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Natural History Survey

ISMRD is developing a comprehensive Natural History Survey that will enable families to contribute to a better understanding of the progression and effects of Glycoprotein Storage Diseases. Because these diseases are so rare and, thus, little or no information is available about them, compiling information about the course of these diseases from infancy to adulthood is vital.

We envision this survey will compile data about every aspect of a patient's life that may have its root causes in his or her diagnosis. This would encompass not only physical and neurological information, but also social and behavioral milestones. The survey will be designed to be easily answered by laymen, with the assistance of a Primary Care Physician, Genetic Counselor or Geneticist in some instances. ISMRD's intention is that the information, which will be maintained to safegaurd privacy and confidentiality regarding personal information, will be formatted so that it can interface with other Lysosomal Disease natural history collections. In this way we will not only be contributing to a better understanding of our own family of diseases, but will enable a more thorough overview of all Lysosomal Diseases.

This survey will be available online for printing on your computer or can be mailed to your postal address if you prefer.

If you would like to know more about our Natural History Survey project,
please contact us and check back at our website for more details to come!