Whole-body MRI in Gaucher disease; monitoring disease activity, early detection of complications and treatment decision-making

Gaucher disease (GD) is a rare lysosomal storage disorder in which a deficiency
of the enzyme glucocerebrosidase leads to accumulation of its substrate
glucosylceramide. This substrate accumulates in macrophages and these
accumulated cells are mainly localized in spleen, liver and bone marrow,
causing a range of symptoms1,2. At present, monitoring of GD is performed with
the use of biochemical parameters and imaging of liver, spleen and bone marrow
density using magnetic resonance imaging (MRI). There is no method available to
assess the amount of accumulated cells in the entire body. A new approach in
this field is imaging of the amount of iron using whole body magnetic resonance
imaging (MRI). It is known that iron is an often seen component in Gauchercells
3-8 and therefore it is possible that iron could be used as a marker of
Gauchercells. Using a whole body MRI iron protocol it can be possible to gain
an improved insight in severity and extent of Gaucher disease.
We hypothesize that in patients with GD the whole body MRI iron measurements
are a useful tool in determining the distribution and total amount of
Gauchercells in the body and can be of use in monitoring disease activity,
early detection of complications and treatment decision-making.

The objective of the study is to investigate the applicability of the whole
body MRI protocol in Gaucher disease. To do so, we will investigate:
1. If whole-body MRI ironmeasurements represent the distribution and total
amoount of Gauchercells in the entire body.
2. The relation of these ironmeasurements with present day monitoring
parameters of Gaucher disease - biochemical and imaging.
3. If the ironmeasurements are of use in early detection of complications and
treatment decision-making in Gaucher disease.
4. If the distribution and severity of residual disease is related to the risk
of developing complications.

Case-control study

All participants undergo MRI-scanning and venous blood sampling at baseline, a
subgroup of the participants will undergo a second MRI scan. Present day,
MRI-scanning is already part of the follow-up of Gaucher patients. For this
study the current scanning technique needs to be extended for 30 minutes, total
scanning time is 90 minutes. Risks associated with the scanning and venous
blood sampling are negligible. The potential value of this research could be
the implementation of this new imaging technique in the monitoring protocol of
GD, to get a better insight in disease activity and early detection of
complications. It may also result in acquiring better knowledge concerning
treatment decision-making. This will be of direct benefit for the subjects
involved, as well as other Gaucher patients.