Molecular and Pathophigiological analysis of NBAS mutations detected in a case of fever-triggered recurrent acute liver failure

Molecular and Pathophigiological analysis of NBAS mutations detected in a case of fever-triggered recurrent acute liver failure - Molecular and Pathophigiological analysis of NBAS mutations detected in a case of fever-triggered recurrent acute liver failure

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000036860

Enrollment

Registered

2019-06-01

Start date

2018-01-23

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

NBAS mutation based disease

Interventions

Genetic analyses of NBAS gene in a family with fever-triggered recurrent acute liver failure

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patient with fever-triggered recurrent acute liver failure and his family member

Exclusion criteria

Exclusion criteria: other than above described

Design outcomes

Primary

Measure	Time frame
Detection of NBAS gene mutation and pathogenesis of mutant NBAS protein	—

Countries

Japan

Contacts

Public ContactJunko Matsuda

Kawasaki Medical School Department of Pathophysiology and Metabolism

matsujun@med.kawasaki-m.ac.jp086-462-1111

Outcome results

None listed

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