sodium pyruvate therapy for the patients with citrin deficiency

sodium pyruvate therapy for the patients with citrin deficiency - pyruvate therapy for citrin deficiency

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000004290

Enrollment

Registered

2010-10-01

Start date

2010-10-01

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

citrin deficiency

Interventions

1) Medicine: sodium pyruvate 2) Duration: 16 weeks, If the patient hopes, it can continue. 3) Amount: 100 - 300 mg/kg/day 4) Number: 2-3 times/day after eating orally

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1) the patients with adult onset type II citrullinemia. 2) the patients with the symptoms of easy fatigability, growth retardation, and hypoglycemia in the compensation period. 3)the patients with severe hepatic damage by NICCD. 4)the patient that informed consent by the document was provided.

Exclusion criteria

Exclusion criteria: 1) pregnant woman

Design outcomes

Primary

Measure	Time frame
Adult onset type II citrullinemia (16 weeks later): 1) improvement of citrullinemia and hyperannmonemia 2) improvement of impaired consciousness. 3) improvement of QOL. Compensation period (16 weeks later): 1) improvement of citrullinemia and oxidative stress 2) improvement of QOL, 3) improvement of appetite habit. Neonatal intrahepatic cholestasis caused by citrin deficiency: 1) improvement of cholestasis and citrullinemia 2) catch up of body weight	—

Measure

Time frame

Adult onset type II citrullinemia (16 weeks later): 1) improvement of citrullinemia and hyperannmonemia 2) improvement of impaired consciousness. 3) improvement of QOL. Compensation period (16 weeks later): 1) improvement of citrullinemia and oxidative stress 2) improvement of QOL, 3) improvement of appetite habit. Neonatal intrahepatic cholestasis caused by citrin deficiency: 1) improvement of cholestasis and citrullinemia 2) catch up of body weight

—

Countries

Japan

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026