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

Brief Title

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

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

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.
    

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.
    


Study Type

Observational


Primary Outcome

Rate over time of ureagenesis for 4 hours based on presence of [1-13C] in urea


Condition

Ornithine Transcarbamylase Deficiency

Intervention

No Intervention

Study Arms / Comparison Groups

 Adult Patients with OTC Deficiency
Description:  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.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

1

Start Date

October 6, 2020

Completion Date

May 30, 2023

Primary Completion Date

May 30, 2023

Eligibility Criteria

        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
      

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Medical Director, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT04717453

Organization ID

DTX301-CL102


Responsible Party

Sponsor

Study Sponsor

Ultragenyx Pharmaceutical Inc


Study Sponsor

Medical Director, Study Director, Ultragenyx Pharmaceuticals


Verification Date

December 2021