Ataxia Telangiectasia
Watchlist
Retrieved
2022-04-26
Source
Trials
—
Genes
ATM,
C11orf65,
NLRP2,
H2AX,
AFP,
APTX,
ATR,
NBN,
CHEK1,
TP53,
MRE11,
TRIM29,
SETX,
CDKN1A,
FXN,
CHEK2,
TCL1B,
TRBV20OR9-2,
TCL1A,
BRCA1,
CD38,
THY1,
ETV6,
MDM2,
FEV,
RAD50,
BRCA2,
BRAF,
PRKDC,
XRS
ATM,
C11orf65,
NLRP2,
H2AX,
AFP,
APTX,
ATR,
NBN,
CHEK1,
TP53,
MRE11,
TRIM29,
SETX,
CDKN1A,
FXN,
CHEK2,
TCL1B,
TRBV20OR9-2,
TCL1A,
BRCA1,
CD38,
THY1,
ETV6,
MDM2,
FEV,
RAD50,
BRCA2,
BRAF,
PRKDC,
XRS,
NPAT,
SERPINA1,
PIK3CD,
PIK3CB,
SLC12A9,
ACAT1,
FANCD2,
PIK3CA,
IRS2,
GADD45A,
PIK3CG,
ISG15,
AGT,
STK11,
BLM,
TSHR,
IGH,
MYC,
KRAS,
KAT5,
ERBB2,
JAK3,
CYSLTR1,
IRS1,
CXCL8,
IL4,
PNKP,
GYPA,
MMP9,
HPRT1,
DYNC2H1,
FN1,
PPM1D,
MTCP1,
TERF1,
H1-0,
GH1,
GRIA4,
HLA-DRB1,
LIG4,
CDK1,
MIR421,
RNF168,
CCL24,
CAT,
CCNB1,
TPO,
MIR30A,
ARSA,
COL26A1,
CD40,
CD40LG,
FAS,
SLC1A5,
DHFR,
ACTB,
PTCH1,
TNF,
TG,
CUL5,
TFRC,
BMS1,
PDLIM7,
VEGFA,
NCOR2,
UVRAG,
U2AF1,
HERPUD1,
TYR,
TOP1,
TYMS,
TGFB1,
TGM2,
TM7SF2,
TP53BP1,
VHL,
TOP2A,
MDC1,
UBE3C,
KIAA0753,
XPA,
EXO1,
CCNB2,
H4C11,
H4C3,
H4C8,
H4C2,
H4C6,
H4C4,
H4C1,
H4C9,
SMC1A,
FOSL1,
H4C5,
H4C13,
CCDC6,
H4C14,
ARHGEF5,
ZNF148,
TP63,
YY1,
TNFSF10,
HESX1,
XRCC5,
XRCC1,
APLN,
H4C12,
TIMELESS,
ACACA,
FGF21,
RANBP9,
SPSB1,
CENPV,
SLC30A8,
FSIP1,
CNKSR3,
PLB1,
OR2AG1,
HT,
DCBLD2,
RBM45,
CANT1,
H4-16,
DTD1,
SLFN11,
PARP10,
ATRIP,
SESN2,
SLC38A1,
FLCN,
TMEM196,
ZC3H12D,
MIR708,
LOC110806263,
LOC102724971,
LOC102724334,
LOC102723407,
PGR-AS1,
COMMD3-BMI1,
KLRC4-KLRK1,
POTEF,
MALAT1,
MUC5B,
H4C15,
MIR449A,
PLF,
MIR203A,
IYD,
C12orf75,
ULBP2,
NHEJ1,
PSME3,
TTC21B,
SETD2,
DLL1,
IGHV3-69-1,
IGHV3OR16-7,
INTU,
HAVCR1,
IFT172,
HINFP,
SUMF2,
IL17RA,
KLRK1,
TREX1,
PTGDR2,
FSTL1,
STMN2,
CKAP4,
GLYAT,
CD274,
GPR132,
IL22,
IFT80,
AAGAB,
NABP2,
SMAP2,
XYLT2,
CLSPN,
ACE2,
WDR19,
WDR35,
TRAT1,
ENAH,
RNPC3,
SLC30A10,
LRRC59,
NEIL3,
WRAP53,
H2BS1,
TERT,
UPF1,
TERC,
CRYGD,
EZH2,
ETS1,
ELANE,
EGFR,
EGF,
EDN1,
E2F3,
E2F1,
DRD2,
DPYD,
DNMT1,
DLG4,
DECR1,
DCK,
CYP2D6,
CTLA4,
CSN2,
F9,
FABP1,
FANCA,
GABPA,
HLA-DPA1,
HIF1A,
GYPE,
GYPB,
GTF2H4,
GTF2H3,
GSTP1,
GAA,
FANCC,
G6PD,
FSHR,
FOS,
FLT3,
FOXO3,
FCGRT,
FCER1G,
CSF1R,
CRYAB,
TRG,
CES1,
BAX,
ATD,
SERPINC1,
AR,
APOE,
APOC3,
BIRC3,
BIRC2,
ANGPT2,
ANGPT1,
ALOX5,
AKT2,
AKT1,
AGTR2,
AGTR1,
ADRB2,
PARP1,
BCL2,
BIK,
BMI1,
CAV1,
CDKN2A,
CDK2,
CDC25C,
CD69,
CD59,
CD5L,
CCNH,
CASP9,
BMP1,
CASP8,
CASP3,
CASP1,
VPS51,
BUB1B,
BUB1,
BTF3,
HLA-DPB1,
HLA-DQB1,
HLA-DRB3,
HOXD13,
RPE65,
RGS2,
RET,
RASGRF1,
RAG2,
RAG1,
RAD51,
RAB1A,
PTGS1,
TAS2R38,
PSMC1,
PSMB9,
PSMB6,
RELN,
PRSS1,
PPARG,
PML,
RPS6KA3,
SGCA,
SLC2A1,
SSB,
TRB,
TRA,
TBXAS1,
TBXA2R,
SYP,
STAT5B,
STAT3,
SPTBN2,
SLC5A5,
SOD1,
SOAT1,
SNRPN,
SNAP25,
SLC22A2,
SLC15A1,
SLC6A12,
PLK1,
PLAT,
PLA2G4A,
IL1B,
LOX,
LIG3,
LIG1,
LBR,
KPNA4,
ITGA2B,
IL2RG,
IL1A,
MARS1,
IGF1,
IFNB1,
IFNA13,
IFNA1,
HSPA5,
HSPA4,
HSPA1B,
LTC4S,
MAS1,
ENPP2,
MUC5AC,
PAH,
NPPA,
NME1,
NFKBIA,
NFE2L2,
NFATC1,
NCAM1,
MUC4,
MGMT,
MUC1,
MTHFR,
ATP6,
MSH2,
MMP3,
MMP2,
ATXN3,
H3P10
Drugs
Acetylleucine,
Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus,
Ceftriaxone
Acetylleucine,
Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus,
Ceftriaxone,
Dexamethasone sodium phosphate encapsulated in human erythrocytes,
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!
Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.