MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

24 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-07-31

Study Completion Date

2014-12-31

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.

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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.

Conditions

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Gaucher

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Gaucher

We will enroll 15 children who have a confirmed diagnosis of Gaucher disease.

No interventions assigned to this group

Healthy volunteers

We will enroll 15 age and gender matched controls.

No interventions assigned to this group

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

Minimum Eligible Age

5 Years

Maximum Eligible Age

20 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes