ornitine transcarbamylase deficiency patients
Conditions
Interventions
administraton of carglumic acid
ornitine transcarbamylase deficiency, carglumic acid
Sponsors
Ito Tetsuya
Eligibility
Sex/Gender
All
Inclusion criteria
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
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| change of blood glutamine levels | — |
Secondary
| Measure | Time frame |
|---|---|
| change of daily protein intake | — |
Contacts
Public ContactTetsuya Ito
Fujita Health University Hospital
Outcome results
None listed