MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population

Study Overview
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Brief Summary
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The bone status in Gaucher disease is very difficult to monitor precisely in children. This is a major problem because lack of optimal treatment, especially enzyme replacement, may cause irreversible severe bone damage that will impact an affected person's life. Currently, there are qualitative (subjective) methods, such as Magnetic resonance Imaging (MRI), to gauge the response to treatment. A quantitative (objective) measurement of Gaucher cell presence and activity in bone marrow could help with more precise and accurate monitoring of bone marrow disease in patients both treated and not (yet) being treated with enzyme replacement. The investigators will evaluate the efficacy of Magnetic Resonance Spectroscopy (MRS) as a quantitative assessment of bone marrow involvement in Children with Gaucher, and examine how this result correlates with semiquantitative MRI scales and overall disease severity.

Detailed Description
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To quantify the amount of fat in the bone marrow of affected subjects and healthy controls the investigators will use Single voxel short, echo time(TE) proton spectroscopy. This MR Spectroscopy (MRS) will be conducted in the vertebral body of L5 and in the neck of the femur. To assess the qualitative scores and compare it to the quantitative MR Spectroscopy (MRS) results the investigators will use a series of Fluid sensitive and Fat sensitive conventional MR sequences that will allows us to determine indirectly the degree of glucocerebrosidase infiltration.

Official Title
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Quantification of Bone Marrow Involvement in Gaucher Disease With Proton MR Spectroscopy, Correlation With Bone Marrow Burden Score, Genotype and Disease Severity Score for Pediatric Patients

Conditions
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Gaucher

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Confirmed diagnosis of Gaucher disease / age and gender match control Children aged 5-20 yrs Parental consent Child assent if appropriate Exclusion Criteria: Presence of medical illness or exposure to drugs that alter the appearance of bone marrow on MRI Contraindication for MRI Likelihood for claustrophobia Non cooperative patient Pregnancy

Ages Eligible for Study
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Minimum Age: 5 Years
Maximum Age: 20 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Gaucher<br>We will enroll 15 children who have a confirmed diagnosis of Gaucher disease. | |
| Healthy volunteers<br>We will enroll 15 age and gender matched controls. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls. | We will measure the fat fraction only once, at the time of recruitment. We will compare the fat fraction of an affected subject to that of an age matched control. We will determine if significant difference exist. | within 5 minutes | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Difference in the semiquantitative MRI scores between affected subjects and controls | We will compare the ordinal data obtained from applying two semiquantitative severity scores: Bone marrow burden (BMB) and Spanish MRI (S-MRI). | within 5 minutes | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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MRI, Lysosomal diseases, Magnetic resonance Spectroscopy