Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency

Completed

Conditions: acid sphingomyelinase deficiency
Niemann-Pick disease
10021605

Registration Number: NL-OMON53399

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 34

Inclusion Criteria

Patients:
- The patient has biochemically proven ASMD (preferably genetically confirmed)
- The patient is >= 18 years of age
- The patient is willing and able to provide written informed consent prior to
the study-related procedure.

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

ASMD patientes and healthy controls:
- Inability to adhere to the study protocol
- Inability to undergo an MRI procedure

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Fat fraction in volume percentage (%) measured with MRS of ASMD patients<br /><br>compared to values of healthy subjects.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- to assess whether MRS is able to specifically distinguish SM accumulation<br /><br>from lipid accumulation in liver tissue.<br /><br>- to assess the effect of therapy on the fat fraction and liver stiffness in<br /><br>the patients that are eligible to start treatment.<br /><br>- to identify patients with liver involvement of ASMD by assessing the<br /><br>correlation between the fat fraction and liver stiffness and markers of liver<br /><br>involvement of ASMD.<br /><br>- to assess the correlation of the fat fraction and liver stiffness with other<br /><br>biomarkers for ASMD. </p><br>