PURA Syndrome Foundation Global Patient Registry

PURA Syndrome Longitudal Natural History Study

Working in collaboration with families, clinicians and researchers, this project proposes to collect clinical data on PURA syndrome, from affected patients globally throughout the course of their lives. This should enable researchers to define the full spectrum of the disorder, and also characterise the natural history (what happens across age and life) for PURA syndrome.

For information regarding this study, please click on the following links, download, and review the following documents:

If you have an interest in participating in this study please contact the study team at PURA@soton.ac.uk with your contact email and the

PURA study participants name, date of birth (DD/MM/YY), and country of residence.

The PURA Syndrome Foundation is a registered 501(c)(3) charity organization. Information on this website is not a substitute for personal medical advice. Families should consult a medically qualified physician in all matters relating to genetic diagnosis , management, and health . Information about PURA and genetics in general is a very fast moving area and while the information on this website is regarded as the best at the time of publication , some facts may change later .