Research on the Clinical Characteristics and Key Diagnosis and Treatment Technology of Genetic and Metabolic Liver Disease

Not yet recruiting

• Conditions: Diagnosis ， Treatment， Genetic and Metabolic Liver Disease
• Interventions: Other: There is no intervention

• Registration Number: NCT05601557
• Lead Sponsor: Sujun Zheng

Brief Summary

1. Establish a follow-up cohort of genetic and metabolic liver disease in The Chinese population, and carry out research on disease spectrum, clinical characteristics and personalized diagnosis and treatment to improve the level of diagnosis and treatment.

2. Establish a multidisciplinary collaborative diagnosis and treatment model of genetic metabolic liver disease, develop and promote diagnosis and treatment paths, and improve the diagnosis and treatment ability of genetic metabolic liver disease in Beijing and even the whole country.

3. Establish a new CRISPR gene diagnosis technology to realize fast and low-cost genetic testing.

4. Elucidating the genetic mutation spectrum of common genetic and metabolic liver disease in China is helpful to accurate gene diagnosis and functional research.

5. Study the genotype-phenotype, mutation and clinical outcome relationship and influencing factors of the common genetic and metabolic liver disease population in China, to guide the early diagnosis, early treatment and improve the prognosis.

Detailed Description

Not available

Study Timeline

• Status Verified: 2022-10
• Study First Submitted: 2022-10-27
• Study First Submitted QC: 2022-10-27
• Last Update Submitted: 2022-10-27
• Study First Posted: 2022-11-01
• Last Update Posted: 2022-11-01
• Study Start: 2022-12-01
• Primary Completion: 2024-04-30
• Study Completion: 2025-04-30

Recruitment & Eligibility

• Status: NOT_YET_RECRUITING
• Sex: All
• Target Recruitment: 480

Inclusion Criteria

Meet the diagnostic criteria of each disease.

Exclusion Criteria

1. Co-infected with hepatitis B virus, hepatitis C virus and HIV;
2. Patients with liver fibrosis and cirrhosis caused by other causes;
3. Patients with alcoholic liver disease and autoimmune liver disease;
4. Liver malignancy has been suggested or confirmed by evidence;
5. Combined with other serious systemic diseases.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
hyperbilirubinemia	There is no intervention	Gilbert syndrome Crigler-Najjar syndrome Dubin-Johnson syndrome Rotor syndrome PFIC BIRC
Wilson disease	There is no intervention	Leipzig score system was used for diagnosis, and the total score ≥4 points could be confirmed. The total score of 3 is suspected diagnosis, which requires further examination. A total score of 2 or less is not considered for diagnosis.
Hemochromatosis	There is no intervention	① clinical manifestations of extensive skin pigmentation, bronzing; Decline to disappearance of sexual function; Mild hepatosplenomegaly, may appear jaundice; The heart is enlarged; Pain and swelling mainly in metacarpophalangeal joints; Decreased glucose tolerance and increased blood glucose; ② Serum iron was significantly increased, serum transferrin was normal or decreased, transferrin saturation was significantly increased, often more than 62%, serum ferritin was significantly increased, often more than 500ug/L; (3)/HJV/HAMP TFR2 / SLC40A1 HFE gene mutation.
Glycogen accumulation disease	There is no intervention	According to different types, there may be the following manifestations, which need specific analysis. ① Clinical manifestations of abdominal distension, fasting hypoglycemia and other symptoms; ② Laboratory examination showed metabolic acidosis, hyperlactic acidemia, hyperuricemia and hyperlipidemia; ③ Abdominal CT showed enlarged liver volume; ④ Serum glucosidase activity decreased; (5) the GAA/G6PC/SLC374A/AGL/PYG/PHK gene mutations.
Other types of inherited metabolic liver disease	There is no intervention	-

Primary Outcome Measures

Name	Time	Method
death	5 years	Death during the study was the outcome event