A Genzyme Protocol for Acquisition of Blood Samples for Evaluation, Verification or Validation of Assays for Newborn Screening for Lysosomal Storage Disorders (LSDs)
The Emory University Division of Medical Genetics is seeking volunteers who have a diagnosis of one of the following lysosomal storage disorders: Pompe disease, Krabbe disease, Mucopolysaccharidosis type I (MPS I), Fabry disease (males only), Gaucher disease or Niemann-Pick A/B to participate in a research study The study consists of a consent and collection of a blood sample. The blood sample will be used to develop a lab test for testing babies shortly after birth to see if they have one of these disorders.
You can participate in this research if you have a definite diagnosis of Pompe disease, Krabbe disease, MPS I, Fabry disease (males only), Gaucher disease or Niemann-Pick A/B and are willing to have your blood drawn. You cannot participate if you are currently treated with enzyme replacement therapy, an experimental treatment for your lysosomal storage disease, or if you have ever had a bone marrow transplant.
For more information regarding this study please contact, Dawn, Sara or Karen at the Emory Lysosomal Storage Disease Center at 1-800-200-1524 or lsdc@genetics.emory.edu.
