Mucopolysaccharidosis Type Iv

Watchlist

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

GALNS, GLB1, RMRP, COL2A1, COMP, TRPV4, GOLGB1, CRTAP, SHOX, TAPT1, GNPTG, P3H1, FKBP14, TRAPPC2B, SPAM1, SLC13A1, ACAN, TRAPPC2, RPL10, ARSB, NEK1, IDS, HYAL1, FLNB, FGFR3, SLC26A2, COL10A1, PLF

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Elosulfase alfa ( VIMIZIM ), N-terminal hexaglutamine-tagged recombinant human N-acetylgalactosamine-6-sulfate sulfatase, adeno-associated virus serotype 9 vector containing human n-acetylgalactosamine-6-sulfate sulfatase gene, 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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Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare metabolic condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans. As a result, toxic levels of these sugars accumulate in cell structures called lysosomes, leading to the various signs and symptoms associated with the condition. Affected people generally develop features of MPS IV between the ages of 1 and 3. These signs and symptoms may include abnormalities of the skeleton, eyes, heart and respiratory system. There are two forms of MPS IV:

MPS IVA is caused by changes (mutations) in the GALNS gene.
syndrome-b" target="_blank">MPS IVB is caused by mutations in the GLB1 gene.

Both forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.