If administered early, gene therapy has the potential to change the medical history of children born with metachromatic leukodystrophy (MLD), a rare and lethal neurodegenerative disease of genetic ...

This severe leukodystrophy, caused by galactosylceramidase (GALC) mutations, primarily affects infants and young children, causing symptoms such as irritability, feeding difficulties, seizures, muscle ...

WHEN Frankie struggled to sit upright like other toddlers, mum Amy Sheridan-Hill initially thought there was “nothing to ...

Gene therapy, if administered early, preserves motor and cognitive functions. Newborn screening is crucial but not yet widespread. The study is the result of 20 years of research at the San ...

All children with PSLI MLD who were treated with Lenmeldy were alive at 6 years of age, compared to only 58% of children in the natural history group. At 5 years of age, 71% of treated children were ...