ClinicalTrials.gg
RecruitingNCT07667387Updated Aug 26, 2026

Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders

A Phase 1/2 interventional study of LNP.UCD.ABE in Urea Cycle Disorders and Carbamoyl-Phosphate Synthase I Deficiency, sponsored by Rebecca Ahrens-Nicklas. Recruiting at 1 site in United States. Open to participants aged 24 Hours to 5 Years. Per ClinicalTrials.gov, last updated 2026-08-26.

Sponsored by Rebecca Ahrens-Nicklas · Phase 1/2, Interventional, and Treatment

From the registry’s dates

  • Started Aug 2026; still recruiting 3 months later.
Phase
Phase 1/2
Study type
Interventional
Enrollment
7
Allocation
Not applicable
Ages
24 Hours to 5 Years
Sex
All
01

Study summary

This is a single-site Phase 1/2 open-label umbrella clinical trial designed to evaluate the safety, tolerability, and efficacy of a single intravenous dose of LNP.UCD.ABE in 5 pediatric subjects with severe infantile-onset UCDs. This is a master clinical protocol in which subjects with a variant in a urea cycle disorder (UCD) gene (CPS1, OTC, ASS1, ASL, ARG, NAGS, or SLC25A15) that is demonstrated to be amenable to corrective editing by an adenine base editor (ABE) would be eligible for enrollment.

Read the detailed description

Humans ingest protein to support growth and the synthesis of a number of key macromolecules. Nitrogen waste generated from protein catabolism is converted to ammonia, which under normal physiologic conditions is converted to urea via the urea cycle. Urea is then excreted in urine to maintain whole-body nitrogen homeostasis. Loss of function of any of the six enzymes of the urea cycle-encoded by CPS1 (carbamoyl phosphate synthetase 1), OTC (ornithine transcarbamylase), ASS1 (argininosuccinate synthetase), ASL (argininosuccinate lyase), ARG (arginase), and NAGS (N-acetylglutamate synthetase)-results in a urea cycle disorder (UCD). In addition loss of the ornithine transporter, ORNT1 (encoded by SLC25A15), can also lead to disease.

Severe UCD patients typically present as neonates and have a profound decrease in function in any one of the six enzymes of the urea cycle or a lack of function of the ornithine transporter that carries urea cycle intermediates. This results in toxic accumulation of ammonia in the blood and accumulation of specific urea cycle amino acids that aid in diagnoses and therapeutic monitoring. Patients are at risk of developing extremely elevated blood ammonia levels (hyperammonemia) that can lead acutely to coma and death and chronically to profound neurologic dysfunction.

LNP.UCD.ABE is an investigational in vivo gene editing product proposed for the treatment of hyperammonemia in patients under 5 years of age with deficiencies in enzymes or a related transporter of the urea cycle who are homozygous or compound heterozygous for a pathogenic variant in any UCD gene, including CPS1, OTC, ASS1, ASL, ARG, NAGS, and SLC25A15, that can be efficiently corrected by an adenine base editor (ABE).

Each subject will have a personalized variant-specific LNP.UCD.ABE developed and evaluated during the Screening period, which may last up to 8 months. Subjects will eligible for a lead in period to establish a stable diet. After the subject's drug is developed and lead in has been completed, the subject will be administered LNP.UCD.ABE via a single intravenous infusion. After LNP.UCD.ABE administration, participants will be followed for safety and efficacy for 52 weeks.

02

Conditions studied

  • Urea Cycle Disorders
  • Carbamoyl-Phosphate Synthase I Deficiency
03

In context

Urea Cycle Disorders, Inborn

66 studies on the registry are indexed under Urea Cycle Disorders, Inborn; 14 are open to participants now.

This study's planned enrollment of 7 is below the median of 17 across 39 interventional studies indexed under Urea Cycle Disorders, Inborn.

Browse Urea Cycle Disorders, Inborn studies →

Lead sponsor

This is the only study on the registry with Rebecca Ahrens-Nicklas as lead sponsor.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
24 Hours to 5 Years
Sexes eligible
All
Accepts healthy volunteers
No

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  1. Diagnosis of a severe urea cycle disorder, in the judgement of the investigators.
  2. Molecular testing demonstrating homozygosity or compound heterozygosity for a disease-causing mutation in CPS1 that is targeted by a variant-specific version of the LNP.UCD.ABE drug product.
  3. Current or historical biochemical testing consistent with a urea cycle disorder
  4. At least one of the subject's alleles must be amenable to base editing by LNP.UCD.ABE, as assessed in vitro
  5. A history of an ammonia level of ≥400 μmol/L prior to age 12 months, unless a diagnosis was made prenatally and care was initiated immediately after birth

    • If the patient is taking a nitrogen scavenger medication, their ammonia level may currently be in the normal range
    • If the patient is diagnosed prenatally, then personal history, family history, or analysis of mutations should indicate a high likelihood of a severe UCD.
  6. Subjects more than 8 weeks from the initial diagnosis of a UCD must have demonstrated:

    • a persistent need for dietary protein restriction and chronic administration of a nitrogen scavenger medication, AND / OR
    • a recurrent hyperammonemic event AND / OR
    • a history of a hyperammonemia-induced seizure
  7. Weight >3.5 kg at the time of screening
  8. Legal guardian(s) capable of giving signed , which includes compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol.

Exclusion criteria

Exclusion Criteria:

  1. Abnormal liver function, electrolyte, coagulation, or blood count laboratory values thought not attributable to the underlying urea cycle disorder;
  2. Demonstrated need for urgent liver transplantation due to liver failure, in the opinion of the investigators;
  3. Participation in a prior gene therapy trial or participation in a trial of an product in the last 12 months;
  4. History of liver transplantation;
  5. Any other diseases or conditions that the investigators would consider to pose unacceptable risk to the subject;
  6. Inability or unwillingness to comply with the visit schedule and study assessments;
  7. Any genetic variation in the causative urea cycle disorder gene that, in the opinion of the investigators, may decrease the potential efficacy of the drug product;
  8. History of severe or anaphylaxis to polyethylene glycol (PEG)-containing products, such as PEG-containing vaccines or laxatives
Terms in these criteria, in plain language(3)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

Investigational drug or device

A drug or device being studied in a clinical trial.

It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.

Hypersensitivity

An allergy, or another reaction of the immune system, to a substance. “Hypersensitivity to the study drug” means a known allergic reaction to it — not every side effect a medicine can have.

05

Study design

Phase
Phase 1 / Phase 2
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
7 participants (estimated)

Study arms

  • Experimental
    Experimental

    Biological: LNP.UCD.ABE

Interventions

  • BiologicalLNP.UCD.ABE

    Each subject will have a personalized variant-specific LNP.UCD.ABE developed and evaluated in real time. Each member of the LNP.UCD.ABE drug product (DP) family is a lipid nanoparticle (LNP)-based editing therapeutic comprising lipid excipients, a messenger RNA (mRNA) drug substance (DS) encoding an adenine base editor (ABE), and a single guide RNA (gRNA) DS.

06

What researchers measure

Primary outcomes

  1. Safety and tolerability of a single intravenous dose of LNP.UCD.ABE

    Incidence of treatment-emergent adverse events as assessed by CTCAE version 6.0 criteria at 52 weeks after LNP.UCD.ABE administration.

    Time frame: 52 weeks

Secondary outcomes

  1. Clinical efficacy of a single intravenous dose of LNP.UCD.ABE

    The proportion of the population that can tolerate: 1. an increase in protein intake to 100% of the recommended dietary allowance (RDA) for age and/or at least a 50% reduction in the nitrogen scavenger medication dose, without an associated hyperammonemic event \[defined as an ammonia level ≥ 2.5× upper limit of normal (ULN) on a non-hemolyzed specimen and the presence of symptoms of hyperammonemia\], by 16 weeks after administration of LNP.UCD.ABE.

    Time frame: 16 weeks

07

Study locations

1 of 1 sites recruiting
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Aug 2026 (actual). Primary completion is estimated for Sep 2028, 25 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Jun 18, 2026
First posted
Jun 25, 2026
StartActual
Aug 7, 2026
Primary completionEst.
Sep 2028
CompletionEst.
Sep 2028
Last update
Aug 26, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Aug 26, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT07667387
Lead sponsor
Rebecca Ahrens-Nicklas
Collaborators
National Institute of Neurological Disorders and Stroke (NINDS), Advanced Research Projects Agency for Health (ARPA-H)
Responsible party
Rebecca Ahrens-Nicklas (Associate Chief for Research, Division of Human Genetics; Director, Gene Therapy for Inherited Metabolic Disorders Frontier Program, Children's Hospital of Philadelphia) — Sponsor-investigator
First posted
Jun 25, 2026
Start date
Aug 7, 2026
Primary completion
Sep 2028 (estimated)
Completion
Sep 2028 (estimated)
Last update
Aug 26, 2026

Study contacts

Sarah McCague
Contact
cigt@chop.edu
267-426-1464
Rebecca Ahrens-Nicklas, M.D., Ph.D.
principal investigator · Children's Hospital of Philadelphia

Oversight

Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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