MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population

Completed

Conditions studied: Gaucher

In brief

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.

Key facts

Study ID

NCT01397435

Run by

Children's Hospital of Philadelphia

People needed

24

Starts

2011-07-01

Expected to finish

2014-12-01

Last updated by the study team

2015-02-04

Who can join

Age: 5 and older, up to 20. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Confirmed diagnosis of Gaucher disease / age and gender match control
• Children aged 5-20 yrs
• Parental consent
• Child assent if appropriate

You may not qualify if…

• 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

Where it is running

• The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States

Full record on ClinicalTrials.gov

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