Table 2 CCALD natural history, symptomatology and survival

 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]