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Clinical study of inborn errors of bile acid synthesis

Clinical study of inborn errors of bile acid synthesis

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2100048200
Enrollment
Unknown
Registered
2021-07-04
Start date
2021-07-01
Completion date
Unknown
Last updated
2022-03-14

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

Conditions

Inborn errors of bile acid synthesis

Interventions

Case series:No

Sponsors

Department of Pediatric Medicine,The Seventh Medical Center of Chinese PLA General Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1.Infant onset; 2.Clinical manifestations of hyperbilirubinemia, growth retardation, fatty diarrhea, liver enlargement or cirrhosis, liver failure, a variety of fat soluble vitamin deficiency of the corresponding symptoms; 3.DNA sequence mutation of some enzyme in bile acid synthesis was found by gene detection.

Exclusion criteria

Exclusion criteria: Except for progressive familial intrahepatic cholestasis and Zellweger syndrome.

Design outcomes

Primary

MeasureTime frame
bile acid;

Countries

China

Contacts

Public ContactXu Xuan

Department of Pediatric Medicine, Seventh Medical Center of Chinese PLA General Hospital

xuxuan2008-gz@163.com+86 15810286321

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026