Niemann-Pick Disease Type C
Watchlist
Retrieved
2021-01-23
Source
Trials
—
Genes
NPC1,
LIPA,
NPC2,
PDLIM7,
APP,
SMPD1,
PSMB9,
ABCA1,
RASSF1,
CDKN2A,
TNF,
CHIT1,
LINC01193,
ERCC2,
FCER2,
IFNG,
LAMP1,
LDLR,
CD274,
MAPT,
VEGFA,
BACE1,
PTCH1,
CCL2,
SOX2,
TP53,
ERCC1,
H3P10,
ATM,
CKS1B
NPC1,
LIPA,
NPC2,
PDLIM7,
APP,
SMPD1,
PSMB9,
ABCA1,
RASSF1,
CDKN2A,
TNF,
CHIT1,
LINC01193,
ERCC2,
FCER2,
IFNG,
LAMP1,
LDLR,
CD274,
MAPT,
VEGFA,
BACE1,
PTCH1,
CCL2,
SOX2,
TP53,
ERCC1,
H3P10,
ATM,
CKS1B,
SRRM2,
APOE,
POSTN,
APOD,
WIF1,
CUL9,
NBEAL2,
SIRT1,
TARDBP,
SEZ6L,
SCO2,
ARL2BP,
DDX58,
APC,
TRIM29,
DKK3,
PDCD4,
TMEM97,
ANXA6,
HDAC6,
RAB9A,
ATP7B,
CD163,
TRAF1,
UBE2N,
UGCG,
VHL,
VIM,
VIP,
ZNF154,
BSND,
ARID1A,
ULK1,
NR0B2,
BECN1,
CDK5R1,
PER2,
ST3GAL5,
SPHK1,
ARF6,
FOXP3,
ZMYND10,
GDE1,
MIR185,
NEGR1,
NPCA1,
H19,
STPG4,
CELIAC2,
ANXA1,
MIR10B,
MIR130A,
MIR203A,
RTRAF,
MIR31,
POU5F1P3,
POU5F1P4,
UCA1,
MIR663A,
APOBEC3A_B,
UPK3B,
CNE-2,
NPB,
APOBEC3A,
ARHGAP42,
CKS1BP7,
NLK,
OTUD4,
NLRP2,
LPAR5,
GBA2,
OVOL2,
NEUROG2,
ROBO3,
GORASP1,
WNK1,
SPNS1,
HAVCR2,
FATE1,
SCGB3A1,
CDCA5,
SEZ6,
OSCP1,
TP73,
B2M,
CP,
CD58,
GCHFR,
GFAP,
HCRT,
HDAC2,
HLA-A,
HOXC6,
HSPB1,
HSP90AA1,
IGFBP6,
XRCC6,
IL1A,
IL1B,
IL12A,
IL17A,
JAK2,
JUN,
JUNB,
JUND,
GBA,
FOSB,
THBS1,
EGR1,
CPT1A,
CRP,
CTLA4,
CTNNB1,
DAP,
DAPK1,
TYMP,
S1PR3,
EPHA2,
FOS,
EIF4E,
CDKN2B,
CDK5,
FASN,
CDH1,
FCN2,
FGF2,
FOXM1,
CD40,
SCARB1,
LGALS9,
SLC6A8,
RBM3,
RELA,
REST,
SATB1,
BSG,
ALB,
CCL18,
SFRP1,
SLPI,
CCK,
BMP2,
BCL2,
STAR,
STAT3,
SYT1,
TRBV20OR9-2,
TERT,
TGFBR1,
PLAAT4,
PVALB,
PTPN12,
PTPN6,
CAV1,
MGMT,
MLH1,
MMP1,
MNAT1,
MYC,
NBN,
CASP8,
OSM,
OTC,
PAK1,
ABCB1,
PIK3CA,
POU5F1,
CALR,
CALCR,
PTK2,
CCL5
Drugs
Acetylleucine,
Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus,
Arimoclomol citrate
Acetylleucine,
Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus,
Arimoclomol citrate,
Hydroxy-Propyl-Beta-Cyclodextrin,
Miglustat
(
MIGLUSTAT DIPHARMA,
MIGLUSTAT GEN. ORPH,
YARGESA,
ZAVESCA
),
Recombinant human heat shock protein 70,
Ursodeoxycholic acid
(
DELURSAN,
URSO,
URSOLVAN
),
haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate
Registered!
Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.