A Clinical Study of Glycerol Phenylbutyrate in Chinese Patients With Urea Cycle Disorders
A Single-arm, Prospective, Multi-center Post-market Clinical Study of Glycerol Phenylbutyrate in Chinese Patients With Urea Cycle Disorders
Tongji Hospital
40 participants
Dec 9, 2025
OBSERVATIONAL
Conditions
Summary
Urea cycle disorders (UCD) are rare diseases in China, would lead to high mortality and disability, which require long-term management due to the recurrent symptoms. This multi-center, prospective, single-arm study was designed to assess the efficacy and safety of Glycerol Phenylbutyrate for Chinese pediatric patients with UCD, to provide the additional references and treatment options for Chinese UCD patients, and enhance the clinical management of UCD in China. This study primarily observes patients with UCD who are on long-term treatment with glyceryl phenylbutyrate, the total planned observation period is 5 years.
Eligibility
Inclusion Criteria5
- Male or female aged 0-18 years;
- Subject and/or subject's legally authorized representative willing to follow the therapeutic regimen, dietary management and visit plan of the study, and voluntarily signing informed consent form;
- Patients with the following subtypes of UCD: Carbamoyl phosphate synthetase I deficiency, Ornithine translocase deficiency, citrullinemia type I, argininosuccinic aciduria, argininemia, and hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome;
- Patients planned to use glycerol phenylbutyrate who have not used it in past 3 months (including at the time of 3 months);
- Men with fertility and women of childbearing potential (with menstruation) who are willing to take effective contraceptive measures during the period from the date of signing the informed consent to 1 months after the last dose of the study drug, such as abstinence, condoms, intra-uterine contraceptive devices, and double barrier methods (such as condoms + contraceptive diaphragms). Pregnancy test results must be negative for women of childbearing age within ≤ 7 days before the initial administration of study drug.
Exclusion Criteria5
- Hypersensitivity to any of the active ingredient, including phenylbutyrate (PBA), phenylacetate acid (PAA) and phenylacetyl glutamine (PAGN), or excipients;
- Use of any drug known to significantly affect renal clearance (such as probenecid) or increase protein catabolism (such as corticosteroids) or other drugs known to increase blood ammonia levels (such as valproate) within 24 h before the first administration;
- Use of other nitrogen-scavenging agent at the same time after enrollment, such as sodium phenylbutyrate and sodium benzoate;
- Pregnant or breastfeeding females.
- Other reasons, in the opinion of the investigator, that may affect the patient's compliance and safety in participating in the study.
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Interventions
Administration and dosage: The recommended total daily dose of glycerol phenylbutyrate is calculated based on the patient's body surface area, ranging from 4.5 mL/m2/d to 11.2 mL/m2/d: 1. Recommended initial dose in phenylbutyrate-naïve patients * Patients with body surface area (BSA) \< 1.3 m2: 8.5 mL/m2/day * Patients with body surface area (BSA) ≥ 1.3 m2: 7 mL/m2/day 2. Initial dose for patients switching from sodium phenylbutyrate to glycerol phenylbutyrate: Total daily dose of glycerol phenylbutyrate (ml) = total daily dose of sodium phenylbutyrate granules (g) ×0.81 Medication Schedule: The daily total dose should be divided into equal amounts and administered with each meal or feeding (such as three to six times daily).
Locations(5)
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NCT06904027