Carglumic Acid Administration for OTC Deficienscy

Phase 4

• Conditions: ornitine transcarbamylase deficiency patients

• Registration Number: JPRN-jRCTs041190055
• Lead Sponsor: Ito Tetsuya

Brief Summary

In one case, the administration of calglumic acid decreased the blood glutamine level and stabilized the ammonia level during the administration period, but in the other case, no significant change was observed. In this study, the clear therapeutic effect was not observed. Since the clinical severity and genotype of the two cases were different, our data indicate that the effect of calglumate may depend on their severity of residual activity and can be effective in some cases.

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2019-07-24
• Study Completion: 2020-11-14
• Last Update Posted: 17 October 2023

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 2

Inclusion Criteria

1. Chronic phase patients with genetically diagnosed ornitine transcarbamylase (OTC) deficiency.
2. Patients with the blood ammonia levels>60ug/dL(neonate:>200ug/dL, infant:>100ug/dL) under the treatment with Low-protain daiet, phenylbutyrate and citrurine administration. Or patients whoes blood ammonia level was two times higher than the average of before 6 months at outpatients clinic.
3. Male and female, below 75 years old at informed concent is obtained.
4. Patients who obtained written informed consent form the patient or legal representative.

Exclusion Criteria

1. Other types of urea cycle disorders or patients with organic acidemias.
2. Hyperammonemia due to acquired amino acid metabolism abnormality such as vilal hepatites, port-systemic shunt, biliary atresia or hepatic failure.
3. Completely defected patients of OTC activity.
4. Liver transplanted patients.
5. Patients who reseved dialysis within two days before the treatment.
6. Past histry of symptomatic worsening after drug administration, occurrence of adverse event or hypersensitivity.
7. Patients with severe hepatic, renal or cardiac disease
8. Patients who is pregnant or may be pregnant, or lactating.
9. Patients with drug hypersensitivity.
10. Patients who are involved in other clinical trials or had been involved within the last 3 months.
11. Patients who are determined as disqualified by attending physician.

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
change of blood glutamine levels

Secondary Outcome Measures

Name	Time	Method
change of daily protein intake