Ornithine Transcarbamylase DeficiencyNCT04717453
Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency
An observational study of Ornithine Transcarbamylase Deficiency, run by Ultragenyx Pharmaceutical Inc at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Ornithine Transcarbamylase Deficiency
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 6 Oct 2020to 15 Dec 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
PPD Phase 1 Clinic - Orlando
Orlando, Florida, 32806
About this study
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
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.
Read the 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.
- Conditions
- Ornithine Transcarbamylase Deficiency
- Being tested
- No Intervention
- Keywords
- OTC, OTC Deficiency, Neonatal, Late Onset, Asymptomatic Carrier
- Medical subject headings
- Ornithine Carbamoyltransferase Deficiency Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
No Intervention
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rate over time of ureagenesis for 4 hours based on presence of [1-13C] in urea
Urea excretion after ingestion of sodium acetate as measured in blood
Measured: Predose (0hour) up to 4 hours post dose at Baseline, Weeks 24, 48, 72, and 96
OTC Genotype
Genotype in blood
Measured: Up to 96 weeks
Rate of Hyperammonemic Crisis (HAC)
Measured: Up to 96 weeks
Cognitive assessment
Cogstate platform
Measured: Up to 96 weeks
Hyperammonemia Indicator Questionnaire (HI-Q)
Patient-reported outcome (PRO) for symptoms of hyperammonemia
Measured: Up to 96 weeks
OTC Deficiency Impact Questionnaire (OTC-D-IQ)
PRO for impact of hyperammonemia
Measured: Up to 96 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jan 2021
- Study start6 Oct 2020
- Primary completion15 Dec 2021
- Study completion15 Dec 2021
Why it stopped: Sponsor's Decision
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ornithine Transcarbamylase DeficiencyStudies of the same condition, open and under way.
- More trials run by Ultragenyx Pharmaceutical IncThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Ultragenyx Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04717453
- Sponsor's protocol ID
- DTX301-CL102
- Status last verified
- Feb 2022
- First submitted
- 15 Jan 2021
- Last updated
- 18 Feb 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Feb 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04717453
- Acronym / sponsor ID
- DTX301-CL102
- Conditions
- Ornithine Transcarbamylase Deficiency
- Keywords
- OTC, OTC Deficiency, Neonatal, Late Onset, Asymptomatic Carrier
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Sponsor's Decision
- Enrolment
- 1 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 6 Oct 2020 (actual)
- Primary completion
- 15 Dec 2021 (actual)
- Study completion
- 15 Dec 2021 (actual)
- First posted
- 22 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adult Patients with OTC Deficiency | – | Other: No InterventionEligible 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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 (7 listed)
- 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)
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No InterventionNo Intervention | Other | Adult Patients with OTC Deficiency |
Primary outcome
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
OTC Genotype
Time frame: Up to 96 weeks
Genotype in blood
Rate of Hyperammonemic Crisis (HAC)
Time frame: Up to 96 weeks
Cognitive assessment
Time frame: Up to 96 weeks
Cogstate platform
Hyperammonemia Indicator Questionnaire (HI-Q)
Time frame: Up to 96 weeks
Patient-reported outcome (PRO) for symptoms of hyperammonemia
OTC Deficiency Impact Questionnaire (OTC-D-IQ)
Time frame: Up to 96 weeks
PRO for impact of hyperammonemia
Results and safety
The study was stopped early (reason given: Sponsor's Decision). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Feb 2022.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director study director
Ultragenyx Pharmaceuticals
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ornithine Transcarbamylase Deficiency, run by Ultragenyx Pharmaceutical Inc at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 18 Feb 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Sponsor's Decision). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Feb 2022.