MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population (MRS in Gaucher)
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.
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|Official Title:||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|
- Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls. [ Time Frame: within 5 minutes ] [ Designated as safety issue: No ]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.
- Difference in the semiquantitative MRI scores between affected subjects and controls [ Time Frame: within 5 minutes ] [ Designated as safety issue: No ]We will compare the ordinal data obtained from applying two semiquantitative severity scores: Bone marrow burden (BMB) and Spanish MRI (S-MRI).
|Study Start Date:||July 2011|
|Estimated Study Completion Date:||May 2014|
|Primary Completion Date:||December 2013 (Final data collection date for primary outcome measure)|
We will enroll 15 children who have a confirmed diagnosis of Gaucher disease.
We will enroll 15 age and gender matched controls.
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.
|United States, Pennsylvania|
|The Children's Hospital of Philadelphia|
|Philadelphia, Pennsylvania, United States, 19104|
|Principal Investigator:||Diego Jaramillo, MD, MPH||Children's Hospital of Philadelphia|
|Study Chair:||Paige Kaplan, MBBCh||Children's Hospital of Philadelphia|
|Study Director:||Maria A Bedoya, MD||Children's Hospital of Philadelphia|