NGF Blog


Was your child recently diagnosed with Gaucher Disease?

Find out about a research study for children with Gaucher Disease

Why should my child take part?

In addition to contributing to medical research, all study participants will receive at no cost:

– Full general and neurological exams by an expert in Gaucher Disease
– Bone density evaluation of lumbar spine by DXA (dual energy X-ray absorptiometry)
– MRI (magnetic resonance imaging) of hip and leg bones as well as liver and spleen
– Blood tests for disease biomarkers

Children with neurological abnormalities of Gaucher Disease will also receive the following tests in addition to the above, also at no cost:

– Neurodevelopmental testing
– Eye movement exam
– Brainstem auditory evoked potentials

What is being studied?

The effect of velaglucerase alfa (Vpriv) enzyme replacement therapy on the skeletal development of children with Gaucher Disease will be studied. The study will also gather natural history on children with Gaucher Disease and any neurological involvement.

How do I know if my child is eligible to participate?

Your child is eligible to participate if he/she:

– has a confirmed diagnosis of Gaucher Disease
– has never had enzyme replacement therapy
– is currently between 4 and 14 years of age
– is able to travel to Dallas for a baseline visit followed by 3 annual visits
– is able to complete all study testing
– has a skeleton which is not yet fully formed
– is willing to receive Vpriv infusions every other week for 3 years

How long is the study?

Each child will participate for a total of 3 years.

Where will this study take place?

All participating children with Gaucher Disease will have study procedures done at Baylor University Medical Center and Children’s HealthSM Children’s Medical Center. Children with Gaucher Disease who have neurological problems will also have testing done at the Retina Foundation of the Southwest and Our Children’s House Dallas, part of Children’s HealthSM. All study procedures will take place in Dallas TX.

To learn more, please contact:

Raphael Schiffmann, M.D., Principal Investigator
Institute of Metabolic Disease
Baylor Research Institute

Mary Wallace

Caren Swift, RN

Institute of Metabolic Disease
Baylor Research Institute
Version 2
12 APR 2016

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