Patient characteristics
| . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . |
|---|---|---|---|---|
| Sex | Male | Male | Female | Female |
| Age (y) at diagnosis | 30 | 17 | 17 | 37 |
| Age (y) at HCT | 30 | 18 | 18 | 37 |
| ARSA activity, E514nm/ 10−6 leukocytes | 0.04 | 0.06 | 0 | 0.03 |
| Blood type | Ad | AD | AD | 0D |
| ARSA variants (NM_000487.6) | c.465+1G>A, p? and c.542T>G, p.IIe181Ser | c.465+1>G>A, p? and c.542T>G, p.Ile181Ser | c.1283C>T, p.Pro428Leu homozygous | c.979G>A, p.Gly325Ser homozygous |
| EMG before HCT | Demyelinating polyneuropathy | Demyelinating polyneuropathy | Demyelinating polyneuropathy | Demyelinating polyneuropathy |
| MRI before HCT | White matter lesions | White matter lesions | White matter lesions | White matter lesions |
| SARA at diagnosis (1-y follow-up) | 2.5 (2.5) | - | - | 1.1 (1.0) |
| MoCA at diagnosis (1-y follow-up) | 24 (23) | 21 (19) | 28 (pending) | 30 MMS (-) |
| Karnofsky Index at diagnosis (1-y follow-up) | 70 (90) | 100 (90) | 100 (100) | 100 (-) |
| Initial symptoms | Behavioral change and memory loss | Behavioral change, memory loss, and ataxia | Asymptomatic | Behavioral change, memory loss, and ataxia |
| Related donor | No | No | Yes | No |
| Graft type | Peripheral blood | Bone marrow | Bone marrow | Peripheral blood |
| HLA typing | Identical (MUD 10 of 10) | Identical (MUD 12 of 12) | Identical (MSD 12 of 12) | Identical (MUD 10 of 10) |
| Conditioning regime | Fludarabin/treosulfan | Fludarabin/treosulfan | Fludarabin/treosulfan | Fludarabin/treosulfan |
| Composition CD34+ cells per kg | 7.82 × 106 | 2.2 × 106 | 5.16 × 106 | 3.82 × 108 |
| MSCs | No | Yes | Yes | Yes |
| DLI | No | Yes | No | No |
| Reg. thrombocytes (d) | 14 | 21 | 15 | 14 |
| Reg. ANC (d) | 17 | 21 | 20 | 16 |
| Adverse events | Allergic reaction on CsA, hyperkalemia, and loss of appetite | Hepatitis and loss of appetite | Diarrhea and exanthema | None |
| . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . |
|---|---|---|---|---|
| Sex | Male | Male | Female | Female |
| Age (y) at diagnosis | 30 | 17 | 17 | 37 |
| Age (y) at HCT | 30 | 18 | 18 | 37 |
| ARSA activity, E514nm/ 10−6 leukocytes | 0.04 | 0.06 | 0 | 0.03 |
| Blood type | Ad | AD | AD | 0D |
| ARSA variants (NM_000487.6) | c.465+1G>A, p? and c.542T>G, p.IIe181Ser | c.465+1>G>A, p? and c.542T>G, p.Ile181Ser | c.1283C>T, p.Pro428Leu homozygous | c.979G>A, p.Gly325Ser homozygous |
| EMG before HCT | Demyelinating polyneuropathy | Demyelinating polyneuropathy | Demyelinating polyneuropathy | Demyelinating polyneuropathy |
| MRI before HCT | White matter lesions | White matter lesions | White matter lesions | White matter lesions |
| SARA at diagnosis (1-y follow-up) | 2.5 (2.5) | - | - | 1.1 (1.0) |
| MoCA at diagnosis (1-y follow-up) | 24 (23) | 21 (19) | 28 (pending) | 30 MMS (-) |
| Karnofsky Index at diagnosis (1-y follow-up) | 70 (90) | 100 (90) | 100 (100) | 100 (-) |
| Initial symptoms | Behavioral change and memory loss | Behavioral change, memory loss, and ataxia | Asymptomatic | Behavioral change, memory loss, and ataxia |
| Related donor | No | No | Yes | No |
| Graft type | Peripheral blood | Bone marrow | Bone marrow | Peripheral blood |
| HLA typing | Identical (MUD 10 of 10) | Identical (MUD 12 of 12) | Identical (MSD 12 of 12) | Identical (MUD 10 of 10) |
| Conditioning regime | Fludarabin/treosulfan | Fludarabin/treosulfan | Fludarabin/treosulfan | Fludarabin/treosulfan |
| Composition CD34+ cells per kg | 7.82 × 106 | 2.2 × 106 | 5.16 × 106 | 3.82 × 108 |
| MSCs | No | Yes | Yes | Yes |
| DLI | No | Yes | No | No |
| Reg. thrombocytes (d) | 14 | 21 | 15 | 14 |
| Reg. ANC (d) | 17 | 21 | 20 | 16 |
| Adverse events | Allergic reaction on CsA, hyperkalemia, and loss of appetite | Hepatitis and loss of appetite | Diarrhea and exanthema | None |
ANC, absolute neutrophile count; CsA, cyclosporine A; DLI, donor lymphocyte infusion; EMG, electromyography; MUD, matched unrelated donor; Reg., regeneration.