Human Genetics

Overview

For the Division of Human Genetics, the following studies are currently open:

Gaucher disease:

• Chaperone therapy in adult Gaucher disease patients previously treated with Cerezyme
• Chaperone therapy in adult treatment naïve Gaucher disease patients
• Enzyme replacement therapy with GA-GCB in pediatric and adult treatment naïve Gaucher disease patients
• Enzyme replacement therapy with GA-GCB in pediatric and andult Gaucher disease patients who are currently being treated with Cerezyme
• Biomarkers in Gaucher disease
• Gaucher Registry

Fabry disease:

• Fabry Registry

Pompe disease:

• Enzyme replacement therapy in Late-Onset Pompe Disease
• Myozyme Temporary Access Program (MTAP)
• Pompe Registry

Mucopolysaccharidosis type I (MPS I / Hurler, Hurler-Scheie, & Scheie syndromes):

• MPSI Registry

Mucopolysaccharidosis type II (MPS II / Hunter syndrome):

• Hunter Outcome Survey (HOS)

Neurofibromatosis:

• Spinal Abnormalities in NF1
• Tibial Dysplasia in NF1

Connective Tissue Disorders:

• Genetic Studies of Connective Tissue Disorders
• Atenolol versus Losartan in Marfan Syndrome

Muscular Dystrophy:

• Newborn Screening for Muscular Dystrophy