Gaucher Disease Type 1, Gaucher Disease Type 3
Conditions
Brief summary
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.
Interventions
Enzyme replacement therapy
Sponsors
Texas Scottish Rite Hospital for Children
Baylor Research Institute
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to 14 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | 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
| Measure | 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. |
Countries
United States
Outcome results
None listed