"Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare genetic disorder primarily affecting boys, caused by a deficiency in the enzyme needed to break down sugar molecules. This harmful buildup in cells and tissues impacts multiple body systems, causing frequent infections, organ enlargement and developmental disabilities. Management involves supportive care and enzyme replacement therapy, as there is currently no cure,"
"After a 24-week primary treatment period, followed by nearly three years of long-term follow-up, investigators found that the study participants had lower levels of heparan sulfate, the main harmful substrate that accumulates in MPS II. Cerebrospinal fluid concentrations reduced by 91 percent and urinary levels by 88 percent from baseline, according to the study. "We also noted that there was improvement in hearing; hearing loss is a common finding in the disease. All patients had an improvement in hearing,""
Mucopolysaccharidosis type II (MPS II) is a rare X-linked disorder primarily affecting boys caused by deficiency of an enzyme that breaks down sugar molecules, leading to substrate buildup across multiple organs. Two-thirds of affected children develop progressive brain involvement after two to three years of normal development, followed by developmental regression and neurodegeneration. Forty-seven males under 18 received weekly intravenous tividenofusp alfa engineered to cross the blood-brain barrier to target neurological and systemic disease. After a 24-week primary treatment period and nearly three years of follow-up, cerebrospinal heparan sulfate fell 91% and urinary levels fell 88% from baseline. All patients experienced improved hearing. Management historically relied on supportive care and enzyme replacement therapy, with no cure available.
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