The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease

Study Overview
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Brief Summary
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The purpose of this trial is to study the effect of Velaglucerase Alfa on skeletal bone development of children with Type 1 or Type 3 Gaucher Disease. In addition, the natural history and neurological status of children with Type 3 Gaucher Disease will be studied.

Official Title
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The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease

Conditions
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Gaucher Disease Type 1, Gaucher Disease Type 3

Intervention / Treatment
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* Drug: Velaglucerase alfa


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Enzyme Replacement Therapy naive, confirmed diagnosis of Gaucher disease type 1 or 3, able to travel to Dallas, Texas 1x per year for baseline plus 3 consecutive years, able to tolerate all study procedures, skeleton not fully formed as confirmed by DXA and MRI), and willing to receive velaglucerase alfa infusions every other week for the duration of the study. Exclusion Criteria: Clinically unstable, taking or have taken bisphosphonates, Gaucher type 2, pregnant female, or deemed inappropriate for participation by the principal investigator.

Ages Eligible for Study
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Minimum Age: 4 Years
Maximum Age: 14 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Gaucher Type 1 or 3<br>Velaglucerase alfa IV 60 units/kg every other week for duration of the study. | Drug: Velaglucerase alfa<br>* Enzyme replacement therapy<br>* Other names: VPRIV;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in Z-scores from baseline in Skeletal Bone Mineral Density by Duel-energy X-ray absorptiometry (DXA) in children with Gaucher Disease type 1 and 3 receiving velaglucerase alfa. |  | Baseline pre-intervention and yearly thereafter for 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in degrees/second from baseline in saccadic eye movements in children with Gaucher type 3 receiving velaglucerase alfa. |  | Baseline pre intervention and yearly thereafter for 3 years | 
| Change from baseline neurodevelopmental testing normalized scores in children with Gaucher Disease type 3 receiving velaglucerase alfa. |  | Baseline pre intervention and yearly thereafter for 3 years | 
| Change from baseline brainstem auditory evoked potential results measured in microvolts in children with Gaucher Disease type 3 receiving velaglucerase alfa. |  | Baseline pre-intervention and yearly thereafter for 3 years | 
| Change from baseline EEG (electroencephalogram) results measured in Hertz in children with Gaucher Disease type 3 receiving velaglucerase alfa. |  | Baseline pre-intervention and yearly thereafter for 3 years. |