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A Clinical Study of Carglumic Acid in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

Carglumic Acid Administration for OTC Deficienscy

2

OTC deficiency patient, 9-years-old girl OTC deficiency patient, 15-years-old girl

The first case, a 15-year-old girl, was examined in August 2019, and the second case, a 9-year-old girl, was examined in March 2020.

No adverse events were observed during the study period and during subsequent observations. The clinical symptoms were stable in both cases.

In the first case, no significant changes in blood ammonia and glutamine level were observed before, during, and after administration of calglumate. In the second case, the blood ammonia and glutamine levels were lower during the administration than before the administration of calglumate. After administration, the blood ammonia level continued to be low, but a slight increase in glutamine level was observed.

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.

Dec. 11, 2020

No

No plan to share IPD

https://jrct.mhlw.go.jp/latest-detail/jRCTs041190055

Ito Tetsuya

Fujita Health University Hospital

1-98, Dengakugakubo, Kutsukake-cho, toyoake, Aichi

itotetsu@fujita-hu.ac.jp

Ito Tetsuya

Fujita Health University Hospital

1-98, Dengakugakubo, Kutsukake-cho, toyoake, Aichi

+81-562-93-9251

itotetsu@fujita-hu.ac.jp

Complete

July. 24, 2019

Interventional

non-randomized controlled trial

open(masking not used)

active control

single assignment

treatment purpose

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.

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.

Both

ornitine transcarbamylase deficiency patients

administraton of carglumic acid

ornitine transcarbamylase deficiency, carglumic acid

change of blood glutamine levels

change of daily protein intake

+81-562-93-2865

July. 19, 2019

none