The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
Completed
NCT Number: NCT01397435
MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population
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.
Completed
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Notify MeKey information
Conditions
Age range
5 year–20 year
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: Yes
Only the study team can determine whether someone qualifies for participation.
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
Treatment and study plan
Primary outcomes
-
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.
Secondary outcomes
-
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).
Sponsors and collaborators
Lead sponsor
Children's Hospital of Philadelphia
Other
Collaborators
- Genzyme, a Sanofi Company
Registry information
Official study 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
Acronym: MRS in Gaucher
Important dates
- Study start
- 2011
- Primary completion
- 2013
- Study completion
- 2014
- First posted
- Jul 19, 2011
- Registry last updated
- Feb 4, 2015
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.