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Basic Information Clinical Results Relationship Graph

Basic Information

Gene symbol	GBA1	Synonyms	GBA, GCB, GLUC	Type of gene	protein-coding
Chromosome	1	Map location	1q22	dbXrefs
Gene perturbation-related omics dataset	PerturbAtlas
Description	glucosylceramidase beta 1

GTO ID	GTC0001
Trial ID	NCT00001234
Disease	Gaucher's Disease
Altered gene	GBA1
Therapeutic/Target gene	Therapeutic gene
Therapy	Gene transfer
Treatment	GBA1 RTV CD34+ cells
Phase	Phase1
Recruitment status	Completed
Title	Retroviral-Mediated Transfer and Expression of Glucocerebrosidase and Ceramidtrihexosidase (a-Galactosidase A) cDNA's in Human Hematopoietic Progenitor Cells
Year	1999
Country	United States
Company sponsor	Stanford University
Other ID(s)	880019\|88-N-0019

Vector information

Vector	retrovirus
Vector type	G1Gc retroviral vector
Transgene/Inserted gene	human glucocerebrosidase cDNA
Regulatory element	MoLV promoter

Clinical Result

Cohort 1

Administration route	infusion
Dosage	0.59~3.1E6 cells/kg
Donor type	autologous
Pts	3
Age	Child, Adult, Older_Adult
Outcome	the level of corrected cells (<0.02%) is too low to result in any clinical benefit, and glucocerebrosidase enzyme activity did not increase in any patient following infusion of transduced cells.
References	PMID: 9853529

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