Table 5 Mortality over time and overall survival in untreated children with MLD

Fumagalli et al. 2021 [49]

Italy

Median OS (time from symptom onset)

• Overall (n = 22): 8.42^a

• Ambulant (n = 13): 9.17

• Non-ambulant (n = 9): 8.42 (P = 0.9424 vs. ambulant)

• Median OS (from birth):

• Ambulant (n = 13): 10.17

 • Non-ambulant (n = 9): 9.42 (P = 0.5768 vs. ambulant)

• 5 years from symptom onset: 56%

 • 10 years from symptom onset: 40%

Median OS (time from symptom onset)

• Early-juvenile (n = 14): not reached

 • Early-juvenile subgroup with motor symptoms at onset (n = 9): not reached

• Early-juvenile subgroup with only cognitive symptoms at onset (n = 5): not reached

• Late-juvenile (n = 5): not reached

Early-juvenile (n = 14)

• 5 years: 90%

•10 years: 80%

•15 years: 68.6%

 Early-juvenile subgroup with motor symptoms at onset (n = 9)

•15 years: 68.6%

Early-juvenile subgroup with only cognitive symptoms at onset (n = 5)

• 15 years: 66.7%

Late-juvenile (n = 5)

• 5 years: 100%

• 10 years: 100%

•15 years: 100%

Groeschel et al. 2016 [52]

Germany

N/A

N/A

Untreated

  •Median age at follow-up: 15.8 years (range: 3.9–47.1 years)

Untreated

•  5 years from disease onset:^b 100% (41/41)

• 5 years from baseline evaluation:^b 73% (30/41)

Liaw et al. 2015 [61]

Taiwan

Of 5 patients in total, 3 patients had follow-up data: 2 died at 7.34 years old and 4.75 years old (both from respiratory failure) and 1 was alive at 8 years of age

NR

N/A

N/A

Mahmood et al. 2010 [63]

USA

NR

5 years from onset of symptoms: 25.1%

10 years from onset of symptoms: 0%^c

NR

5 years from onset of symptoms: 70.3%

10 years from onset of symptoms: 44.3%^c

van Rappard et al. 2016 [101]

Netherlands

8 untreated patients (36%) died 22–72 months after diagnosis^d

At latest assessment

Untreated (n = 22): 63.6% at ~ 70 months^e since diagnosis^f