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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01948427
Recruitment Status : Active, not recruiting
First Posted : September 23, 2013
Last Update Posted : May 15, 2019
Information provided by (Responsible Party):
Horizon Pharma Ireland, Ltd., Dublin Ireland

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.

Condition or disease
Urea Cycle Disorder

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.

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Study Type : Observational [Patient Registry]
Actual Enrollment : 209 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Long-Term Registry of Patients With Urea Cycle Disorders (UCDs)
Actual Study Start Date : September 2013
Estimated Primary Completion Date : September 2026
Estimated Study Completion Date : September 2026

Primary Outcome Measures :
  1. Assessment of UCD specific disease characteristics [ Time Frame: Patients will be followed for the duration of the registry. The expected duration is 10 years. ]
    Assessment of: Blood chemistry, neurocognitive outcomes, growth and development and medications related to the management of UCD.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with a confirmed or suspected diagnosis of UCD

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01948427

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United States, Pennsylvania
United BioSource Corporation
Blue Bell, Pennsylvania, United States, 19422
Sponsors and Collaborators
Horizon Pharma Ireland, Ltd., Dublin Ireland
Additional Information:
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Responsible Party: Horizon Pharma Ireland, Ltd., Dublin Ireland Identifier: NCT01948427    
Other Study ID Numbers: HPN-100-014
First Posted: September 23, 2013    Key Record Dates
Last Update Posted: May 15, 2019
Last Verified: May 2019
Keywords provided by Horizon Pharma Ireland, Ltd., Dublin Ireland:
Urea cycle disorder
Glycerol phenylbutyrate
Sodium phenylbutyrate
Ornithine transcarbamylase (OTC)
Argininosuccinate synthetase (ASS)
Argininosuccinate lyase (ASL)
Carbamyl phosphate synthetase (CPS)
Additional relevant MeSH terms:
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Urea Cycle Disorders, Inborn
Pathologic Processes
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases