Using MRI to detect liver issues in patients with Acid Sphingomyelinase Deficiency
Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency
This study is testing if special MRI scans can help find early liver problems in adults with Acid Sphingomyelinase Deficiency compared to healthy people.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 34 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) Academic / other |
| Locations | 1 site (Amsterdam, Noord-Holland) |
| Trial ID | NCT05904366 on ClinicalTrials.gov |
What this trial studies
This study aims to evaluate the effectiveness of MRI techniques, specifically Magnetic Resonance Spectroscopy (MRS) and Magnetic Resonance Elastography (MRE), in identifying early stages of lipid accumulation in the liver of patients with Acid Sphingomyelinase Deficiency (ASMD) compared to healthy individuals. Participants will undergo MRI scans to measure liver steatosis and stiffness, which may help in identifying patients at risk for complications related to ASMD. The study will include adult ASMD patients visiting the outpatient clinic and healthy controls, with a focus on comparing their MRI results. This cross-sectional pilot study will provide insights into the potential of MRI as a diagnostic tool for ASMD.
Who should consider this trial
Good fit: Ideal candidates for this study are adult patients with biochemically proven Acid Sphingomyelinase Deficiency, preferably genetically confirmed.
Not a fit: Patients who are unable to undergo MRI procedures or adhere to the study protocol may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to earlier detection of liver complications in ASMD patients, allowing for timely intervention and improved patient outcomes.
How similar studies have performed: While the use of MRI techniques in liver assessment is established, this specific application in ASMD is novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 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 Exclusion Criteria: Patients and healthy controls: * Inability to adhere to the study protocol * Inability to undergo an MRI procedure
Where this trial is running
Amsterdam, Noord-Holland
- Amsterdam UMC — Amsterdam, Noord-Holland, Netherlands (Recruiting)
Study contacts
- Principal investigator: Carla EM Hollak, prof dr — Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
- Study coordinator: Eline CB Eskes, MD
- Email: e.c.eskes@amsterdamumc.nl
- Phone: 0205669111
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.