Glycogen Storage Disease Due To Acid Maltase Deficiency
Watchlist
Retrieved
2021-01-23
Source
Trials
—
Genes
GAA,
TNNT2,
SI,
VEGFA,
HTRA1,
CFH,
MGAM,
ARMS2,
AMD1,
AMD1P2,
KDR,
PLXNA2,
APOE,
CCL2,
SERPINF1,
PGF,
CFB,
RPE,
CRP,
CCR2,
FLT1,
PRKAG2,
ELN,
ELF3,
IGF2R,
G6PC,
CX3CR1,
C3,
SKIV2L,
IL10
GAA,
TNNT2,
SI,
VEGFA,
HTRA1,
CFH,
MGAM,
ARMS2,
AMD1,
AMD1P2,
KDR,
PLXNA2,
APOE,
CCL2,
SERPINF1,
PGF,
CFB,
RPE,
CRP,
CCR2,
FLT1,
PRKAG2,
ELN,
ELF3,
IGF2R,
G6PC,
CX3CR1,
C3,
SKIV2L,
IL10,
HMCN1,
SOD1,
SOD2,
IL6,
TFEB,
PON1,
MAN2B1,
SERPING1,
GLA,
NFE2L2,
IGF1,
AAVS1,
ACE,
IDUA,
ELOVL4,
TNF,
TLR3,
RIPK1,
FZD4,
NELFE,
CXCL12,
SLC6A8,
VLDLR,
CXCR4,
ZFP36,
VWF,
TFR2,
VIM,
UGT1A,
TTR,
STC1,
TRAF6,
TNXB,
STBD1,
TIMP3,
NAT2,
CFHR4,
ADIPOQ,
PLEKHA1,
UGT1A5,
UGT1A9,
UGT1A4,
UGT1A1,
UGT1A3,
CCDC40,
APOM,
PNPLA2,
SLURP1,
FKBPL,
ABCG1,
CIAO3,
ARMC9,
ACAD10,
COL18A1,
NLRP3,
C1QTNF5,
ASPM,
TEC,
C20orf181,
UGT1A6,
UGT1A7,
UGT1A8,
UGT1A10,
SEMA3E,
ATP6AP2,
AKR1A1,
ARIH2,
CXCL13,
SLCO1B1,
CXCL6,
PPARGC1A,
KERA,
IKZF2,
DKK1,
SLC16A8,
SLC17A5,
HPLH1,
HPGDS,
TBK1,
PIK3R4,
ANGPTL4,
DDIT4,
CXCL5,
NPPB,
CCL11,
RYR1,
CNTF,
COL8A1,
CP,
CPT2,
DES,
DHFR,
NQO1,
EPO,
ERCC6,
F2,
F10,
EFEMP1,
FCGR3A,
FCGR3B,
FECH,
FHL1,
FN1,
CCR3,
CCR1,
CETP,
ANG,
ACTB,
ACTN3,
ADM,
PARP1,
AGL,
AHR,
ALB,
ANPEP,
CD59,
XIAP,
APOA1,
APRT,
ARSB,
BDNF,
CALCR,
CALR,
FPR1,
FUT1,
GALC,
ND5,
LRP5,
MAP2,
MFAP1,
MFGE8,
CXCL9,
MME,
MMP9,
MYP2,
LIPC,
NGF,
SERPINA1,
PPARA,
PPARG,
MAPK3,
RAD51B,
PRPH2,
LPA,
LAMP2,
GAS6,
CFHR2,
GBE1,
MSTN,
SFN,
CXCL1,
GSTP1,
GSTZ1,
GYG1,
HIF1A,
ITGAM,
IDS,
CFI,
IGFALS,
IL1B,
CXCL8,
IL17A,
CXCL10,
LINC01672
Drugs
1-deoxynojirimycin hydrochloride,
Adeno-associated viral vector serotype 8 containing the human acid alpha-glucosidase gene,
Alglucosidase alfa
(
LUMIZYME,
MYOZYME
)
1-deoxynojirimycin hydrochloride,
Adeno-associated viral vector serotype 8 containing the human acid alpha-glucosidase gene,
Alglucosidase alfa
(
LUMIZYME,
MYOZYME
),
Clenbuterol,
Glycosylation independent lysosomal targeting (GILT)-tagged recombinant human acid alpha glucosidase,
Miglustat
(
MIGLUSTAT DIPHARMA,
MIGLUSTAT GEN. ORPH,
YARGESA,
ZAVESCA
),
Recombinant adeno-associated viral vector containing a bioengineered capsid serotype AAV-rh74 and a codon-optimised expression cassette to drive the expression of a secretable form of human acid alpha-glucosidase,
Recombinant adeno-associated viral vector containing human acid alfa-glucosidase-gene,
Recombinant human acid alpha-glucosidase,
Recombinant human acid alpha-glucosidase conjugated with mannose-6-phosphate analogues,
Recombinant human alpha-glucosidase conjugated with multiple copies of synthetic bismannose-6-phosphate-tetra-mannose glycan
Registered!
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal, cardiac, and respiratory muscles, as well as the liver and nervous system, due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy, generalized muscle weakness, poor feeding and failure to thrive, and respiratory insufficiency, and late-onset disease manifesting before or after twelve months of age without cardiomyopathy, with proximal muscle weakness and respiratory insufficiency.