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Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04717453
Recruitment Status : Recruiting
First Posted : January 22, 2021
Last Update Posted : July 16, 2021
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

Brief Summary:
The objectives of the study are to characterize urea production rates in patients with OTC, characterize the association of rate of ureagenesis and disease severity in OTC patients, characterize the association of rate of ureagenesis and executive and verbal function and characterize the association of rate of ureagenesis and patient-reported functional status.

Condition or disease Intervention/treatment
Ornithine Transcarbamylase Deficiency Other: No Intervention

Detailed Description:
Study DTX301-CL102 is a noninterventional, observational study to characterize the rate of ureagenesis and to assess neurocognition and functional status in the spectrum of OTC deficiency and their association with biochemical characteristics. [1-13C]Sodium acetate will be administered orally as a tracer to measure the rate of ureagenesis.

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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Study to Characterize Rate of Ureagenesis Utilizing Oral [1-13C] Sodium Acetate in the Spectrum of Severity of Patients With Ornithine Transcarbamylase (OTC) Deficiency
Actual Study Start Date : October 6, 2020
Estimated Primary Completion Date : May 30, 2023
Estimated Study Completion Date : May 30, 2023

Group/Cohort Intervention/treatment
Adult Patients with OTC Deficiency
Eligible subjects will be asked to participate in 5 clinic visits, each lasting up to 3 days. Each visit will assess rate of ureagenesis during the 4 hours following ingestion of [1-13C]sodium acetate. Sodium acetate is used as a tracer to measure the rate of ureagenesis. Patient interview, reported outcomes and cognitive assessments will take place over the 3 days.
Other: No Intervention
No Intervention

Primary Outcome Measures :
  1. Rate over time of ureagenesis for 4 hours based on presence of [1-13C] in urea [ Time Frame: Predose (0hour) up to 4 hours post dose at Baseline, Weeks 24, 48, 72, and 96 ]
    Urea excretion after ingestion of sodium acetate as measured in blood

  2. OTC Genotype [ Time Frame: Up to 96 weeks ]
    Genotype in blood

  3. Rate of Hyperammonemic Crisis (HAC) [ Time Frame: Up to 96 weeks ]
  4. Cognitive assessment [ Time Frame: Up to 96 weeks ]
    Cogstate platform

  5. Hyperammonemia Indicator Questionnaire (HI-Q) [ Time Frame: Up to 96 weeks ]
    Patient-reported outcome (PRO) for symptoms of hyperammonemia

  6. OTC Deficiency Impact Questionnaire (OTC-D-IQ) [ Time Frame: Up to 96 weeks ]
    PRO for impact of hyperammonemia

Biospecimen Retention:   Samples With DNA
DNA for OTC genotype

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Approximately 30 patients will be enrolled, with up to 6 (20%) asymptomatic patients and at least 18 (60%) patients with late-onset OTC deficiency.

Key Inclusion Criteria:

  • Willing and able to provide written informed consent.
  • For symptomatic patients:
  • Confirmed clinical diagnosis of OTC deficiency and enzymatic, biochemical, or molecular testing.
  • Documented history of ≥ 1 symptomatic hyperammonemic episode with ammonia level ≥ 100 μmol/L
  • Patients on ongoing daily ammonia scavenger therapy must be at a stable dose(s) for ≥ 4 weeks prior to Visit 1 (Baseline)
  • For asymptomatic patients: confirmed diagnosis of OTC deficiency by family history and documented by molecular testing.
  • Willing and able to comply with the study procedures and requirements, including clinic visits, blood and urine collections, questionnaires, and cognitive assessments.

Key Exclusion Criteria:

  • Liver transplant, including hepatocyte cell therapy/transplant.
  • History of liver disease
  • Significant hepatic inflammation or cirrhosis
  • Participation in another investigational medicine study within 3 months of Screening
  • Participation (current or previous) in another gene transfer study
  • Pregnant or nursing

Other protocol specific criteria may apply

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04717453

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Contact: Patients Contact: Trial Recruitment 1-415-483-8800
Contact: HCPs Contact: Medical Information 1-888-756-8657

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United States, District of Columbia
Emerson Clinical Research Institute LLC Recruiting
Washington, District of Columbia, United States, 20011
United States, Florida
PPD Phase 1 Clinic - Orlando Recruiting
Orlando, Florida, United States, 32806
United States, Massachusetts
Boston Clinical Trials Inc Recruiting
Boston, Massachusetts, United States, 02131
United States, Michigan
Quest Research Institute Recruiting
Farmington Hills, Michigan, United States, 48334
United States, Nevada
PPD Las Vegas Recruiting
Las Vegas, Nevada, United States, 89113
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
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Study Director: Medical Director Ultragenyx Pharmaceuticals
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Responsible Party: Ultragenyx Pharmaceutical Inc Identifier: NCT04717453    
Other Study ID Numbers: DTX301-CL102
First Posted: January 22, 2021    Key Record Dates
Last Update Posted: July 16, 2021
Last Verified: July 2021

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Ultragenyx Pharmaceutical Inc:
OTC Deficiency
Late Onset
Asymptomatic Carrier
Additional relevant MeSH terms:
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Ornithine Carbamoyltransferase Deficiency Disease
Urea Cycle Disorders, Inborn
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases