Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy

“…Despite encouraging results reported on two Hunter patients (Wang et al 2009), the CNS does not seem to benefit significantly from intravenous enzyme administration likely because the enzyme does not pass the blood-brain barrier (BBB) (Al Sawaf et al 2008). Even if our data are preliminary and based on few patients, neuroradiological features seem to respond poorly to the treatment since brain MRI features seem to worsen despite ERT introduction.…”

Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review

“…The same authors proposed, as possible mechanisms for the improvement of MR imaging features, the correction of CSF dynamics, the repair and reduction of GAG accumulation through the BBB, the suppression of inflammation, and finally the possible penetrance of the BBB from the administered enzyme, which reverses MR imaging features but not neurologic symptoms. 72 More researchers further supported the same notion because they demonstrated improvement of neuroradiologic features. 36 Nevertheless, other studies have shown a worsening of brain and spinal MR imaging findings despite ERT introduction, implying that neurologic MR imaging alterations, even at the level of structures without the BBB, are difficult to reverse once they have occurred.…”

“…Yet, limited data show that even the CNS seems to be improved after the administration of ERT. Wang et al 72 first showed that ERT can reverse or stabilize neuroimaging findings, and they raised important questions in relation to the efficacy of this treatment option on the CNS. The same authors proposed, as possible mechanisms for the improvement of MR imaging features, the correction of CSF dynamics, the repair and reduction of GAG accumulation through the BBB, the suppression of inflammation, and finally the possible penetrance of the BBB from the administered enzyme, which reverses MR imaging features but not neurologic symptoms.…”

Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II

“…These data showed that administration of IDS via intraventricular ERT is an efficient method to improve brain functions in the MPS II mouse. The results of intraventricular enzyme administration in MPS II mice might be able to offer treatment methods for other mucopolysaccharidosis (MPS I) and also for many other LSD (Gaucher disease, Krabbe disease or metachromatic leukodystrophy) that exhibit neurologic symptoms [28][29][30][31].…”