Table 2.
CCALD natural history, symptomatology and survival
| Characteristics | No HSCT (N = 29) | HSCT (N = 18) | Total (N = 47) | |
|---|---|---|---|---|
| Diagnoses | ||||
| Age at ALD diagnosis (y) |
Median (Q1-Q3) |
7.0 (6.0–10.0) | 6.0 (5.0–8.0) | 7.0 (5.0–9.0) |
| Age at CCALD diagnosis (y) | 7.0 (6.0–10.0) | 7.0 (6.0–9.0) | 7.0 (6.0–10.0) | |
| Time between diagnoses (months) | 0.0 (0.0–0.0) | 1.3 (0.0–16.1) | 0.0 (0.0–0.0) | |
| Symptoms | ||||
| Patients with CCALD symptoms | N (%) | 27 (93.1) | 11 (61.1) | 38 (80.9) |
| Patients with HSCT-preventable symptoms | 27 (93.1) | 3 (16.7) | 30 (63.8) | |
| Patients without symptoms | 2 (6.9) | 7 (38.9) | 9 (19.1) | |
| Age at 1st CCALD symptom (y) |
Median (Q1-Q3) |
7.0 (6.0–9.0) | 7.0 (6.0–9.0) | 7.0 (6.0–9.0) |
| CCALD main symptoms | ||||
| Cognitive symptoms | N (%) | 15 (51.7) | 1 (5.6) | 16 (34.0) |
| Motor symptoms | 8 (27.6) | 0 (0.0) | 8 (17.0) | |
| Adrenal insufficiency | 0 (0.0) | 9 (50.0) | 9 (19.1) | |
| Seizures | 1 (3.4) | 0 (0.0) | 1 (2.1) | |
| Other symptoms | 5 (17.2) | 2 (11.1) | 7 (14.9) | |
| Major Functional Disabilities (MFD) | ||||
| Patients with MFD | N (%) | 18 (62.1) | 3 (16.7) | 21 (44.7) |
| Patients without MFD | 11 (31.9) | 15 (83.3) | 26 (55.3) | |
| Age at 1st MFD |
Median (Q1-Q3) |
7.0 (6.0–12.0) | 10.0 (10.0–21.0) | 8.0 (6.0–12.0) |
| Main MFDs | ||||
| Communication loss | N (%) | 16 (80.0) | 0 (0.0) | 16 (42.1) |
| Use of wheelchair | 14 (48.3) | 0 (0.0) | 14 (29.8) | |
| Incontinence | 7 (24.1) | 0 (0.0) | 7 (14.9) | |
| Blindness | 10 (34.5) | 3 (16.7) | 13 (27.7) | |
| Enteral feeding | 11 (37.9) | 0 (0.0) | 11 (23.4) | |
| Movement loss | 9 (31.0) | 0 (0.0) | 9 (19.1) | |
| MFD-free survival* | ||||
| Median MFD-free survival (months) |
Median (Q1-Q3) |
20.0 (3.3–84.0) |
NE (NE – NE) |
41.9 (20.0 – NE) |
| % at 12 months after diagnosis |
% [CI95%] |
51.1 [31.8 ; 67.5] |
94.4 [66.6;99.2] |
67.9 [52.5;79.3] |
| % at 60 months after diagnosis |
31.9 [14.6;50.6] |
72.2 [45.6;87.4] |
48.4 [33.0;62.2] |
|
| Overall survival* | ||||
| Median age at death (y)** |
Median (Q1-Q3) |
10.0 (8.0–16.0) | 9.0 (9.0–9.0) | 10.0 (8.0–16.0) |
| 5-year overall survival |
% [CI95%] |
66.6 [41.0;83.2] |
94.4 [66.6;99.2] |
80.0 [63.8;89.5] |
| End of study overall survival |
30.5 [6.2;60.3] |
94.4 [66.6;99.2] |
65.5 [44.2;80.3] |
|
* Survivals were assessed based on Kaplan-Meier estimates
**Only one patient with HSCT died
ALD: adrenoleukodystrophy; CCALD: childhood cerebral ALD; HSCT: allogenic stem cell transplantation; MFD: major functional disabilities
CCALD symptoms gather: cognitive symptoms, adrenal insufficiency, motor symptoms, convulsions and other symptoms
MFD gathers: loss of communication, wheelchair, incontinence, blindness, enteral feeding (nasogastric/gastrostomy) and loss of movement
HSCT only refers to allogenic transplantations