The Smith-Magenis Syndrome Patient Registry (SMSPR)
One of PRISMS most recent initiatives toward our long-standing aim of supporting research for Smith-Magenis Syndrome. The Smith-Magenis Syndrome Patient Registry is a collaboration between families and researchers that will work together to improve our understanding of SMS. Please see below for details on this initiative.
What is a registry?
A registry is a large database. It is used to collect and store large amounts of information. In our case, we will be using the registry to collect and store medically relevant information on individuals with Smith-Magenis Syndrome.
Learn more about PRISMS SMS Patient Registry
We will be collecting medically relevant information. This information will be important in helping us understand, more clearly, the natural history of Smith-Magenis Syndrome.
Listed below are some of the records we will be collecting:
- Genetic test results
- Sleep studies
- Magnetic Resonance Imaging (MRI) or Computerized Tomography (CT) scans
- Hearing tests
- Spine x-rays
- Photographs, videotapes and audiotapes
- Questionnaires regarding medical history, daily activities, sleep habits, and quality of life, among others
We expect to be collecting data over several years, without a specific end-point at this time. That means, ample time to think about and to decide on enrolling, as long as this study is still active!
This study is currently being conducted at the Baylor College of Medicine.
If you decide to participate in this study, you will be asked to provide the required medical documentation through an online data collection system called REDCap. You will be allowed to create a username and password which will direct you to create your own profile. From there, you will be allowed to complete online questionnaires and upload medical documents. REDCap will also allow you to save your work, so that you do not have to complete all the forms in one sitting!
During the initial phases of this registry, you may be contacted on several occasions regarding addition of new questionnaires or requests for medical information.
Currently, we will be collecting medical information and questionnaires on a yearly basis, but as we learn more about the condition through this study, we may introduce additional questionnaires, or ask you to provide additional medical records more frequently.
Research staff at the Baylor College of Medicine will have access to your identifiable data. Your data will not be sold to third parties. Additionally, your coded/de-identified samples may be shared with other researchers who are studying Smith-Magenis Syndrome.
Do you have more questions?
If you have more questions about the registry, enrollment process or to request more information, send the SMS patient registry staff an email by clicking on the “Contact Us” button below.
Are you ready to enroll?
If you are ready to enroll into the SMS patient registry, this can be done on the registry website. To start the online enrollment process click the “Enroll Now” button below.