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. Identifier: NCT01397435
Recruitment Status : Completed
First Posted : July 19, 2011
Last Update Posted : February 4, 2015
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Children's Hospital of Philadelphia

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

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 Type : Observational
Actual Enrollment : 24 participants
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
Study Start Date : July 2011
Actual Primary Completion Date : December 2013
Actual Study Completion Date : December 2014

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Gaucher Disease
U.S. FDA Resources

We will enroll 15 children who have a confirmed diagnosis of Gaucher disease.
Healthy volunteers
We will enroll 15 age and gender matched controls.

Primary Outcome Measures :
  1. 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 :
  1. 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).

Information from the National Library of Medicine

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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

Information from the National Library of Medicine

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 identifier (NCT number): 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


Responsible Party: Children's Hospital of Philadelphia Identifier: NCT01397435     History of Changes
Other Study ID Numbers: 11-008013
First Posted: July 19, 2011    Key Record Dates
Last Update Posted: February 4, 2015
Last Verified: February 2015

Keywords provided by Children's Hospital of Philadelphia:
Lysosomal diseases
Magnetic resonance Spectroscopy