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MR Spectroscopy and Disease Severity Score for Gaucher in Pediatric Population (MRS in Gaucher)

This study has been completed.
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Children's Hospital of Philadelphia Identifier:
First received: June 13, 2011
Last updated: February 3, 2015
Last verified: February 2015
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 Type: Observational
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

Resource links provided by NLM:

Further study details as provided by Children's Hospital of Philadelphia:

Primary Outcome Measures:
  • 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 Outcome Measures:
  • 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).

Enrollment: 24
Study Start Date: July 2011
Study Completion Date: December 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.
Healthy volunteers
We will enroll 15 age and gender matched controls.

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.


Ages Eligible for Study:   5 Years to 20 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
We will enroll patients with a Diagnosis of Gaucher disease. Subjects will be between 5 and 20 years of age. We will recruit an equal number of age and gender matched healthy volunteers.

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01397435

United States, Pennsylvania
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Sponsors and Collaborators
Children's Hospital of Philadelphia
Genzyme, a Sanofi Company
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
  More Information


Responsible Party: Children's Hospital of Philadelphia Identifier: NCT01397435     History of Changes
Other Study ID Numbers: 11-008013
Study First Received: June 13, 2011
Last Updated: February 3, 2015

Keywords provided by Children's Hospital of Philadelphia:
Lysosomal diseases
Magnetic resonance Spectroscopy
MRI processed this record on April 21, 2017