UnknownNot Applicable

Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency

Netherlands34 participantsStarted 2023-05-05

Plain-language 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).

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Fat fraction in volume percentage measured with MRS-PDFF

Timeframe: 1 year

Trial details

NCT IDNCT05904366

SponsorEline C. B. Eskes

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2024-04-01

Contact for this trial

Eline CB Eskes, MD

0205669111 e.c.eskes@amsterdamumc.nl

View on ClinicalTrials.gov More Asmd, Visceral Type trials