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Acid Sphingomyelinase Deficiency clinical trials

View clinical trials related to Acid Sphingomyelinase Deficiency.

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NCT ID: NCT04845958 Not yet recruiting - Clinical trials for Acid SphingoMyelinase Deficiency

A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen

Start date: April 2021
Study type: Observational

Primary Objective: To assess prevalence of Gaucher disease (GD) diagnosed in pediatric patients presenting with unexplained splenomegaly (SMG) after exclusion of first intention-diagnoses (e.g. portal hypertension, haematological malignancy, hemolytic anemia, infection) based on clinical examination and routine biological tests (full blood count, reticulocytes, liver tests, abdominal ultrasound, Coombs test and Epstein Barr virus serology). Secondary Objectives: - To describe the rate of each identified disease category and the rate of patients with no final diagnosis at the end of the study in pediatric patients with unexplained SMG after exclusion of first intention diagnoses - To describe the characteristics (clinical, lab, genetics) of all pediatric patients included in the study and to describe the characteristics subdivided by identified disease category and absence of final diagnosis at the end of the study

NCT ID: NCT00410566 Terminated - Clinical trials for Niemann-Pick Disease

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

Start date: December 2006
Phase: Phase 1
Study type: Interventional

The purpose of this study is to determine the safe range of single doses of rhASM administered to adults with ASM deficiency.