Clinical trial NCT02311283: Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Official title: Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Urea Cycle Disorders
Lead sponsor: University of South Florida
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
First posted: 2014-12-08
Enrollment: 87
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

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.

Detailed description: Participants enrolled in the RDCRN UCDC Contact Registry will receive an email inviting them to participate in the study. Interested participants will be directed to the informed consent document. After agreeing to participate, participants will be directed to the study web portal. The study web portal will be developed and maintained by the Data Management and Coordinating Center at the University of South Florida (USF).

Participants will complete several questionnaires about their urea cycle disorder including diagnosis and treatment information and quality of life.

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* 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

Primary outcomes:
measure: Test the feasibility of collecting survey data from the UCDC Contact Registry
timeFrame: Up to one year from study activation.
measure: Assess patient reported outcomes on urea cycle relevant dimensions (applied cognition & subjective well-being).
timeFrame: Up to one year from study activation.
measure: Validate data on treatment setting (team and organization) and management (diet, pharmacologic management, transplantation)
timeFrame: Up to one year from study activation.
Secondary outcomes:
Other outcomes:
Locations:
city: Tampa
country: United States
facility: University of South Florida
state: Florida
Study officials:
affiliation: University of South Florida
name: Jeffrey Krischer, PhD
role: STUDY_CHAIR
affiliation: Children's National Research Institute
name: Jennifer Seminara, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Boston Children's Hospital
name: Vera Anastasoaie, MD
role: PRINCIPAL_INVESTIGATOR
References: