 3 | Pilot 2 | 1.0 | M | G74V, R282Q | NR | 8.8 (15th) | White | Haplo-SCT | 6.7 | 0.85 | 11.9 |
| 4 | Pivotal | 1.9 | F | R282Q (homozygous) | 72 (less than first)§ | 7.8 (less than first)§ | White/Arabic | Haplo-SCT; PEG-ADA (2 mo) | 3.8 | NR | 11.6 |
| 5 | Pivotal | 1.6 | F | G216R, E319fsX3 | 71 (less than first) | 10.0 (25th) | White | PEG-ADA (15 mo) | 9.6 | 1.89 | 9.9 |
| 6 | Pivotal | 5.6 | M | R211H (homozygous) | 104 (less than third) | 14.5 (less than third) | White | PEG-ADA (65 mo) | 9.5 | 1.05 | 9.0 |
| 7 | Pivotal | 1.5 | M | G216R, S291L | 76 (first) | 9.0 (third) | White | PEG-ADA (13 mo) | 9.0 | 0.83 | 7.0‡ |
| 8 | Pivotal | 2.8 | F | H15D (homozygous) | 79 (less than first) | 7.4 (less than first) | White | PEG-ADA (32 mo) | 10.6 | 0.12 | 2.3ঠ|
| 9 | Pivotal | 1.4 | M | Exon 5 splice-donor site +2 | 76 (5th) | 9.8 (25th) | White | PEG-ADA (10 mo) | 13.6 | 0.57 | 7.0 |
| 10 | Pivotal | 1.8 | F | G216R (homozygous) | 81 (15th) | 10.2 (25th) | White/Arabic | Haplo-SCT; PEG-ADA (11 mo) | 10.7 | 0.35 | 6.9 |
| 11 | Pivotal | 1.6 | M | R211H (homozygous) | 76 (less than first) | 8.1 (less than first) | White | PEG-ADA (8 mo) | 6.34 | 0.17 | 7.0 |
| 12 | Pivotal | 1.3 | M | G216R, E319fsX3 | 82 (85th) | 12.6 (95th) | White | PEG-ADA (12 mo) | 11.5 | 0.14 | 6.2 |
| 13 | Pivotal | 0.5 | M | Exon 6, splice donor site +5 | 60 (less than first) § | 5.9 (less than first) | Asian | PEG-ADA (1 mo) | 18.2 | 0.06 | 6.2 |
| 14 | Pivotal | 6.1 | M | G216R, exon 10, deletion +6 | 114 (15th) | 21.8 (50th) | White | PEG-ADA (71 mo) | 6.0 | 0.54 | 5.1‡ |
| 15 | Pivotal | 2.5 | F | R156C (homozygous) | 82 (less than first) | 11.5 (15th) | White/Arabic | PEG-ADA (12 mo) | 5.9 | 0.38 | 5.0 |
| 16 | CUP | 2.3 | M | c.7C→T (p.Q3X) | 97 (97th)§ | 16.0 (97th)§ | African | PEG-ADA (23 mo) | 6.9 | 0.17 | 3.2 |
| 17 | CUP | 0.7 | M | c.881C→A (p.T294K) | 69 (15th)§ | 7.9 (15th)§ | African | PEG-ADA (7 mo) | 13.0 | 0.24 | 3.7‡# |
| 18 | CUP | 2.1 | M | c.956_960delAAGAG (p.Glu319Glyfsx3) | 88 (50th)§ | 12.0 (25th)§ | White/Arabic | PEG-ADA (24 mo) | 9.9 | 0.11 | 2.6‡ |
| Patient number . | Clinical study . | Age at GT, y . | Sex . | ADA mutation . | Baseline height, cm (centile) . | Baseline weight, kg (centile) . | Race . | Previous treatment (duration) . | Dose, CD34+ cells × 106/kg . | VCN, copies/ cell . | Duration of follow up, y* . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Pilot 1 | 0.6 | F | H17P (homozygous) | NR | 6.5 (fifth) | White/Arabic | None | 8.5 | 2.28 | 13.4 |
| 2 | Pilot 2 | 2.4, 5.0† | F | L107P, R211H | 88 (25th) | 11.5 (25th) | White | Haplo-SCT | 0.9 | NR | 13.1‡ |
| 2.1 | 2.15 | ||||||||||
| 3 | Pilot 2 | 1.0 | M | G74V, R282Q | NR | 8.8 (15th) | White | Haplo-SCT | 6.7 | 0.85 | 11.9 |
| 4 | Pivotal | 1.9 | F | R282Q (homozygous) | 72 (less than first)§ | 7.8 (less than first)§ | White/Arabic | Haplo-SCT; PEG-ADA (2 mo) | 3.8 | NR | 11.6 |
| 5 | Pivotal | 1.6 | F | G216R, E319fsX3 | 71 (less than first) | 10.0 (25th) | White | PEG-ADA (15 mo) | 9.6 | 1.89 | 9.9 |
| 6 | Pivotal | 5.6 | M | R211H (homozygous) | 104 (less than third) | 14.5 (less than third) | White | PEG-ADA (65 mo) | 9.5 | 1.05 | 9.0 |
| 7 | Pivotal | 1.5 | M | G216R, S291L | 76 (first) | 9.0 (third) | White | PEG-ADA (13 mo) | 9.0 | 0.83 | 7.0‡ |
| 8 | Pivotal | 2.8 | F | H15D (homozygous) | 79 (less than first) | 7.4 (less than first) | White | PEG-ADA (32 mo) | 10.6 | 0.12 | 2.3ঠ|
| 9 | Pivotal | 1.4 | M | Exon 5 splice-donor site +2 | 76 (5th) | 9.8 (25th) | White | PEG-ADA (10 mo) | 13.6 | 0.57 | 7.0 |
| 10 | Pivotal | 1.8 | F | G216R (homozygous) | 81 (15th) | 10.2 (25th) | White/Arabic | Haplo-SCT; PEG-ADA (11 mo) | 10.7 | 0.35 | 6.9 |
| 11 | Pivotal | 1.6 | M | R211H (homozygous) | 76 (less than first) | 8.1 (less than first) | White | PEG-ADA (8 mo) | 6.34 | 0.17 | 7.0 |
| 12 | Pivotal | 1.3 | M | G216R, E319fsX3 | 82 (85th) | 12.6 (95th) | White | PEG-ADA (12 mo) | 11.5 | 0.14 | 6.2 |
| 13 | Pivotal | 0.5 | M | Exon 6, splice donor site +5 | 60 (less than first) § | 5.9 (less than first) | Asian | PEG-ADA (1 mo) | 18.2 | 0.06 | 6.2 |
| 14 | Pivotal | 6.1 | M | G216R, exon 10, deletion +6 | 114 (15th) | 21.8 (50th) | White | PEG-ADA (71 mo) | 6.0 | 0.54 | 5.1‡ |
| 15 | Pivotal | 2.5 | F | R156C (homozygous) | 82 (less than first) | 11.5 (15th) | White/Arabic | PEG-ADA (12 mo) | 5.9 | 0.38 | 5.0 |
| 16 | CUP | 2.3 | M | c.7C→T (p.Q3X) | 97 (97th)§ | 16.0 (97th)§ | African | PEG-ADA (23 mo) | 6.9 | 0.17 | 3.2 |
| 17 | CUP | 0.7 | M | c.881C→A (p.T294K) | 69 (15th)§ | 7.9 (15th)§ | African | PEG-ADA (7 mo) | 13.0 | 0.24 | 3.7‡# |
| 18 | CUP | 2.1 | M | c.956_960delAAGAG (p.Glu319Glyfsx3) | 88 (50th)§ | 12.0 (25th)§ | White/Arabic | PEG-ADA (24 mo) | 9.9 | 0.11 | 2.6‡ |
Baseline and initial follow-up data for patients 1 to 10 have been previously described.17 Date of data cutoff was 8 May 2014.
F, female; haplo-SCT, haplo-identical stem cell transplant; M, male; NR, not recorded; VCN, vector copy number.
Duration of follow-up was calculated from date of last assessment relative to the date of GT.
Second dose of GT did not include busulfan preconditioning.
Patient remained on IVIG supplementation at data cut off.
Screening/prebaseline values are shown where baseline values are unavailable.
Patient withdrew from study (reason: investigator discretion) when she became a candidate for an allogeneic sibling donor stem cell transplant.
Patient withdrew from study (reason: unsuccessful response to GT) when he became a candidate for an allogeneic sibling donor stem cell transplant.