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PCORI Urea Cycle Disorder Study

NCT02740153 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 187

Last updated 2021-01-26

Study results available
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Summary

Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain. UCD cause brain damage and intellectual and developmental disabilities and even death.

Treatment for UCD is either conservative management which involves a low-in-protein diet, drugs, and amino acid supplements or liver transplantation; each carries their own risks.

This study aims to help patients to make the decision about different management alternatives by providing them with scientific information that is currently lacking.

Aim 1 of this study will compare survival, neurocognitive function, and patient-reported quality of life.

Conditions

  • Urea Cycle Disorders

Interventions

OTHER

No Intervention Given

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    collaborator NIH

  • National Center for Advancing Translational Sciences (NCATS)

    collaborator NIH

  • Patient-Centered Outcomes Research Institute

    collaborator OTHER

  • George Washington University

    collaborator OTHER

  • The National Urea Cycle Disorders Foundation

    collaborator UNKNOWN

  • Studies of Pediatric Liver Transplantation

    collaborator UNKNOWN

  • Children's National Research Institute

    lead OTHER

Principal Investigators

  • Mendel Tuchman, MD · Children's National Research Institute

  • Nicholas Ah Mew, MD · Children's National Research Institute

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-03-04
Primary Completion
2019-06-10
Completion
2020-06-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02740153 on ClinicalTrials.gov