Table 3 Liver disease and need for liver transplantation in early and late nitisinone-treated TYR1 patients
Study | Study design | Participants | Outcome | Age at last follow-up / study end date | |
|---|---|---|---|---|---|
Birmingham study | |||||
Bartlett 2014 [17] | Cohort (prospective data collection) | N=38 No NTBC: n=7 NTBC: n=31 Age at presentation: <2 months: n=11 2-6 months: n=11 >6 months: n=9 | OLT | ||
<2 months: | 0/11 | NR | |||
2-6 months: | 3/11 (27%) | NR | |||
>6 months: | 4/9 (44%) | NR | |||
No NTBC: | 6/7 (86%) | NR | |||
(p=0.004 vs 7/31 with NTBC) | |||||
Median age at NTBC start No OLT: 52 (range 2-990) days; OLT: 428 (range 86-821) days. (p=0.004) | |||||
McKiernan 2015 [14] | Cohort (sibling-controlled, retrospective data collection) | N=17 Pre-clinically diagnosed: n=12 Clinically diagnosed siblings: n=5 | OLT | ||
Pre-clinically: | 0/12 | 3-12.5 years; | |||
Clinically: | 1/5 (20%) | 10-19 years or death at 1.5 and 7 months, respectively | |||
Liver disease | |||||
Pre-clinically | 0/12 | 3-12.5 years; | |||
Clinically | 2/3 (67%) surviving patients | 10-19 years | |||
Québec study | |||||
Larochelle 2012 [10] | Cohort (Before 1994 retrospective, thereafter prospective data collection) | N=78 NTBC introduced ≤30 days: n=24 >30 days: n=26 No NTBC: n=28 | UI | ||
≤30 days: | 0/24 | 5-11 years; | |||
>30 days: | 7/26 (27%) | 9-19 years or OLT/death at 2-8 years; | |||
No NTBC: | 20/28 (71%) | OLT/death at 0.5-10 years | |||
p < 0.001, ≤30 days vs No NTBC (Chi square test); p < 0.001, >30 days vs No NTBC (Chi square test); p = 0.010, ≤30 vs >30 days (Fisher exact test)a | |||||
Simoncelli 2015 [11] | Cohort (Retrospective data collection) | N=95 <4 weeks: n=41 ≥4 weeks: n=26 No NTBC: n=28 Supersedes Larochelle et al. [10] | OLT | ||
<4 weeks: | 0/41 | IQR 3.4-8.5 years | |||
≥4 weeks: | 7/26 (27%) | IQR 12.6-15.0 years | |||
No NTBC: | 20/28 (71%) | IQR 16.3-21.7 years | |||
(p<0.001, Fisher exact test) | (p<0.001, Kruskal-Wallis test) | ||||
International cohort | |||||
Mayorandan 2014 [18] | International cohort (retrospective data collection via questionnaire) | N=168 included in study. N=148 NTBC-treated patients included in analysis. NTBC start: <1 month: n=37 1-6 months: n=45 7-12 months: n=20 >12 months: n=46 | OLT | OR (95%CI) | |
>12 months: | 12.7 (1.5-103)b | NR | |||
Acute liver disease | |||||
<1 month: | 0/37 | NR | |||
7-12 months: | 3/20 (15%)* | NR | |||
Liver cancer | OR (95%CI) | ||||
>12 months: | 12.7 (1.5-103)b | NR | |||
Liver cirrhosis | OR (95%CI) | ||||
7-12 months: | 41.6 (2.2-779.9)b | NR | |||
>12 months: | 40.5 (2.3-704.1)b | NR | |||
Hepatomegaly | OR (95%CI) | ||||
1-6 months: | 3.3 (0.9-11.3)b | NR | |||
7-12 months: | 4.4 (1.1-17.7)b | NR | |||
>12 months: | 3.9 (1.1-13.3)b | NR | |||
Odds/rates for not presented late-treated groups were not significantly different compared to early NTBC (<1 month). | |||||