Table 1.
Baseline characteristics of X-ALD variants and healthy controls.
| Childhood/adolescent | X-ALD CCALD | X-ALD Asympt | Control | Validation setc |
|---|---|---|---|---|
| Participants, n | 41a | 20 | 17 | 25 |
| Samples, n | 45 | 40 | 17 | 25 |
| Plasma, n | 36 | 40 | 10 | 25 |
| Serum, n | 9 | – | 7 | – |
| Age, years | 9 (7–12) | 9 (6–12) | 12 (10–14) | 6 (5–8) |
| MRI severity Loes score | 8.5 (2.8–11) | – | N.A. | 3.5 (1.1–11.4) |
| Adult | X-ALD ACALD | X-ALD AMN | Control |
|---|---|---|---|
| Participants, n | 22b | 58 | 49 |
| Samples, n | 25 | 84 | 49 |
| Plasma, n | 15 | 66 | 26 |
| Serum, n | 10 | 18 | 23 |
| Age, years | 37 (28–51) | 39 (29–45) | 39 (31–52) |
| MRI severity Loes score | 8.5 (3.8–10) | – | N.A. |
Continuous variables are median (IQR). CCALD (cerebral ALD), childhood/adolescent onset (age ≤21 years).
a
This group includes two patients from the asymptomatic X-ALD group who converted to CCALD during the study; ACALD, adult onset (age >21 years).
b
This group includes five patients from the AMN set who converted to CALD during the study. Asympt. X-ALD (asymptomatic X-ALD), non-inflammatory childhood/adolescent X-ALD patients before signs of AMN. AMN (adrenomyeloneuropathy), non-inflammatory adult X-ALD patients with myelopathy.
c
Validation set, independent cohort of phenotype-blinded childhood X-ALD patients.