X-Linked Adrenoleukodystrophy
Watchlist
Retrieved
2022-04-26
Source
Trials
—
Genes
ABCD1,
IFNG,
SOD2,
PEX13,
HMOX1,
PEX26,
PEX1,
CYP2E1,
ABCD2,
TNF,
ABCB6,
TLR4,
ABCG2,
ABCD3,
PNPLA3,
AMN,
CD14,
SLC27A2,
ACSBG1,
IL10,
IL1B,
IL6,
HAMP,
TGFB1,
TM6SF2,
NFE2L2,
AKR1B1P2,
STAT3,
ELOVL1,
ACTB
ABCD1,
IFNG,
SOD2,
PEX13,
HMOX1,
PEX26,
PEX1,
CYP2E1,
ABCD2,
TNF,
ABCB6,
TLR4,
ABCG2,
ABCD3,
PNPLA3,
AMN,
CD14,
SLC27A2,
ACSBG1,
IL10,
IL1B,
IL6,
HAMP,
TGFB1,
TM6SF2,
NFE2L2,
AKR1B1P2,
STAT3,
ELOVL1,
ACTB,
ALDH2,
HFE,
AKR1A1,
ABCA4,
GABPA,
GPT,
BCL2,
SIRT1,
MIR122,
MOG,
SPP1,
ST8SIA4,
CTNNB1,
ADH1C,
GLB1,
ST14,
HMGB1,
IL22,
GSTM1,
ELANE,
GSTP1,
MFAP1,
NR1H4,
APRT,
CCR2,
PRKAA1,
MIR34A,
IGF1,
ABCD4,
GSTK1,
ANXA2,
BCAP31,
SLCO6A1,
IL33,
POMC,
POTEF,
LBP,
PPARA,
HSD17B4,
IL1A,
COX8A,
CD34,
SOCS3,
CHST3,
PCSK7,
NR1I3,
CLOCK,
GRAP2,
EIF2AK3,
ZEB2,
NAT2,
NOL3,
WASF1,
ST2,
STIM1,
TAC1,
TCF4,
TCF7L2,
TFRC,
TJP1,
TLR2,
TLR3,
TPO,
TTR,
UBE2I,
UCHL1,
UCP2,
VDR,
VLDLR,
XBP1,
AIMP2,
CYP4F2,
ABCB11,
BECN1,
MBTPS1,
SQSTM1,
EIF2B2,
ENDOU,
TRPV1,
TREX1,
AKT3,
HSD17B13,
DEPTOR,
MBOAT7,
GRHL2,
TET1,
ACSBG2,
DGAT2,
GGTLC1,
IL17F,
EXOSC6,
RBM45,
PCSK9,
STON1-GTF2A1L,
MIR155,
PPIF,
MIR200A,
MIR212,
POU5F1P3,
POU5F1P4,
GGTLC5P,
GGTLC3,
GGT2,
GGTLC4P,
PBC2,
LOC102723407,
LOC102724197,
CBSL,
SPHK2,
PIWIL2,
UGT1A1,
SIRT6,
NAMPT,
PLIN3,
ACAA2,
ATG7,
AHSA1,
KHDRBS1,
SLC27A5,
GTF2A1L,
STON1,
SCAP,
LPIN1,
NUP62,
RNF19A,
CHMP2B,
POLDIP2,
RNU1-1,
HPGDS,
IGHV3OR16-7,
IGHV3-69-1,
SNX10,
IL19,
SLC40A1,
NOX4,
DCTN4,
PIPOX,
SPINK1,
PRKAA2,
SNCA,
DLAT,
CHI3L1,
CHIT1,
ERCC8,
CLTC,
ABCC2,
CNR1,
CRK,
MAPK14,
CSH1,
CSH2,
NCAN,
CYP2B6,
CYP21A2,
DMPK,
GSTA1,
DMRT1,
DNASE1,
ATN1,
FBL,
FOXO3,
MTOR,
NR5A1,
FUT1,
G6PD,
MSTN,
GGT1,
GJB1,
GLUL,
CFTR,
CES1,
CD44,
CD19,
ABR,
ACAA1,
ADH1B,
ADH5,
AFM,
AKT1,
ALB,
AKR1B1,
ALOX15,
AMCN,
FAS,
AQP2,
ARRB2,
ATF4,
AVP,
BAX,
BCHE,
C5,
C5AR1,
CASP1,
CASP3,
CASP8,
CBS,
CD1A,
CD1B,
CD1C,
CD1D,
GSK3B,
GSTT1,
SLC6A8,
MAPK1,
PDE4A,
PEX6,
PHYH,
PIK3CA,
PIK3CB,
PIK3CD,
PIK3CG,
PMP22,
POU5F1,
PPARD,
PPARG,
PPID,
PRKAB1,
MAPK3,
GTF2H1,
MAPK8,
PRSS1,
RASGRF2,
RHEB,
BRD2,
ROS1,
S100A4,
S100A10,
CCL2,
CCL22,
SRSF4,
SGCA,
SLC4A1,
PCNA,
SERPINE1,
NVL,
NTF3,
HADHB,
HADH,
HIF1A,
HLA-DRB1,
HSD11B1,
HSPA5,
HSPA9,
HSPD1,
HSPG2,
IFNB1,
IGH,
IL1RN,
IL4,
IL12B,
IL17A,
IRF3,
KDR,
KRT18,
L1CAM,
LAMP1,
LAMP2,
LRP6,
MAG,
MBP,
MYD88,
GADD45B,
SLC11A2,
LOC102724971
Drugs
Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus,
Autologous haematopoietic stem cells transduced with lentiviral vector Lenti-D encoding the human ABCD1 cDNA,
Hydrocortisone
(
ALKINDI
)
Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus,
Autologous haematopoietic stem cells transduced with lentiviral vector Lenti-D encoding the human ABCD1 cDNA,
Hydrocortisone
(
ALKINDI
),
Hydrocortisone (modified release tablet)
(
PLENADREN
),
Hydroxypioglitazone,
Pioglitazone,
Prasterone,
Temsirolimus
(
TORISEL
),
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!
X-linked adrenoleukodystrophy (X-ALD) is a genetic disease that affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disease often have progressive loss of the fatty covering (myelin) that surrounds the nerves in the brain and spinal cord. They may also have a shortage of certain hormones that is caused by damage to the outer layer of the adrenal glands (adrenal cortex). This is called adrenocortical insufficiency, or Addison disease. There are three forms of X-ALD: a childhood cerebral form, an adrenomyeloneuropathy (AMN) type, and an adrenal-insufficiency-only-type. The disease primarily affects males.
X-ALD is caused by a variation (mutation) in the ABCD1 gene and it is inherited in an X-linked. manner. Diagnosis of the disease is based on testing the levels of a molecule called very long-chain fatty acids (VLCFA). The diagnosis can be confirmed with genetic testing. There is still no cure for X-ALD, but taking special oils such as Lorenzo’s oil can lower the blood levels of VLCFA. Bone marrow transplantation may be an option for boys who have evidence of brain involvement on MRI, but do not yet have obvious symptoms of the disease with a normal neurological exam. Adrenocortical insufficiency is treated with corticosteroids.
X-ALD is caused by a variation (mutation) in the ABCD1 gene and it is inherited in an X-linked. manner. Diagnosis of the disease is based on testing the levels of a molecule called very long-chain fatty acids (VLCFA). The diagnosis can be confirmed with genetic testing. There is still no cure for X-ALD, but taking special oils such as Lorenzo’s oil can lower the blood levels of VLCFA. Bone marrow transplantation may be an option for boys who have evidence of brain involvement on MRI, but do not yet have obvious symptoms of the disease with a normal neurological exam. Adrenocortical insufficiency is treated with corticosteroids.