Ornithine Transcarbamylase DeficiencyNCT06805695
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
An observational study of Ornithine Transcarbamylase Deficiency and Ornithine Transcarbamylase Deficiency Disease, run by iECURE, Inc. at 3 sites in 2 countries.
Trial summary
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also participated in a parent protocol. Read more about this study
- Who is it for?
- Ages 7 to 15 months
- Conditions the study is for
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- How many people
- 13 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 23 Dec 2024to Jul 2041
- Phase
- Observational
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 7 to 15 months
- All sexes
- No healthy volunteers
- Child
Study population: All participants from an iECURE parent treatment protocol, whether they received IP or not, will be consented to enter this LTFU study. Enrollment into the LTFU will begin upon either premature discontinuation from, or completion of, the parent treatment protocol.
Who may be able to join
- Enrolled in an iECURE parent protocol and have either completed or discontinued that protocol
- Participant parent(s)/LAR is willing and able to adhere to the protocol requirements.
- Consent was obtained by the participants parent(s)/LAR (and participant assent, where applicable), prior to any study-related data being collected.
Who cannot join
- 1. Participants who enroll into an interventional drug or gene therapy clinical trial utilizing an IP other than the IP provided in the parent protocol will be excluded from this protocol.
Trial locations and contacts
3 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
3 sites in 2 countries
United States2 sites, 2 recruiting
- Recruiting
Children's Hospital of Colorado, Anshutz Medical Campus
Aurora, Colorado, 80045
Lanie Dougherty, Lanie.Dougherty@childrenscolorado.org
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Silvia Gunderson, silvia.gunderson@mssm.edu
United Kingdom1 site, 1 recruiting
- Recruiting
Great Ormond Street Hospital
London
Christopher Jackson, christopher.jackson@gosh.nhs.uk
About this study
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also participated in a parent protocol.
Read the detailed description
This is a 14.5 year LTFU protocol to assess long term safety and clinical response to IP as well as to capture natural disease history of participants not dosed with IP in a parent protocol. No IP is provided as part of this protocol. Participants will remain on standard of care medication as indicated and prescribed by their physicians.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- Being tested
- No Intervention
- Keywords
- Amino Acid Metabolism, Inborn Errors, Ammonia, Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Central Nervous System Diseases, Genetic Diseases, Inborn, Genetic Diseases, X-Linked, High Ammonia, Hyperammonemia, Inborn, Inborn Errors, Liver Disease, Liver Transplant, Metabolism, Metabolic Diseases, Metabolism, Inborn Errors, Neonatal, Nervous System Diseases, NH4
- Medical subject headings
- Ornithine Carbamoyltransferase Deficiency Disease, Urea Cycle Disorders, Inborn, Amino Acid Metabolism, Inborn Errors, Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Central Nervous System Diseases, Genetic Diseases, Inborn
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 |
|---|---|---|
| Enrolled and Dosed | Previously dosed in a previous iECURE study. Receives: Other: No Intervention | |
| Enrolled but Not Dosed | Enrolled in a previous iECURE study, but not dosed. Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
AE and SAE (incidence, severity, seriousness, and relatedness)
Safety
Measured: Over 14.5 years post dosing with ECUR-506
Change from baseline over 14.5 years post infusion in length
Length measured in cenitmeters
Measured: Over 14.5 years post dosing with ECUR-506
Change from baseline over 14.5 years post infusion in weight
Weight measured in kilograms
Measured: Over 14.5 years post dosing with ECUR-506
Urinalysis (Dip Stick) Evaluations
Urinalysis (Dip Stick) will be evaluated to monitor pathological changes to the participants urine and to monitor levels of Specific Gravity, pH, Glucose, Protein, Blood, Ketones, Bilirubin, Urobilinogen, Nitrite, Leukocyte esterase, red blood cell count, and white blood cell count as they relate to established local lab normal ranges.
Measured: Over 14.5 years post dosing with ECUR-506
Secondary outcomes (18)
qPCR measurement to evaluate the clearance of both vectors in blood over time.
Pharmacokinetics
Measured: Over 14.5 years post dosing with ECUR-506
qPCR measurement to evaluate the clearance of both vectors in saliva over time.
Pharmacokinetics
Measured: Over 14.5 years post dosing with ECUR-506
qPCR measurement to evaluate the clearance of both vectors in urine over time.
Pharmacokinetics
Measured: Over 14.5 years post dosing with ECUR-506
qPCR measurement to evaluate the clearance of both vectors in feces over time.
Pharmacokinetics
Measured: Over 14.5 years post dosing with ECUR-506
Percent Liver Transduction
Pharmacokinetics
Measured: Over 14.5 years post dosing with ECUR-506
Number of hyperammonemic crises (HAC)
Pharmacodynamics and Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Among participants who experience HAC with associated neurological status change and are hospitalized: Asses daily ammonia levels for duration of hospitalization for each event
Pharmacodynamics and Safety
Measured: Over 14.5 years post dosing with ECUR-506
Among participants who experience HAC with associated neurological status change and are hospitalized: Assess duration of hospitalization for each event.
Pharmacodynamics and Safety
Measured: Over 14.5 years post dosing with ECUR-506
Among participants who experience HAC with associated neurological status change and are hospitalized: Assess requirement for ICU care.
Pharmacodynamics and Safety
Measured: Over 14.5 years post dosing with ECUR-506
Number of HAC with the following severities: a. Mild: adjustment of dietary protein intake and oral scavenger medication b. Moderate: cessation of dietary protein intake and initiation of IV scavenger therapy c. Severe: requirement for hemodialysis
Pharmacodynamics and Safety
Measured: Over 14.5 years post dosing with ECUR-506
Scavenger drug dose per body surface area (BSA)
Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Protein allowance g/kg
Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Concentration of blood urea nitrogen measurements
Pharmacodynamics
Measured: Over 14.5 years post dosing with ECUR-506
Time to liver transplant from Day 1 (Parent Protocol) for participants who are dosed and Day -1 (Parent Protocol) for participants who are not dosed to end of study EOS (LTFU Protocol)
Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Transplant free survival
Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Time to liver transplant or any cause of death from dosing to EOS.
Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Overall Survival: Survival measured from Day 1 (Parent Protocol) for participants who are dosed and Day -1 (Parent Protocol) for participants who are not dosed to end of study EOS (LTFU Protocol).
Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Time to any-cause death from dosing to EOS. Survival measured from Day 1 (Parent Protocol) for participants who are dosed and Day -1 (Parent Protocol) for participants who are not dosed to end of study EOS (LTFU Protocol).
Efficacy
Measured: Over 14.5 years post dosing with ECUR-506
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2025
- Study start23 Dec 2024
- Primary completionJul 2041 (estimated)
- Study completionJul 2041 (estimated)
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.
- 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
- Other
- Time perspective
- Prospective
- Enrolment
- 13 participants (estimated)
Sponsor and investigators
- Lead sponsor
- iECURE, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- George Diaz, M.D., Ph.D, Study director, iECURE, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06805695
- Sponsor's protocol ID
- ECUR-LTFU
- Status last verified
- Aug 2026
- First submitted
- 20 Dec 2024
- Last updated
- 31 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided