Detail

Basic Information Clinical Results Relationship Graph

Basic Information

Gene symbol	LDLR	Synonyms	FH, FHC, FHCL1, LDLCQ2	Type of gene	protein-coding
Chromosome	19	Map location	19p13.2	dbXrefs
Gene perturbation-related omics dataset	PerturbAtlas \| PertOrg
Description	low density lipoprotein receptor

GTO ID	GTC0286
Trial ID	NCT02651675
Disease	Familial Hypercholesterolemia
Altered gene	LDLR
Therapeutic/Target gene	Therapeutic gene
Therapy	Gene transfer
Treatment	AAV-hLDLR
Phase	Phase1\|Phase2
Recruitment status	Terminated
Title	AAV8-mediated Low Density Lipoprotein Receptor (LDLR) Gene Replacement in Subjects With Homozygous Familial Hypercholesterolemia (HoFH)
Year	2016
Country	Canada\|Italy\|Netherlands\|United States
Company sponsor	REGENXBIO Inc.
Other ID(s)	FHGT002\|P01HL059407\|2016-001446-25

Vector information

Vector	adeno-associated virus
Construct	AAV-hLDLR
Vector type	adeno-associated virus serotype 8 (AAV8) vector
Transgene/Inserted gene	human low-density lipoprotein receptor (hLDLR) gene

Clinical Result

Cohort1: dose level 1

Administration route	intravenous infusion
Dosage	2.5E12 GC/kg of body weight
Pts	3
Age	Adult, Older_Adult
Outcome	Compared to baseline, the percent change in LDL-C was an increase of 7.21%, with a standard deviation of 12.24%.
Adverse reactions	2/3(Cardiac disorders; General disorders; Infections and infestations; Respiratory, thoracic and mediastinal disorders; Vascular disorders)

Cohort2: dose level 2

Administration route	intravenous infusion
Dosage	7.5E12 GC/kg of body weight
Pts	3
Age	Adult, Older_Adult
Outcome	Compared to baseline, the percent change in LDL-C was an increase of 27.35%, with a standard deviation of 32.51%.
Adverse reactions	1/3(Cardiac disorders; hepatic enzyme increased)

Relationship Graph

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