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RECRUITINGEarly Phase 1INTERVENTIONAL

NGGT006 Gene Therapy for Homozygous Familial Hypercholesterolemia

A Clinical Study for the Safety and Efficacy of Intravenous Infusion of NGGT006 in Treatment of Homozygous Familial Hypercholesterolemia With LDLR Mutations

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

This is an early phase 1, open-label, single-center, dose-escalation, pilot trial to evaluate the safety and efficacy of an intravenous infusion of NGGT006 in homozygous familial hypercholesterolemia (HoFH) patients with LDLR mutations. NGGT006 is an adeno-associated viral (AAV) vector carrying codon-optimized human LDLR gene, driving the expression of LDLR protein with normal function and promoting the clearance of low-density lipoprotein cholesterol (LDL-C).

Who May Be Eligible (Plain English)

Who May Qualify: - Voluntarily sign willing to sign a consent form form; - Male or female, 12 ≤ age ≤ 55 years (first patient≥ 18 years), diagnosed as homozygous familial hypercholesterolemia with genetic confirmation of two mutant alleles of the LDL receptor (LDLR) gene; - AAV8 neutralizing antibodies can be negative or reduced to negative levels through methods such as plasma exchange. - Untreated LDL-C ≥10 mmol/L (386mg/ dL) or treated LDL-C ≥7 mmol/L (270mg/ dL) together with cutaneous or tendon xanthoma before age 18 years; - Had been on stable medication for ≥30 days if receiving lipid-lowering therapy (or ≥60 days if receiving alirocumab or evolocumab) prior to screening and not scheduled for addition of new drugs or dose adjustments during the study; - Agreed to follow a low-fat diet and comply with all study procedures; - Agreed to maintain a similar exercise volume and intensity to baseline during the study period; - Agreed to maintain good lifestyle habits; - No history of alcohol abuse or alcohol dependence (diagnosed as F10 in ICD-10 code); - No sexual activity for 14 days prior to administration and negative serum pregnancy test in female participants; - Participants of childbearing potential agreed to use highly effective contraception for at least 365 days from administration of NGGT006; - No plan of stent implantation within 3 months. Who Should NOT Join This Trial: - Positive for hepatitis B surface antigen, hepatitis C, human weakened immune system virus (HIV) or syphilis test; - Clinically significant abnormalities in liver function test: alanine aminotransferase (ALT) ≥2 × upper limit of normal (ULN) and/or aspartate aminotransferase (AST) ≥2 × ULN; - Baseline blood pressure ≥160/100 mmHg (1 repeat measurement is allowed); - Uncontrolled myocardial infarction or heart failure, or had surgery plan within 1 year; - Diabetes diagnosed within 3 months or with poor control (HbA1c ≥9%); - Acute or chronic kidney failure; ...See full criteria on ClinicalTrials.gov Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
Inclusion Criteria: * Voluntarily sign informed consent form; * Male or female, 12 ≤ age ≤ 55 years (first patient≥ 18 years), diagnosed as homozygous familial hypercholesterolemia with genetic confirmation of two mutant alleles of the LDL receptor (LDLR) gene; * AAV8 neutralizing antibodies can be negative or reduced to negative levels through methods such as plasma exchange. * Untreated LDL-C ≥10 mmol/L (386mg/ dL) or treated LDL-C ≥7 mmol/L (270mg/ dL) together with cutaneous or tendon xanthoma before age 18 years; * Had been on stable medication for ≥30 days if receiving lipid-lowering therapy (or ≥60 days if receiving alirocumab or evolocumab) prior to screening and not scheduled for addition of new drugs or dose adjustments during the study; * Agreed to follow a low-fat diet and comply with all study procedures; * Agreed to maintain a similar exercise volume and intensity to baseline during the study period; * Agreed to maintain good lifestyle habits; * No history of alcohol abuse or alcohol dependence (diagnosed as F10 in ICD-10 code); * No sexual activity for 14 days prior to administration and negative serum pregnancy test in female participants; * Participants of childbearing potential agreed to use highly effective contraception for at least 365 days from administration of NGGT006; * No plan of stent implantation within 3 months. Exclusion Criteria: * Positive for hepatitis B surface antigen, hepatitis C, human immunodeficiency virus (HIV) or syphilis test; * Clinically significant abnormalities in liver function test: alanine aminotransferase (ALT) ≥2 × upper limit of normal (ULN) and/or aspartate aminotransferase (AST) ≥2 × ULN; * Baseline blood pressure ≥160/100 mmHg (1 repeat measurement is allowed); * Uncontrolled myocardial infarction or heart failure, or had surgery plan within 1 year; * Diabetes diagnosed within 3 months or with poor control (HbA1c ≥9%); * Acute or chronic kidney failure; * Hemoglobin (Hb) ≥120g/L (male), Hb ≥110 (female); * Abnormal platelet counts or morphology; * History or laboratory tests suggestive of thrombosis; * Had contraindications to glucocorticoid (e.g., epilepsy, severe schizophrenia, active peptic ulcer); * Life expectancy less than 1 year; * With malignant tumors; * Liver fibrosis or liver cancer; * Previous gene therapy treatment; * Hypersensitivity to AAV or cortisone or immunosuppressants (sirolimus, rituximab, tacrolimus); * Participation in any other clinical trial within 3 months; * History of stent implantation within 1 month or myocardial infarction within 3 months; * Breastfeeding females; * Any other condition that may not be appropriate for the study in the opinion of the Investigator.

Treatments Being Tested

GENETIC

NGGT006

Single intravenous infusion of NGGT006 at dose 1 (7.5e12vg/kg), dose 2 (1.5e13vg/kg) , dose 3 (3e13vg/kg) and dose 4 (4e13vg/kg).

Locations (1)

First Affiliated Hospital of Xian Jiaotong University
Xi'an, Shaanxi, China