Adult-onset citrullinemia (CTLN2)
Conditions
Interventions
Patients are started to administer LOLA at 3g TID (per os) and three days later, the dose is up to 6g TID (per os) if patients have any adverse events.
Sponsors
Yazaki Masahide
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1) Adult patients(more than 20 yo) with adult-onset citrullinemia patients at obtaining informed consent 2) Patients who were confirmed citrin-deficiency in the liver by western blot analysis or SLC25A13 gene analysis. 3) Patients who have raised plasma levels of ammonia (more than 70 micro g/dL) and/or citrulline (more than 40 nmol/mL). 4) Patients obtained written informed consent
Exclusion criteria
Exclusion criteria: 1) Patients who previously underwent liver-transplant 2) Expectant and lactating patients 3) Patients with renal dysfunction (serum Cr more than 2.0 mg/dL or dialysis patients) 4) Patients who are receiving therapies for hepatic cancer (Patients who had made a completely recovery from hepatic cancer are not excluded) 5) Others (patients who are judged to be unqualified for this clinical study)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Decrease in plasma levels of ammonia and /or citrulline at 12 weeks and 3.5 years after start of LOLA | — |
Secondary
| Measure | Time frame |
|---|---|
| Improvements of severity of hepatic encephalopathy (improvement of the grade of hepatic encephalopathy and neuropsychological tests) | — |
Contacts
Public ContactMasahide Yazaki
Institute for Biomedical Sciences, Shinshu University
Outcome results
None listed