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A Single-arm, Prospective, Multi-center Post-market Clinical Study of Glycerol Phenylbutyrate in Chinese Patients With Urea Cycle Disorders
Led by Tongji Hospital · Updated on 2026-04-27
40
Participants Needed
5
Research Sites
252 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Urea cycle disorders (UCD) are rare diseases in China that can cause high mortality and disability, requiring long-term management due to recurring symptoms. This multi-center, prospective, single-arm study aims to evaluate the safety and effectiveness of Glycerol Phenylbutyrate in Chinese children with UCD. The goal is to provide more treatment options and improve clinical care for these patients in China. The study plans a total observation period of five years for patients on long-term treatment with this medication. The study involves 40 children aged from birth to 18 years diagnosed with various types of UCD, including carbamoyl phosphate synthetase I deficiency and others. Participants will receive Glycerol Phenylbutyrate oral liquid, with dosing based on body surface area and divided into multiple daily doses taken with meals. The study includes scheduled clinic visits at 1 month and 3 months after enrollment, followed by visits every 6 months up to 5 years. During these visits, researchers collect data on adverse events, dosage changes, hyperammonemic crises, and blood ammonia levels. Participants will undergo regular assessments including blood tests for ammonia and biochemistry, growth measurements (height, weight, head circumference), and neurocognitive evaluations at specified intervals. The primary outcome is the mean blood ammonia level at 3 months after enrollment. Secondary outcomes include ammonia levels at multiple timepoints, frequency of crises, growth data, dosage adjustments, and various neurodevelopmental scores measured annually. This comprehensive follow-up aims to monitor safety, treatment effects, and overall development throughout the five-year period.
CONDITIONS
Brief Title
A Clinical Study of Glycerol Phenylbutyrate in Chinese Patients With Urea Cycle Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female aged 0-18 years
- Willingness of the participant or legal representative to follow the treatment, dietary management, and visit plan, with signed informed consent
- Diagnosis of urea cycle disorder subtypes including carbamoyl phosphate synthetase I deficiency, ornithine translocase deficiency, citrullinemia type I, argininosuccinic aciduria, argininemia, or HHH syndrome
- Planned use of glycerol phenylbutyrate and no use of it in the past 3 months
- Women of childbearing potential and men with fertility must agree to effective contraception from consent until one month after the last dose, with a negative pregnancy test for women before starting treatment
You will not qualify if you...
- Allergy to phenylbutyrate, phenylacetate acid, phenylacetyl glutamine, or any study excipients
- Use of drugs affecting kidney clearance, increasing protein breakdown, or raising blood ammonia within 24 hours before first dose
- Use of other nitrogen-scavenging agents like sodium phenylbutyrate or sodium benzoate after enrollment
- Pregnant or breastfeeding females
- Any condition judged by the investigator to affect compliance or safety in the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 5 years
Participants take glycerol phenylbutyrate oral liquid as prescribed and are monitored for medication dosage, adverse events, hyperammonemic crises, and blood ammonia levels. Growth measurements such as height, weight, and head circumference are also collected.
Visits at 1 month, 3 months, and every 6 months thereafter until 5 years
Duration - Up to 5 years total including treatment
Participants continue to have assessments of neurocognitive outcomes and development annually after the initial 6 months of treatment.
Annual visits starting at 6 months and continuing yearly
Trial Site Locations
Total: 5 locations
1
Peking University First Hospital
Beijing, Beijing Municipality, China, 100034
Actively Recruiting
2
Guangzhou Women and Children's Medical Center
Guangzhou, Guangdong, China, 510000
Actively Recruiting
3
Tongji Hosipital
Wuhan, Hubei, China, 430030
Actively Recruiting
4
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Shanghai, Shanghai Municipality, China, 200092
Actively Recruiting
5
Children's Hospital of Zhejiang University School of Medicine
Hangzhou, Zhejiang, China
Actively Recruiting
Research Team
X
Xiaoping Luo, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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