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Urea Cycle Disorder Study

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Longitudinal Study of Urea Cycle Disorders

  • Sex: Any
  • Age: Child (Birth - 17), Adult (18 - 64), Older Adult (65+)
  • Accepting Healthy People: No
  • Type: Others
  • Trial Phase: NA
  • Conditions Being Studied: Urea Cycle Disorders

Study Purpose

This study is a multi-site, long-term observational study of patients with urea cycle disorders. Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.

Principal Investigator
Laura Konczal MD
Department/Division
Genetics (General)

Locations

UH Cleveland Medical Center
11100 Euclid Ave
Cleveland OH, 44106

  • UH IRB: SITE00000204
  • StudyID: 2020-0247
  • ClinicalTrials.gov: NCT00237315
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