Do you need help completing your PURA Patient Registry? We are excited to announce that we are now offering confidential, one-on-one appointments with our research nurse, Tessy or PURA Aunt and Retired Nurse, Lyn. They can offer assistance with navigating the modules and can help answer questions as you complete the Patient Registry.
Prior to setting up your appointment, you will need to enroll your family member by following the “How do I enroll my family member?” instructions below. Once your account is set up, you can look through the checklist of information you will need to complete the registry (link is below), gather your information and set up a meeting with Tessy or Lyn at your convenience!
What is a Patient Registry and why is a Registry important?
In rare syndromes and diseases, it is often difficult for researchers or clinicians to see enough individual cases to understand the spectrum of the disorder or define successful treatments. It is through coming together and building this broader understanding and common data set that we will enable researchers focus research on the most impactful effects of PURA syndrome, and also attract new researchers to our cause.
The objectives of the PURA syndrome patient registry and longitudinal natural history study are:
- To characterize the full spectrum of disease in PURA syndrome and the long-term prognosis, as this may assist in improved care for patients and development of treatment strategies for patients with PURA syndrome.
- To determine possible connections between disease-causing variants in PURA and the specific findings in the participant. This may help us predict what to expect and provide more tailored advice and care.
- To identify major quality of life issues and identify common care needs, in order to improve management of people with PURA syndrome and to guide future research to answer questions most relevant for people and families affected by the condition.
- To create a secure database of observational data to facilitate further research into PURA Syndrome.
- To promote further PURA- specific research involvement.
How do I enroll my family member?
To enroll, email the study team at [email protected] with your contact name and email address, the PURA study participants name, date of birth (DD/MM/YY), and country of residence. Once enrolled, you will receive an email from ALEA Mail Service with your account login information and a user guide giving detailed instructions.
Where do I learn more?
To learn more about the PURA Syndrome Registry and Longitudinal Natural History study, please visit: https://www.purasyndrome.org/
What languages are available?
At this time, the study questionnaires and database are available only in English. However, the PURA Syndrome Foundation will be working to offer additional language support in the future. If you require an alternate language to participate, please email families@pura-syndrome.
We encourage all patients diagnosed with PURA syndrome to participate! Creating a strong registry of patients will broaden our ability to understand the full spectrum of PURA Syndrome, characterize its impact on patients throughout their life, and ultimately focus areas of research that will be most beneficial and impactful to our loved ones. Thank you for your time and efforts!