Comparison of key outcome parameters between the HLH94 and HLH-2004 study cohorts and the current cohort
| . | HLH9411,12 . | HLH-200410 . | Current study (active disease) . | Current study (asymptomatic) . |
|---|---|---|---|---|
| pHLH definition | Affected sibling | Genetics (94%) affected sibling (6%) | Genetics (96%) function (4%) | Genetics 100% |
| Patient number | 60 | 168 FHL and 29 non-FHL (15%) | 56 FHL and 20 non-FHL (26%) | 7 FHL and 5 non-FHL (42%) |
| Median age at onset | 2 mo | 3.4 mo | 5.6 mo | na |
| Treatment (first-line) | HLH94 | HLH-2004 | No major drug 10 (13%) Etoposide 57 (75%) Alemtuzumab 7 (9%) Emapalumab 2 (3%) | 4 Cyclosporin A/IVIG 8 none |
| Median time diagnosis to SCT | 183 d | 148 d | 88 d | 246 d (birth to SCT) |
| Survival before SCT | 44 of 60 (73%) | 140 of 168 (83%) | 69 of 76 (91%) etoposide 52/ of (91%) | 12 of 12 (100%) |
| Survival after SCT | 29 of 44 (66%) | 94 of 135 (70%) | 56 of 65 (86%) etoposide 44 of 52 (85%) | 10 of 10 (100%)∗ |
| OS (CI) | 50% (±13%) (5y) | 59% (52%-67%) (5y) | 79% (68%-86%) (3y) etoposide 77% (64%-86%) | 100% (3y) |
| . | HLH9411,12 . | HLH-200410 . | Current study (active disease) . | Current study (asymptomatic) . |
|---|---|---|---|---|
| pHLH definition | Affected sibling | Genetics (94%) affected sibling (6%) | Genetics (96%) function (4%) | Genetics 100% |
| Patient number | 60 | 168 FHL and 29 non-FHL (15%) | 56 FHL and 20 non-FHL (26%) | 7 FHL and 5 non-FHL (42%) |
| Median age at onset | 2 mo | 3.4 mo | 5.6 mo | na |
| Treatment (first-line) | HLH94 | HLH-2004 | No major drug 10 (13%) Etoposide 57 (75%) Alemtuzumab 7 (9%) Emapalumab 2 (3%) | 4 Cyclosporin A/IVIG 8 none |
| Median time diagnosis to SCT | 183 d | 148 d | 88 d | 246 d (birth to SCT) |
| Survival before SCT | 44 of 60 (73%) | 140 of 168 (83%) | 69 of 76 (91%) etoposide 52/ of (91%) | 12 of 12 (100%) |
| Survival after SCT | 29 of 44 (66%) | 94 of 135 (70%) | 56 of 65 (86%) etoposide 44 of 52 (85%) | 10 of 10 (100%)∗ |
| OS (CI) | 50% (±13%) (5y) | 59% (52%-67%) (5y) | 79% (68%-86%) (3y) etoposide 77% (64%-86%) | 100% (3y) |
IVIG, IV immunoglobulin.
6 of 12 siblings who were asymptomatic underwent transplantation within the first year of life. Another 4 underwent transplantation after age 1 year; 1 patient with XLP2 and 1 with GS-2 did not undergo transplantation within the follow-up period.