Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

NCT02311283 | Completed

• 1 other identifier: UCDC5112
• Study Type: observational
• Target: 87
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to determine if patients participating in "The Longitudinal Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders Consortium (UCDC) Rare Diseases Clinical Research Network (RDCRN) Contact Registry and to determine if patients are a good source of medical information.

Conditions

Urea Cycle Disorders

Outcome Measures

Primary Outcomes (3)

• Test the feasibility of collecting survey data from the UCDC Contact Registry

  Patient-reported survey data will be reviewed for accuracy and feasibility as a reliable data source.

  Up to one year from study activation.

• Assess patient reported outcomes on urea cycle relevant dimensions (applied cognition & subjective well-being).

  The PROMIS website will be used to assess the accuracy and completeness of patient reported outcomes on urea cycle relevant dimensions.

  Up to one year from study activation.

• Validate data on treatment setting (team and organization) and management (diet, pharmacologic management, transplantation)

  Patient-reported survey data will be linked with research data collected in clinic for the same patients to validate patient-reported data on treatment setting and disease management.

  Up to one year from study activation.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with urea cycle disorders will be recruited via the RDCRN UCDC Contact Registry. The UCDC contact registry consists of over 300 participants with urea cycle disorders.

You may qualify if:

• Enrollment in UCDC RDCRN Contact Registry
• Patient reported diagnosis of one of the eight UCDs or UCD diagnosis highly likely/pending.

You may not qualify if:

• Cases of hyperammonemia caused by an organic acidemia, lysinuric protein intolerance, mitochondrial disorders, congenital lactic acidemia, fatty acid oxidation defects and primary liver disease.
• Individuals with rare and unrelated serious comorbidities, e.g., Down syndrome, intraventricular hemorrhage in the newborn period, and extreme low birth weight (\<1,500 grams).
• Inability to provide informed consent and complete surveys

Sponsors & Collaborators

• University of South Florida: lead
• National Institutes of Health (NIH): collaborator

Study Sites (1)

University of South Florida

Tampa, Florida, 33612, United States

Location

Related Links

• Rare Diseases Clinical Research Network UCDC webpage

MeSH Terms

Conditions

Urea Cycle Disorders, Inborn

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Jeffrey Krischer, PhD

  University of South Florida

  STUDY CHAIR

• Jennifer Seminara, MD

  Children's National Research Institute

  PRINCIPAL INVESTIGATOR

• Vera Anastasoaie, MD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Year
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 12, 2014
• First Posted: December 8, 2014
• Study Start: October 1, 2014
• Primary Completion: October 1, 2015
• Study Completion: July 1, 2016
• Last Updated: March 7, 2018

Record last verified: 2016-09

Locations

US (1)