MRS in Gaucher: MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
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 Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Gaucher We will enroll 15 children who have a confirmed diagnosis of Gaucher disease. |
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| Healthy volunteers We will enroll 15 age and gender matched controls. |
Outcome Measures
Primary Outcome Measures
- Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls. [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 Outcome Measures
- Difference in the semiquantitative MRI scores between affected subjects and controls [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).
Eligibility Criteria
Criteria
Inclusion Criteria:
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Confirmed diagnosis of Gaucher disease / age and gender match control
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Children aged 5-20 yrs
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Parental consent
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Child assent if appropriate
Exclusion Criteria:
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Presence of medical illness or exposure to drugs that alter the appearance of bone marrow on MRI
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Contraindication for MRI
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Likelihood for claustrophobia
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Non cooperative patient
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Pregnancy
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | The Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | United States | 19104 |
Sponsors and Collaborators
- Children's Hospital of Philadelphia
- Genzyme, a Sanofi Company
Investigators
- 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
Study Documents (Full-Text)
None provided.More Information
Publications
- Baldellou A, Andria G, Campbell PE, Charrow J, Cohen IJ, Grabowski GA, Harris CM, Kaplan P, McHugh K, Mengel E, Vellodi A. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004 Feb;163(2):67-75. Epub 2003 Dec 16. Review.
- Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ, Zimran A. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000 Oct 9;160(18):2835-43.
- Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006 Jun;160(6):603-8.
- Maas M, Hangartner T, Mariani G, McHugh K, Moore S, Grabowski GA, Kaplan P, Vellodi A, Yee J, Steinbach L. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8.
- Maas M, van Kuijk C, Stoker J, Hollak CE, Akkerman EM, Aerts JF, den Heeten GJ. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience. Radiology. 2003 Nov;229(2):554-61. Epub 2003 Oct 2.
- Roca M, Mota J, Alfonso P, Pocoví M, Giraldo P. S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol. 2007 Apr;62(1):132-7. Epub 2006 Dec 11.
- Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med. 2010 Jan;12(1):44-51. doi: 10.1097/GIM.0b013e3181c39194.
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