Trial Outcomes & Findings for PCORI Urea Cycle Disorder Study (NCT NCT02740153)
NCT ID: NCT02740153
Last Updated: 2021-01-26
Results Overview
This aspect of Aim 1 is prospective by design based on selection by exposure (liver transplant or medical managed) evaluating the clinical outcomes of subjects with urea cycle disorders.
COMPLETED
187 participants
436 person years in the Liver Transplant Group and 386 person-years in the Without Transplant Group
2021-01-26
Participant Flow
Patients were recruited from the Urea Cycle Disorder Consortium registry study and were recruited from UCDC member hospitals. Recruitment began in April 2016 and ended in April 2019.
No pre-assignment details, this was not an intervention study.
Participant milestones
| Measure |
Urea Cycle Disorder With Liver Transplant
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
History of liver transplant.
No intervention given.
|
Urea Cycle Disorder Without Transplant
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No history of liver transplant, managed conservatively with medication and diet.
No intervention given.
|
|---|---|---|
|
Overall Study
STARTED
|
101
|
86
|
|
Overall Study
COMPLETED
|
101
|
86
|
|
Overall Study
NOT COMPLETED
|
0
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
Baseline characteristics by cohort
| Measure |
Urea Cycle Disorder With Liver Transplant
n=101 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
History of liver transplant
|
Urea Cycle Disorder Without Transplant
n=86 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
No history of liver transplant
|
Total
n=187 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Customized
<6 Months
|
20 Participants
n=93 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
28 Participants
n=4 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
48 Participants
n=27 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
|
Age, Customized
6-12 Months
|
29 Participants
n=93 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
10 Participants
n=4 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
39 Participants
n=27 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
|
Age, Customized
1-5 Years
|
38 Participants
n=93 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
35 Participants
n=4 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
73 Participants
n=27 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
|
Age, Customized
5-10 Years
|
10 Participants
n=93 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
10 Participants
n=4 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
20 Participants
n=27 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
|
Age, Customized
>10 Years
|
4 Participants
n=93 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
3 Participants
n=4 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
7 Participants
n=27 Participants • Number analyzed in rows is the same as overall for comparison of Aim 1 arms (liver transplant versus medical management)
|
|
Sex: Female, Male
Female
|
34 Participants
n=93 Participants
|
33 Participants
n=4 Participants
|
67 Participants
n=27 Participants
|
|
Sex: Female, Male
Male
|
67 Participants
n=93 Participants
|
53 Participants
n=4 Participants
|
120 Participants
n=27 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
17 Participants
n=93 Participants
|
11 Participants
n=4 Participants
|
28 Participants
n=27 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
77 Participants
n=93 Participants
|
62 Participants
n=4 Participants
|
139 Participants
n=27 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
7 Participants
n=93 Participants
|
13 Participants
n=4 Participants
|
20 Participants
n=27 Participants
|
PRIMARY outcome
Timeframe: 436 person years in the Liver Transplant Group and 386 person-years in the Without Transplant GroupPopulation: Treatment-related effects on mortality
This aspect of Aim 1 is prospective by design based on selection by exposure (liver transplant or medical managed) evaluating the clinical outcomes of subjects with urea cycle disorders.
Outcome measures
| Measure |
Urea Cycle Disorder With Liver Transplant
n=101 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
History of liver transplant
|
Urea Cycle Disorder Without Transplant
n=86 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
No history of liver transplant, UCD managed conservatively through medical management
|
|---|---|---|
|
Mortality
|
18.4 participant per 1000 person-years
Interval 9.2 to 36.7
|
20.7 participant per 1000 person-years
Interval 10.4 to 41.4
|
PRIMARY outcome
Timeframe: Neuropsychological testing was conducted once for each patient at baseline during the study on age-matched norms for the specific test used.Population: * Full Scale IQ * WPPSI - Children 3-5 years of age * WASI - Persons 6+ years of age
Neuropsychological tests were based on age-matched norms for the specific test used. All neurocognitive scores have been standardized to the following: norm, mean of 100, and sd of 15. In all tests higher scores are interpreted as higher functions. The WPPSI and WASI were combined to create a single measure of Full-Scale IQ. Full-Scale IQ * Wechsler Preschool and Primary Scales of Intelligence, 4th edition (WPPSI-IV: Children 3-5 years of age) * Wechsler Abbreviated Scales of Intelligence, 1st and 2nd editions (WASI-I \& II: Persons 6+ years of age)
Outcome measures
| Measure |
Urea Cycle Disorder With Liver Transplant
n=15 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
History of liver transplant
|
Urea Cycle Disorder Without Transplant
n=25 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
No history of liver transplant, UCD managed conservatively through medical management
|
|---|---|---|
|
Neurocognitive Function: Full-Scale IQ
|
80.1 score on a scale
Interval 67.5 to 92.7
|
82 score on a scale
Interval 73.5 to 90.6
|
PRIMARY outcome
Timeframe: Quality of life testing was conducted and reported at baseline for each patient during the study.Population: Patient/family reported quality of life using PedsQL quality of life measuremet tool (version 4)
Quality of life assessments are self-reported by participating patients or by their parent/caretaker using the following reports: Pediatric Family Impact (PedsQL), Version 4 is reported as a total score All were scored on a 0-100 scale. Higher scores indicated a better health-related quality of life
Outcome measures
| Measure |
Urea Cycle Disorder With Liver Transplant
n=23 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
History of liver transplant
|
Urea Cycle Disorder Without Transplant
n=16 Participants
* Age 18 and under
* Diagnosed with the following Neonatal-type urea cycle disorders: CPSD, OTCD, ASD or ALD, as defined as follows:
No Intervention Given
No history of liver transplant, UCD managed conservatively through medical management
|
|---|---|---|
|
Total Quality of Life
|
69.8 score on a scale of 0-100
Interval 60.9 to 78.7
|
55.6 score on a scale of 0-100
Interval 44.7 to 66.5
|
Adverse Events
Urea Cycle Disorder With Liver Transplant
Urea Cycle Disorder Without Transplant
Serious adverse events
Adverse event data not reported
Other adverse events
Adverse event data not reported
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee
- Publication restrictions are in place