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ALLMedicine™ Acid Sphingomyelinase Deficiency Center

Research & Reviews  46 results

Similarities and differences between Gaucher disease and acid sphingomyelinase deficien...
https://doi.org/10.1016/j.ejim.2022.11.028
European Journal of Internal Medicine; Cappellini MD, Motta I et. al.

Nov 29th, 2022 - Lysosomal storage disorders are a group of inborn errors of metabolism due to defects in proteins crucial for lysosomal function. Gaucher disease is the most common autosomal recessive lysosomal storage disorder due to mutations in the GBA1 gene, ...

Alterations to Sphingomyelin Metabolism Affect Hemostasis and Thrombosis.
https://doi.org/10.1161/ATVBAHA.122.318443
Arteriosclerosis, Thrombosis, and Vascular Biology; Wang J, Keshava S et. al.

Nov 23rd, 2022 - Our recent studies suggest that sphingomyelin levels in the plasma membrane influence TF (tissue factor) procoagulant activity. The current study was performed to investigate how alterations to sphingomyelin metabolic pathway would affect TF proco...

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid...
https://doi.org/10.1186/s13023-022-02560-x
Orphanet Journal of Rare Diseases; Kubaski F, Burlina A et. al.

Nov 10th, 2022 - Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form ...

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644563
The American Journal of Case Reports; Kavčič A, Homan M et. al.

Nov 6th, 2022 - BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in the SMPD1 gene. Type A is the most severe phenotype of NPD, with early onset in infancy a...

Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)
https://clinicaltrials.gov/ct2/show/NCT04877132

Sep 19th, 2022 - The objective of this program is to provide access to enzyme replacement therapy (ERT) with olipudase alfa for certain patients with ASMD, a severe, life threatening disease, that could not participate in the olipudase clinical trials. The program...

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Drugs  1 results see all →

Clinicaltrials.gov  8 results

Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)
https://clinicaltrials.gov/ct2/show/NCT04877132

Sep 19th, 2022 - The objective of this program is to provide access to enzyme replacement therapy (ERT) with olipudase alfa for certain patients with ASMD, a severe, life threatening disease, that could not participate in the olipudase clinical trials. The program...

Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France
https://clinicaltrials.gov/ct2/show/NCT05359276

Jun 14th, 2022 - Approximate duration of enrollment: 18 months Total study duration: approximately 3 years This is a national, multicenter observational retrospective and prospective cohort data collection study. Retrospective is defined as collection of data from...

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
https://clinicaltrials.gov/ct2/show/NCT02004704

Jun 6th, 2022 - The maximum study duration per patient is 9 years or until olipudase alfa becomes commercially accessible (see maximum duration below), whichever comes first, unless the patient decides to enter another olipudase alfa clinical trial within the 9-y...

Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
https://clinicaltrials.gov/ct2/show/NCT02004691

May 24th, 2022 - The total duration per participant will be at least 3 years and up to 5 years and 3 months. This includes up to approximately two month of screening, 52 weeks of primary analysis period, up to 4 years and 3 months of extension treatment period, an...

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News  2 results

FDA OKs First Treatment for Acid Sphingomyelinase Deficiency
https://www.medpagetoday.com/genetics/generalgenetics/100491

Aug 31st, 2022 - The first disease-specific treatment for acid sphingomyelinase deficiency (ASMD) gained FDA approval on Wednesday, the agency announced. Olipudase alfa (Xenpozyme) is an IV infusion indicated for treating non-central nervous system manifestations ...

FDA grants breakthrough therapy designation to Genzyme's Olipudase Alfa
https://www.reuters.com/article/us-sanofi-fda/fda-grants-breakthrough-therapy-designation-to-genzymes-olipudase-alfa-idUSKBN0OK0CT20150604

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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