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

Children's Hospital of Philadelphia (CHOP)

Status: Completed

Conditions: Gaucher

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT01397435

11-008013

Details and patient eligibility

About

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.

Full 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.

Enrollment: 24 patients

Sex: All

Ages: 5 to 20 years old

Volunteers: Accepts 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

Trial design

24 participants in 2 patient groups

Gaucher

Description:

We will enroll 15 children who have a confirmed diagnosis of Gaucher disease.

Healthy volunteers

Description:

We will enroll 15 age and gender matched controls.