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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Diagnosis ， Treatment， Genetic and Metabolic Liver Disease
• Intervention / Treatment: Other: There is no intervention

• Study Type: Observational
• Enrollment (Anticipated): 480

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with inherited metabolic liver disease

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

5

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
hyperbilirubinemia; Gilbert syndrome Crigler-Najjar syndrome Dubin-Johnson syndrome Rotor syndrome PFIC BIRC	Other: There is no intervention; The genotype of the patients was analyzed.
Wilson disease; 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.	Other: There is no intervention; The genotype of the patients was analyzed.
Hemochromatosis; 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.	Other: There is no intervention; The genotype of the patients was analyzed.
Glycogen accumulation disease; 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: There is no intervention; The genotype of the patients was analyzed.
Other types of inherited metabolic liver disease	Other: There is no intervention; The genotype of the patients was analyzed.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
death	Death during the study was the outcome event	5 years

Collaborators and Investigators

• Sponsor: Sujun Zheng

Study record dates

Study Major Dates

• Study Start (Anticipated): December 1, 2022
• Primary Completion (Anticipated): April 30, 2024
• Study Completion (Anticipated): April 30, 2025

Study Registration Dates

• First Submitted: October 27, 2022
• First Submitted That Met QC Criteria: October 27, 2022
• First Posted (Actual): November 1, 2022

Study Record Updates

• Last Update Posted (Actual): November 1, 2022
• Last Update Submitted That Met QC Criteria: October 27, 2022
• Last Verified: October 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Liver Diseases; Disease
• Other Study ID Numbers: LL-2022-048-K

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No