Chronic Liver Disease in Urea Cycle Disorders

NCT03721367 | Completed Results DMC

• 2 other identifiers: H-40988UCDC 5118
• Study Type: observational
• Target: 28
• Locations: 1 country
• Sites: 1

Brief Summary

This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders. This study will be conducted at 3 UCDC sites: Baylor College of Medicine in Houston, Texas, University of California San Francisco (UCSF), San Francisco, California and Seattle Children's Hospital, Seattle,Washington

Conditions

Urea Cycle Disorder

Outcome Measures

Primary Outcomes (2)

• Liver Stiffness as Measured by Shear Wave Elastography

  Shear wave elastography in m/s is a measure of liver stiffness, a surrogate measure for hepatic fibrosis. Normal liverstiffness is \< 1.35 m/s and abnormal liver stiffness is \>1.35 m/s

  One measurement made on the day of study visit

• Grey Scale Ultrasound Findings

  Grey scale ultrasound findings

  Baseline, once

Secondary Outcomes (1)

• Fibrotest

  Baseline, once

Study Arms (1)

Urea Cycle Disorders

Other: Diagnostic Ultrasound

Interventions

Diagnostic Ultrasound OTHER

All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography.

Urea Cycle Disorders

Eligibility Criteria

• Age: 5 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with urea cycle disorders

You may qualify if:

• Age \> 5 years and \< 60 years
• Weight ≥ 11 kg
• Males or females with a diagnosis of OTCD based on molecular or enzymatic testing. Males or females with a diagnosis of CPS1D, citrin deficiency, NAGSD, ASS1D, ASLD or ARG1D based on biochemical OR molecular, OR enzymatic testing

You may not qualify if:

• History of hyperammonemia (blood ammonia greater than 100 micromoles/L) documented in the medical record or reported by the patient in the 30 days preceding enrollment visit
• History of Liver transplantation
• Current pregnancy
• Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, or alcohol liver disease

Sponsors & Collaborators

• Baylor College of Medicine: lead
• Seattle Children's Hospital: collaborator
• University of California, San Francisco: collaborator

Study Sites (1)

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Related Publications (2)

• Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC. Biomarkers for liver disease in urea cycle disorders. Mol Genet Metab. 2021 Jun;133(2):148-156. doi: 10.1016/j.ymgme.2021.04.001. Epub 2021 Apr 8.

  PMID: 33846069 DERIVED

• Burrage LC, Madan S, Li X, Ali S, Mohammad M, Stroup BM, Jiang MM, Cela R, Bertin T, Jin Z, Dai J, Guffey D, Finegold M; Members of the Urea Cycle Disorders Consortium (UCDC); Nagamani S, Minard CG, Marini J, Masand P, Schady D, Shneider BL, Leung DH, Bali D, Lee B. Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency. JCI Insight. 2020 Feb 27;5(4):e132342. doi: 10.1172/jci.insight.132342.

  PMID: 31990680 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood

MeSH Terms

Conditions

Urea Cycle Disorders, Inborn

Interventions

High-Energy Shock Waves

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

Intervention Hierarchy (Ancestors)

Ultrasonic Waves; Sound; Radiation, Nonionizing; Radiation; Physical Phenomena

Results Point of Contact

• Title: Dr. Lindsay Burrage
• Organization: Baylor College of Medicine

burrage@bcm.edu

832-822-4280

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: June 20, 2018
• First Posted: October 26, 2018
• Study Start: November 29, 2017
• Primary Completion: June 1, 2020
• Study Completion: June 1, 2020
• Last Updated: February 10, 2023
• Results First Posted: February 10, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)