Childhood Degenerative & Metabolic Disorders News


Jan 10, 2019
Researchers identify a new leukodystrophy in children and its potential cure
The gene that causes the disease is called DEGS1 and its defect may be counteracted with fingolimod, a drug currently used to treat multiple sclerosis.
Jul 16, 2018
Fetal gene therapy prevents fatal neurodegenerative disease
A fatal neurodegenerative condition known as Gaucher disease can be prevented in mice following fetal gene therapy.
May 25, 2018
New treatment approved for phenylketonuria
Novel enzyme therapy is for adult patients with phenylketonuria who have uncontrolled blood phenylalanine concentrations on current treatment.
Dec 14, 2017
2-hydroxypropyl-beta-cyclodextrins and blood-brain barrier in Niemann-Pick Disease type C1
A new data review concludes that 2-hydroxypropyl-β-cyclodextrin (HPβCD) does not cross the blood-brain barrier in therapeutically relevant amounts to address the neurological manifestations of Niemann-Pick Disease Type C1.