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Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency

Phase 3
Active, not recruiting
Conditions
OTC Deficiency
Interventions
Genetic: DTX301
Other: Placebo
Drug: Oral Corticosteroids
Drug: Placebo for oral corticosteroids
Registration Number
NCT05345171
Lead Sponsor
Ultragenyx Pharmaceutical Inc
Brief Summary

The primary objective is to evaluate the efficacy of DTX301 on the improvement of ornithine transcarbamylase (OTC) function by maintaining safe plasma ammonia levels.

Detailed Description

This study is a Phase 3, randomized, double-blind, placebo-controlled study of DTX301 in patients with late-onset OTC deficiency 12 years of age and older.

Participants will be randomized 1:1 to DTX301 or placebo and followed closely for 36-64 weeks. Between Week 36 and Week 64, eligible participants will cross over and receive DTX301 if they had previously received placebo, and some who received DTX301 may receive placebo.

The planned study duration is up to 324 weeks. Upon completion of this study or early withdrawal, all participants who received DTX301 are invited to enroll in the Disease Monitoring Program (DMP) for follow-up for up to an additional 5 years.

Recruitment & Eligibility

Status
ACTIVE_NOT_RECRUITING
Sex
All
Target Recruitment
32
Inclusion Criteria
  • Confirmed clinical diagnosis of late-onset OTC deficiency with historical documentation by enzymatic (ie, liver biopsy), biochemical (ie, hyperammonemia in the presence of elevated plasma glutamine, low citrulline, and elevated spot urine orotic acid), or molecular testing (ie, OTC analysis)
  • Free from symptomatic hyperammonemia and has not required emergent active intervention for hyperammonemia within 4 weeks before screening/baseline
  • If on ongoing daily ammonia scavenger therapy, must be at stable daily dose(s) for ≥ 4 weeks prior to screening
  • If on a protein-restricted diet, must be on a stable total daily protein intake that does not vary more than 20% for ≥ 4 weeks prior to screening
  • From the time written informed consent through Visit 28, females of childbearing potential and fertile males must consent to use highly effective contraception. If female, agree not to become pregnant. If male, agree not father a child or donate sperm

Key

Exclusion Criteria
  • Significant hepatic inflammation or cirrhosis
  • Estimated glomerular filtration rate < 60 mL/min/1.73 m2 at screening by the 2021 CKD-EPI creatinine-based formula (Inker et al., 2021) for patients ≥ 18 years of age or the Schwartz bedside formula (Schwartz and Work, 2009) for patients < 18 years of age
  • Evidence of active hepatitis B virus (HBV) or hepatitis C virus (HCV) infection, documented by current use of antiviral therapy for HBV or HCV or by hepatitis B surface antigen (HBsAg) or HCV RNA positivity
  • Active infection (viral or bacterial)
  • Detectable pre-existing antibodies to the AAV8 capsid
  • Presence or history of any condition that, in the view of the Investigator, would interfere with participation, pose undue risk, or would confound interpretation of results
  • Participation (current or previous) in another gene transfer study

Note: Additional inclusion/exclusion criteria may apply, per protocol

Study & Design

Study Type
INTERVENTIONAL
Study Design
CROSSOVER
Arm && Interventions
GroupInterventionDescription
Placebo, Then DTX301Placebo for oral corticosteroidsParticipants receive single peripheral IV infusion of placebo. Between Week 36 and Week 64, participants receive single peripheral IV infusion of DTX301 in solution.
Placebo, Then DTX301Sodium AcetateParticipants receive single peripheral IV infusion of placebo. Between Week 36 and Week 64, participants receive single peripheral IV infusion of DTX301 in solution.
DTX301DTX301Participants receive single peripheral intravenous (IV) infusion of DTX301 in solution. Between Week 36 and Week 64, participants may receive single peripheral IV infusion of placebo.
DTX301Oral CorticosteroidsParticipants receive single peripheral intravenous (IV) infusion of DTX301 in solution. Between Week 36 and Week 64, participants may receive single peripheral IV infusion of placebo.
DTX301PlaceboParticipants receive single peripheral intravenous (IV) infusion of DTX301 in solution. Between Week 36 and Week 64, participants may receive single peripheral IV infusion of placebo.
Placebo, Then DTX301PlaceboParticipants receive single peripheral IV infusion of placebo. Between Week 36 and Week 64, participants receive single peripheral IV infusion of DTX301 in solution.
Placebo, Then DTX301Oral CorticosteroidsParticipants receive single peripheral IV infusion of placebo. Between Week 36 and Week 64, participants receive single peripheral IV infusion of DTX301 in solution.
DTX301Placebo for oral corticosteroidsParticipants receive single peripheral intravenous (IV) infusion of DTX301 in solution. Between Week 36 and Week 64, participants may receive single peripheral IV infusion of placebo.
DTX301Sodium AcetateParticipants receive single peripheral intravenous (IV) infusion of DTX301 in solution. Between Week 36 and Week 64, participants may receive single peripheral IV infusion of placebo.
Placebo, Then DTX301DTX301Participants receive single peripheral IV infusion of placebo. Between Week 36 and Week 64, participants receive single peripheral IV infusion of DTX301 in solution.
Primary Outcome Measures
NameTimeMethod
Complete Responder Rate at the Final Study Visit After DTX301 ExposureUp to 64 Weeks Post DTX301 Infusion
Plasma Ammonia as Measured by 24-Hour Ammonia (AUC0-24)Week 36
Secondary Outcome Measures
NameTimeMethod
Long-Term Durability of ResponseUp to 64 Weeks Post DTX301 Infusion

Based Upon Number of Complete Responders or Responders That Have ≥ 2 Consecutive Visits as a Complete Responder or Responder and Do Not Return to a Lower Responder Status for \> 1 Consecutive Visit

Change in Plasma Ammonia (AUC0-24) for Participants Who Have an Elevated Ammonia AUC0-24 at BaselineBaseline, Up to 64 Weeks Post DTX301 Infusion
Percentage of Complete Responders or Responders After DTX301 ExposureUp to 64 Weeks Post DTX301 Infusion
Change in Plasma Ammonia (AUC0-24) After DTX301 ExposureUp to 64 Weeks Post DTX301 Infusion
Change in Baseline Disease Management (Dietary Protein and Total Scavenger Medication Use) With Plasma Ammonia (AUC0-24)Up to 64 Weeks Post DTX301 Infusion
Number of Participants With Anti-OTC AntibodiesUp to Week 324
Annualized Event Rate of Hyperammonemic Crises (HACs) Pre-DTX301 Exposure vs Post-DTX301 ExposurePre-enrollment, Baseline, Up to 64 Weeks Post DTX301 Infusion
Annualized Event Rate of Interim Clinical Events (ICEs) Pre-DTX301 Exposure vs Post-DTX301 ExposurePre-enrollment, Baseline, Up to 64 Weeks Post DTX301 Infusion
Change from Baseline in Plasma Ammonia (AUC0-24)Baseline, Up to Week 36
Percentage of Participants Who Have Achieved Complete Management Response (CMR) or Management Response (MR) After DTX301 ExposureUp to 64 Weeks Post DTX301 Infusion
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, Related TEAEs, Related Serious TEAEs and Adverse Events of Special Interest (AESIs)Up to Week 324

Trial Locations

Locations (17)

University of California

🇺🇸

Los Angeles, California, United States

University of Colorado

🇺🇸

Aurora, Colorado, United States

Ann & Robert H. Lurie Children's Hospital of Chicago

🇺🇸

Chicago, Illinois, United States

University Hospitals Cleveland Medical Center

🇺🇸

Cleveland, Ohio, United States

Hospital Italiano de Buenos Aires

🇦🇷

Buenos Aires, Argentina

Clinica Universitaria Reina Fabiola

🇦🇷

Córdoba, Argentina

Hospital de Clinicas de Porto Alegre

🇧🇷

Porto Alegre, Brazil

The Hospital for Sick Children

🇨🇦

Toronto, Ontario, Canada

Hopital Femme Mere Enfant

🇫🇷

Bron, France

Necker-Enfants Maladas Hospital

🇫🇷

Paris, France

Scroll for more (7 remaining)
University of California
🇺🇸Los Angeles, California, United States

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