Last Updated: Monday, November 18, 2013
Principal Investigator: John Phillips III, M.D.
Lysosomal enzymes help get rid of unwanted materials in your cells. If you have been diagnosed with mucopolysaccharide storage disorder type 1 (MPS-1), Gaucher, Fabry, or Pompe disease you can be in this registry. We want to make a registry that will let doctors study questions about lysosomal storage diseases.
There are 4 registries for lysosomal storage diseases: the MPSI registry, the Gaucher registry, the Fabry registry, and the Pompe registry. The Genzyme Registries are open to all people with these diseases, regardless of whether you are receiving treatment and regardless of the type of treatment. The Genzyme Registries are sponsored and administered by Genzyme Corporation, a Sanofi company.
What is Involved in Participation?
You will undergo clinical assessments and receive medical treatment as determined to be appropriate for you by you and your doctor. Information collected during these clinical assessments and medical treatments will then be submitted to the LSD Registry in a secure electronic database that does not include any personal identifying information.
You will not be required to undergo any additional tests or procedures in order to participate in this LSD Registry.
You will be asked to complete one or more questionnaires about living with your disease and/or pain associated with your disease.
Anyone diagnosed with mucopolysaccharide storage disorder type 1 (MPS-1), Gaucher, Fabry, or Pompe disease
No payment will be offered to you for participation in the registry.
NO extra doctor visits outside of scheduled clinic visits.
To be notified when you are a possible match for a research study looking for participants, register with Vanderbilt's ResearchMatch at the link below.
ResearchMatch.org is a free and safe national website
that matches research volunteers with researchers looking for participants. Registries for Autism and Intellectual Disabilities are now
available on ResearchMatch. Everyone is welcome to join, regardless of age, or condition.
Visit www.researchmatch.org to learn more and to join today.