Ignite Creation Date:
2024-05-06 @ 7:08 PM
Last Modification Date:
2024-10-26 @ 3:01 PM
Study NCT ID:
NCT05904366
Status:
RECRUITING
Last Update Posted:
2023-06-15
First Post:
2023-06-06
Brief Title:
Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency
Sponsor:
Eline C B Eskes
Organization:
Academisch Medisch Centrum - Universiteit van Amsterdam AMC-UvA
Study Overview
Official Title:
Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency
Status:
RECRUITING
Status Verified Date:
2023-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
MONACO
Brief Summary:
The goal of this study is to assess the ability of MRI techniques to detect early stages of lipid accumulation in the liver of ASMD patients with the chronic visceral subtype compared to healthy subjects
Participants will undergo an MRI with MR Spectroscopy MRS to measure lipid accumulation steatosis and MR Elastography MRE to measure liver stiffness fibrosis
Participants will undergo an MRI with MR Spectroscopy MRS to measure lipid accumulation steatosis and MR Elastography MRE to measure liver stiffness fibrosis
Detailed Description:
Rationale Acid sphingomyelinase deficiency ASMD is a rare lysosomal storage disorder caused by a deficiency of sphingomyelinase resulting in accumulation of the sphingolipid sphingomyelin SM in the liver spleen and lungs Accumulation of SM in the liver leads to liver fibrosis in a subset of ASMD patients Enzyme replacement therapy ERT olipudase alfa Sanofi Genzyme is currently investigated in a phase 23 trial and recently received market authorization by the EMA and FDA As ASMD is a slowly progressive disease detection of early stages of SM storage in the liver might aid in identifying patients at risk for major complications who would benefit from therapy Two magnetic resonance MR based techniques might be of interest MR Spectroscopy MRS to measure lipid accumulation steatosis and MR Elastography MRE to measure liver stiffness fibrosis
Objective To assess the ability of MRI techniques to detect early stages of lipid accumulation in the liver of ASMD patients with the chronic visceral subtype compared to healthy subjects
Study design Cross-sectional pilot study in which MRS and MRE measurements of ASMD patients will be compared to measurements in healthy subjects All ASMD patients who participate will undergo an MRI during their yearly assessments Patients eligible for therapy will also undergo an MRI after one year of treatment
Study population All adult patients with ASMD visiting the outpatient clinic for metabolic disorders of the Amsterdam UMC will be invited to participate Participating ASMD patients will be matched to healthy controls based on age sex and BMI in a ratio of 11
Main study endpoint Fat fraction in volume percentage of liver tissue of ASMD patients measured with MRS compared to values of healthy subjects
Nature and extent of the burden and risks associated with participation benefit and group relatedness The MRI procedure yields no risk at most patients might feel uncomfortable lying in the tight space Patients and healthy subjects will not directly benefit from participation in the study The results of the study may improve clinical care in the future
Objective To assess the ability of MRI techniques to detect early stages of lipid accumulation in the liver of ASMD patients with the chronic visceral subtype compared to healthy subjects
Study design Cross-sectional pilot study in which MRS and MRE measurements of ASMD patients will be compared to measurements in healthy subjects All ASMD patients who participate will undergo an MRI during their yearly assessments Patients eligible for therapy will also undergo an MRI after one year of treatment
Study population All adult patients with ASMD visiting the outpatient clinic for metabolic disorders of the Amsterdam UMC will be invited to participate Participating ASMD patients will be matched to healthy controls based on age sex and BMI in a ratio of 11
Main study endpoint Fat fraction in volume percentage of liver tissue of ASMD patients measured with MRS compared to values of healthy subjects
Nature and extent of the burden and risks associated with participation benefit and group relatedness The MRI procedure yields no risk at most patients might feel uncomfortable lying in the tight space Patients and healthy subjects will not directly benefit from participation in the study The results of the study may improve clinical care in the future
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None