Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)

Terminated

Conditions: Urea Cycle Disorder

Registration Number: NCT01948427

Lead Sponsor: Amgen

Brief Summary: THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years. As an observational study, enrolled patients will not be required to make any additional office visits or take any medicine outside of normal care.

Detailed Description: UCDs disproportionately affect children and females: depending on the severity of the defect, a UCD can manifest shortly after birth or later in life. This study will track long-term outcomes in UCD patients and effects of ammonia-scavenging agents on neuropsychological functions of UCD patients.

This is a non-interventional, multi-center registry to be conducted in patients with UCDs. Investigators will prescribe treatments based on usual clinical practice, and there will be no restrictions on the use of commercially available medications. As an observational study, this study will not change the patient/ healthcare provider relationship, nor influence the healthcare provider's drug prescription or the therapeutic management of the patient.

Patients with UCDs will be recruited and invited to attend a Baseline visit. After eligible patients are enrolled, retrospective and baseline data will be collected. Patients will be followed for up to 10 years, during which time they will be assessed by their healthcare provider. Patients and healthcare provider will be asked to report episodes of hyperammonemic crisis, available ammonia values, and other information.

Study acquired from Horizon in 2024.

Recruitment & Eligibility

Status: TERMINATED

Sex: All

Target Recruitment: 203

Inclusion Criteria

Confirmed or suspected diagnosis of UCD
Signed informed consent/Health Insurance Portability and Accountability Act (HIPAA) Authorization and medical records release

Exclusion Criteria

Any other reason that, in the Investigator's opinion, makes the patient unsuitable to participate in this study.

Study & Design

Study Type: OBSERVATIONAL

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Median Blood Ammonia Levels Over Time, by Last-Known Ammonia-Scavenging Medication	12 months prior to enrollment (retrospective), Baseline, Day 7 to 30, Month 6, Month 12, Month 18, Month 24, Month 30, Month 36, Month 42, Month 48, Month 54, Month 60, Month 66, Month 72	Retrospective is defined as the 12 months preceding enrollment.
Mean Blood Ammonia Levels Over Time, by Last Known Ammonia-Scavenging Medication	12 months prior to enrollment (retrospective), Baseline, Day 7 to 30, Month 6, Month 12, Month 18, Month 24, Month 30, Month 36, Month 42, Month 48, Month 54, Month 60, Month 66, Month 72	Retrospective is defined as the 12 months preceding enrollment.
Percentage of Participants With Hyperammonemic Crisis (HAC) by Baseline Ammonia-Scavenging Medication, Retrospective Values	12 months prior to enrollment (retrospective)	Percentage of participants experiencing HAC (reported for the 12 months preceding enrollment).
Percentage of Participants With Hyperammonemic Crisis (HAC), Post-Baseline by Last Known Ammonia-Scavenging Medication	From enrollment through the end of study (mean overall duration on study was 1187.7 days).	Percentage of participants experiencing HAC (post-Baseline).
Number of Participants With Serious Adverse Events (SAEs)	From enrollment through the end of study (mean overall duration on study was 1187.7 days).	An SAE is an adverse event that: is fatal or life-threatening; results in persistent or significant disability or incapacity. Disability is defined as a substantial disruption of a person's ability to conduct normal life functions; requires inpatient hospitalization or prolongation of an existing hospitalization; is a congenital anomaly/birth defect; any other important medical event that may jeopardize the patient and may require medical or surgical intervention to prevent one of the outcomes listed above.