MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population (MRS in Gaucher)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01397435|
Recruitment Status : Completed
First Posted : July 19, 2011
Last Update Posted : February 4, 2015
|Condition or disease|
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.
|Study Type :||Observational|
|Actual Enrollment :||24 participants|
|Observational Model:||Case Control|
|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|
|Study Start Date :||July 2011|
|Actual Primary Completion Date :||December 2013|
|Actual Study Completion Date :||December 2014|
We will enroll 15 children who have a confirmed diagnosis of Gaucher disease.
We will enroll 15 age and gender matched controls.
- Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls. [ Time Frame: within 5 minutes ]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 ]We will compare the ordinal data obtained from applying two semiquantitative severity scores: Bone marrow burden (BMB) and Spanish MRI (S-MRI).
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01397435
|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|