Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ATRX, DAXX, ATR, IDH1, TP53, MGMT, SMARCA4, SMARCA2, TERT, SMARCA1, EGFR, MED12, MECP2, TERC, TH, ALK, PHOX2B, SRY, OLIG2, SIGMAR1, ARHGAP26, CIC, CD274, KDM3A, MAGT1, MBD2, PML, PTEN, MRE11, MEN1

ATRX, DAXX, ATR, IDH1, TP53, MGMT, SMARCA4, SMARCA2, TERT, SMARCA1, EGFR, MED12, MECP2, TERC, TH, ALK, PHOX2B, SRY, OLIG2, SIGMAR1, ARHGAP26, CIC, CD274, KDM3A, MAGT1, MBD2, PML, PTEN, MRE11, MEN1, IFNB1, IDH2, HIF1A, H3-3B, H3-3A, GFAP, MTOR, DSC3, CHGA, CDX2, CD34, LOC110806263

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, 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

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Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.