Carglumic Acid Administration for OTC Deficienscy

JRCT ID: jRCTs041190055

Registered date:24/07/2019

Basic Information

• Recruitment status: Complete
• Health condition(s) or Problem(s) studied: ornitine transcarbamylase deficiency patients
• Date of first enrollment: 24/07/2019
• Target sample size: 2
• Study type: Interventional
• Intervention(s): administraton of carglumic acid

Outcome(s)

• Primary Outcome: change of blood glutamine levels
• Secondary Outcome: change of daily protein intake

Key inclusion & exclusion criteria

• Age minimum: Not applicable
• Age maximum: < 75age old
• Gender: Both

Include 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.

Exclude 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.

Related Information

• Primary Sponsor: Ito Tetsuya
• Source(s) of Monetary Support: Recordati Rare Diseases Japan