MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01397435

Acronym

MRS in Gaucher

Enrollment

Registered

2011-07-19

Start date

2011-07-31

Completion date

2014-12-31

Last updated

2015-02-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Gaucher

Keywords

Lysosomal diseases, Magnetic resonance Spectroscopy, MRI

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.

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to 20 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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).

Countries

United States

Outcome results