About 80 results

ALLMedicine™ Acid Sphingomyelinase Deficiency Center

Research & Reviews  28 results

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in...
Orphanet Journal of Rare Diseases; McGovern MM, Wasserstein MP et. al.

May 12th, 2021 - Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical f...

Interstitial lung disease in lysosomal storage disorders.
European Respiratory Review : an Official Journal of the ... Borie R, Crestani B et. al.

May 1st, 2021 - Lysosomes are intracellular organelles that are responsible for degrading and recycling macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases caused by mutations affecting genes that encode the function of the lysosom...

Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphin...
American Journal of Respiratory Cell and Molecular Biology; Poczobutt JM, Mikosz AM et. al.

Mar 5th, 2021 - Deficiency of ASM (acid sphingomyelinase) causes the lysosomal storage Niemann-Pick disease (NPD). Patients with NPD type B may develop progressive interstitial lung disease with frequent respiratory infections. Although several investigations usi...

Acid Sphingomyelinase Deficiency - GeneReviews® - NCBI Bookshelf

Feb 25th, 2021 - The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. Individuals with the severe early-onset form, infantile neurovisceral ASMD, were historically diagnosed with Niemann-Pick disease type A (NPD-A). The later-onset, c...

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Clinicaltrials.gov  3 results

Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency

Oct 11th, 2018 - The maximum study duration per patient is approximately 18 months (screening period: up to 60 days; treatment period: 64 weeks; post-treatment period: up to 37 days, not applicable if patient enrolls in a long term extension treatment trial).

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

Oct 9th, 2018 - The study duration is planned to be 9 years. This study is an extension study for patients who have completed a previous study with olipudase alfa (DFI13803 for pediatric patients and DFI13412 for adult patients).

Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

Mar 19th, 2015 - ASM deficiency (ASMD), also known as Niemann-Pick A and B disease, is a rare genetic disorder in which reduced activity of the lysosomal enzyme, ASM, leads to the accumulation of sphingomyelin primarily in macrophages throughout the body. This def...

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News  1 results

FDA grants breakthrough therapy designation to Genzyme's Olipudase Alfa

Jun 4th, 2015 - PARIS (Reuters) - Sanofi and its subsidiary Genzyme said on Thursday that the U.S. Food and Drug Administration (FDA) has granted breakthrough therapy designation to olipudase alfa. This enzyme replacement therapy is being investigated for the tre...

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