#What enzyme def results in scids registration

Īcid sphingomyelinase deficiency (ASMD) (historically known as Niemann-Pick disease types A, B, A/B) is an inherited lysosomal storage disease characterized by deficient activity of the enzyme acid sphingomyelinase (ASM).

#What enzyme def results in scids registration

Trial registration NCT02004704 registered. Improvements in clinically relevant disease endpoints observed during the first year of treatment were maintained or augmented in the second year. Olipudase alfa was generally well-tolerated during 2 years of treatment. Mean height Z-scores improved in all age groups (mean change from baseline 1.17, P < 0.0001). Lipid profiles and elevated liver transaminase levels that improved or normalized by 1 year remained stable. Mean reductions from baseline in spleen and liver volumes were 61% and 49%, respectively ( p < 0.0001) and mean percent-predicted-DL CO increased by 46.6% ( p < 0.0001) in nine patients who performed the test at baseline. During year 2, one patient had two treatment-related serious events of hypersensitivity that resolved. No patient discontinued and no new safety issue arose during the second year of treatment 99% of adverse events were mild or moderate.

ResultsĪll 20 former ASCEND-Peds patients completed at least 2 years of olipudase alfa treatment. Efficacy endpoints include spleen and liver volumes, diffusing capacity of the lung for carbon monoxide (DL CO), high-resolution computed tomography (HRCT) lung imaging, lipid profiles, liver function tests, and height Z-scores. We report 2-year cumulative safety and efficacy data after olipudase alfa treatment in 20 children (four adolescents, nine children, and seven infants/early child ) with baseline splenomegaly and growth deficits who completed the 1-year ASCEND-Peds clinical trial (NCT02292654) and who continue to receive olipudase alfa in a long-term study (NCT02004704). Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD).