Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency

NCT05904366 | Unknown

• 1 other identifier: 2022.0444
• Study Type: interventional
• Target: 34
• Locations: 1 country
• Sites: 1

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).

Conditions

Asmd, Visceral Type

Outcome Measures

Primary Outcomes (1)

• Fat fraction in volume percentage measured with MRS-PDFF

  Fat fraction in volume percentage measured with MRS-PDFF of ASMD patients compared to age-, sex, and BMI-matched healthy subjects.

  1 year

Secondary Outcomes (3)

• Liver stiffness in kPa measured with MRE

  1 year

• Correlations between fat fraction and/or liver stiffness and liver parameters

  1 year

• Correlations between fat fraction and/or liver stiffness and general disease parameters

  1 year

Study Arms (2)

Patients

OTHER

Participants will undergo an MRI with MR Spectroscopy (MRS) and MR Elastography (MRE) measurements

Diagnostic Test: MR Spectroscopy (MRS); Diagnostic Test: MR Elastography (MRE)

Healthy controls

OTHER

Participants will undergo an MRI with MR Spectroscopy (MRS) and MR Elastography (MRE) measurements

Diagnostic Test: MR Spectroscopy (MRS); Diagnostic Test: MR Elastography (MRE)

Interventions

MR Spectroscopy (MRS) DIAGNOSTIC_TEST

MR Spectroscopy (MRS)

Healthy controls; Patients

MR Elastography (MRE) DIAGNOSTIC_TEST

MR Elastography (MRE) with a device that induces shear waves in the body. This device is placed upon the abdomen of the subject and is hold in place by straps. The device will produce low-frequency vibrations (e.g. 30-60 Hz) which are not painful to the participant. A declaration of conformity and a safety document are provided in the study dossier.

Healthy controls; Patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients:
• The patient has biochemically proven ASMD (preferably genetically confirmed)
• The patient is willing and able to provide written informed consent prior to the study-related procedure.
• The patient is ≥ 18 years of age
• Healthy controls:
• The individual is willing and able to provide written informed consent prior to the study-related procedure
• The individual is ≥ 18 years of age
• General good health as determined by medical history

You may not qualify if:

• Patients and healthy controls:
• Inability to adhere to the study protocol
• Inability to undergo an MRI procedure

Sponsors & Collaborators

• Eline C. B. Eskes: lead

Study Sites (1)

Amsterdam UMC

Amsterdam, North Holland, 1105 AZ, Netherlands

RECRUITING

MeSH Terms

Conditions

Niemann-Pick Disease, Type B

Condition Hierarchy (Ancestors)

Niemann-Pick Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Carla EM Hollak, prof dr

  Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

  PRINCIPAL INVESTIGATOR

• xx xx xx, xx

  STUDY DIRECTOR

Central Study Contacts

Eline CB Eskes, MD

CONTACT

0205669111; e.c.eskes@amsterdamumc.nl

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: MD

Model Details: Cross-sectional pilot study in which MRS and MRE measurements of ASMD patients will be compared to measurements in healthy subjects.

Study Record Dates

• First Submitted: June 6, 2023
• First Posted: June 15, 2023
• Study Start: May 5, 2023
• Primary Completion: April 1, 2024
• Study Completion: September 1, 2024
• Last Updated: June 15, 2023

Record last verified: 2023-06

Locations

NL (1)