In 2017, a collaboration between Parents and Researchers Interested in Smith-Magenis syndrome (PRISMS) and Baylor College of Medicine was solidified to improve the understanding of SMS through the development of the Smith-Magenis Syndrome Patient Registry (SMSPR).
Individuals with SMS may enrol in the SMSPR at any time, sharing medical, genetic, educational, and developmental information that, taken together, can help to improve quality of life for persons with SMS and their families. Every person enrolled is given a study number, and all personal information gathered in the SMSPR is deidentified to all researchers such that names are not provided with any of the data. Researchers interested in collaborating in this project are encouraged to contact prisms.registry@bcm.edu .
The SMSPR collects and stores medically relevant information from individuals with SMS, enabling researchers to analyze this data and gain insight into the natural progression of SMS. For the SMSPR to be most productive and informative for research and for families to see benefit from the work being done, more individuals with SMS are needed to participate. The more individuals who participate in the SMSPR, along with the diversity of those individuals in terms of age, sex, and ethnicity, will enhance the applicability of what is learned; currently 110 individuals are enrolled. The majority of participants are from the United States, but 7 additional countries are also represented. All registry documents, such as consent forms and questionnaires, are available in Spanish, German, French, and Italian, as well as English.
Coming soon will be the ability to repeat surveys at standard time points, so changes that occur over time, as a person with SMS ages, can also be assessed. This will provide a longitudinal, life-long view of SMS. A key goal of the SMSPR is collection of data across the lifespan so that we develop a better understanding of SMS with age. With this knowledge, long-term planning can be more informed, and health-related concerns can be anticipated and possibly prevented in younger persons with SMS. For all of these reasons, we encourage all persons with SMS to enroll in the SMSPR-you’re never too young or too old to participate: https://www.prisms.org/research/sms-patient-registry/
RAI1 Smith-Magenis Syndrome