acid sphingomyelinase deficiency Niemann-Pick disease
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
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
Exclusion criteria: ASMD patientes and healthy controls: - Inability to adhere to the study protocol - Inability to undergo an MRI procedure
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Fat fraction in volume percentage (%) measured with MRS of ASMD patients compared to values of healthy subjects. | — |
Secondary
| Measure | Time frame |
|---|---|
| - to assess whether MRS is able to specifically distinguish SM accumulation from lipid accumulation in liver tissue. - to assess the effect of therapy on the fat fraction and liver stiffness in the patients that are eligible to start treatment. - to identify patients with liver involvement of ASMD by assessing the correlation between the fat fraction and liver stiffness and markers of liver involvement of ASMD. - to assess the correlation of the fat fraction and liver stiffness with other biomarkers for ASMD. | — |
Countries
Netherlands
Outcome results
None listed