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 This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

New Drug Application (NDA) Process

For decades, the regulation andcontrol of new drugs in the United States has been based on the NewDrug Application (NDA). Since 1938, every new drug or therapy has beenthe subject of an approved NDA before US commercialization. The NDAapplication is the vehicle through which drug sponsors, such as biotechand pharmaceutical companies, formally propose that the FDA approve anew pharmaceutical for sale and marketing in the US. The data gatheredduring the animal studies and human clinical trials of anInvestigational New Drug (IND) become part of the NDA. More...

Treatment options for Patients with MPS II and MPS III: How do Families Make the Choices

Read a brief synopsis of this study conducted by Amanda Padro, MS. The complete study results can be obtained from the Society's office.