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.
What is a patient registry?
A patient registry is a large database that is used to collect and store information/data about individuals who share a certain disease or condition. In our case, we will be using the patient registry to collect and store medically relevant information on individuals with Smith-Magenis Syndrome.
Learn more about the SMS Patient Registry
The SMS Patient Registry is open for any individual with a genetic diagnosis of Smith-Magenis Syndrome. In many cases, it will be the parent or legal guardian of the individual with SMS providing the information for the registry. You will be asked to provide proof of genetic testing and legal guardianship in order to complete enrollment in the registry.
Consents and survey instruments are available in English, Spanish, French, Italian, and German.
A registry will allow us to track data over long periods of time. This can give us a better understanding of how the disorder progresses over time and what medical or psychosocial issues providers should be looking out for in children and adults with SMS.
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.
All information that we collect will be stored on a secure server 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 given a username and password. After logging in, you will be allowed to complete the online questionnaires and upload medical documents. REDCap allows you to save your work, so you do not have to complete all the forms in one sitting!
REDCap stands for Research Electronic Data Capture. It is a secure web application used for building and maintaining online surveys and databases. REDCap is the data collection tool that we have chosen for this registry. It is an application that you can access on your computer, tablet, or even your phone!
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.
We cannot do it without your help! Understanding the nature of SMS requires collecting information on large numbers of individuals. Every contribution matters and brings us closer to changing the lives of individuals with SMS!
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.