Welcome!
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome. It is sponsored by the 17q12 Foundation and hosted by the National Organization for Rare Disorders (NORD®) on their IAMRARE® platform. This registry will collect information from participants (or their authorized representatives) who are affected by chromosome 17q12 deletion or duplication syndrome.
What is a Patient Registry?
A patient registry is a collection of standardized information about a group of patients who share a condition. The information may be used for a variety of purposes such as conducting natural history studies and supporting disease-specific clinical trial recruitment. The 17q12 Patient Registry serves to:
- Support the design of clinical trials that explore new rare disease treatments;
- Describe the people who have chromosome 17q12 deletion or duplication syndrome and to better understand the variability and stages of chromosome 17q12 syndromes;
- Understand how chromosome 17q12 deletion and duplication syndromes change over a person’s lifetime;
- Learn about clinical practice patterns and variations over the course of treatment;
- Help to develop best practices, management guidelines, and recommendations so that clinicians can know how to give the best care to improve the quality of life and outcomes of people with chromosome 17q12 deletion or duplication syndrome; and
- Identify people with chromosome 17q12 deletion or duplication syndrome who might be willing to take part in other research studies or clinical trials. You will be able to choose whether you want to hear about these other studies.
What types of data will be collected in the 17q12 Patient Registry?
The 17q12 Patient Registry collects data on the following topics:
- Socio-demographics
- Medical history and diagnostics
- Treatment and disease progression
- Management of care
- Quality of life
Is the data secure?
The 17q12 Patient Registry follows strict government guidelines to assure patient information is protected. The platform is served over HTTPS, which means that the data is encrypted when being sent from the user’s browser to the NORD servers. The data is also kept encrypted in the NORD database. Communications between the registry platform application server and the database are also encrypted. As with any information one provides electronically, there is a very rare chance that privacy could be compromised. However, the registry and the security measures minimize the chance of this occurring.