The Smith-Magenis Syndrome Patient Registry (SMSPR)
A patient registry is a database used to collect and store information/data about individuals who share a certain disease or condition.
SMS is a rare disorder. While researchers and medical professionals have learned much about SMS since its discovery, there is still much more to learn. The SMSPR is a collaboration between PRISMS and researchers. Families, you can help move research forward by participating in the registry, which can lead to improved understanding and outcomes. Participation is a minimal time commitment and can provide extremely valuable information to researchers.
Frequently Asked Questions
The registry is open to any individual with a genetic diagnosis of Smith-Magenis Syndrome. In most 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 upload proof of genetic testing and parent/guardian identification (for a child under 18 years old) or document of legal guardianship (for a child over 18 years old) to enroll in the registry.
There is currently limited data on individuals with SMS. The registry allows us to gather more data and to track data over long periods of time. This can give a better understanding of how SMS progresses over time and what medical or psychosocial issues providers should be aware of in children and adults with SMS. It also gives a better understanding of the spectrum of differences in individuals with SMS. The data can be used for research that may result in improved treatments and outcomes.
Some of the information collected will/may be:
- Genetic test results (required)
- Questionnaires regarding medical history, development milestones, daily activities, sleep habits, and quality of life, among others
- Sleep studies
- Magnetic Resonance Imaging (MRI) or Computerized Tomography (CT) scans
- Hearing tests
- Spine x-rays
- Photographs, videotapes and audiotapes
Participation in the registry is encouraged whether you have many of these records or just a few. Any information improves the understanding of SMS.
We expect to be collecting data for several years. An end date has not been determined at this time.
All information collected will be stored on a secure server at Baylor College of Medicine. Baylor College of Medicine is part of the REDCap consortium. REDCap is a secure web application for building and managing online surveys and databases (i.e., registries).
If you decide to participate you will complete an initial registration including providing genetic testing and identification.
After registration you will be given a username and password to log in. You will then complete online questionnaires and may upload medical documents.
REDCap allows you to save your work, so you do not have to complete all the questionnaires 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 phone.
After the initial phase of registration and survey completion, we will be collecting medical information and questionnaires on a yearly basis. 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 Baylor College of Medicine will have access to your identifiable data. Additionally, your coded/de-identified samples may be shared with other researchers who are studying Smith-Magenis syndrome. Researchers must complete necessary requirements and receive approval to access the data in the registry.
The data you share will not be sold to third parties, and will only be used for research purposes.
The more data researchers have access to, the greater the understanding of SMS, which can lead to improved treatments and outcomes. To accomplish this, we need the participation of as many families as possible.
Every contribution matters and brings us closer to changing the lives of individuals with SMS!