PRISMS believes research leads to answers
A core pillar of PRISMS service for SMS families is “research” as we work to foster partnerships with professionals, sponsor research with a focus on positively impacting the lives of SMS families, and offer opportunities for you to get involved with moving the dial forward for our rare community! Note for researchers interested in soliciting PRISMS families to participate in active studies:
The SMS Patient Registry
One of PRISMS most recent initiatives toward our long-standing aim of supporting research of Smith-Magenis Syndrome, the SMS Patient Registry (SMSPR) is a collaboration between families and researchers that will work together to improve our understanding of SMS.
Coriell Institute Biobank
In the study of human genetic disorders, samples from patients and their families are a critical resource for researchers; however, it is often a major hurdle to identify families with specific chromosome abnormalities, like Smith-Magenis Syndrome. Thus many researchers rely on tissue and cell “banks” for access to samples from patients with a specific diagnosis.
PRISMS has teamed up with the Coriell Institute to create a “biobank” of blood and skin tissue samples. The Coriell Institute for Medical Research is an independent nonprofit research organization which houses the world’s largest collection of human cell lines. They maintain and distribute thousands of cell lines and DNA samples from individuals with diverse genetic disorders and make them available to researchers around the world for a nominal cost. Their collection is supported by grants from the National Institutes of Health (NIH) and several private foundations with specific support by the National Institute of General Medical Sciences (NIGMS).
Learn more about the cell repositories at Coriell here.
Families who want to participate in this research effort can contact the NIGMS Human Genetic Cell Repository via email at nigmsGC@coriell.org.
Families living outside of the United States are welcome to donate a sample to the repository. All interested in families will need to sign the Coriell consent forms in order to have their samples in the repository.
For your preview, you can download and view the following sample documents:
For additional information about donating blood and/or skin samples, please download and view the following documents:
While research of Smith-Magenis Syndrome is slowly moving forward on several fronts, there is a need for more expansive study of the neuroscience of SMS. This specific type of research is reliant on brain donation. Learn more.
Vanda’s SMS Patient Registry
Severe sleep disturbances are nearly universal in patients with Smith-Magenis Syndrome (SMS) and they present major challenges for those individuals and their families. Trials are currently underway to investigate SMS related sleep problems and potential therapies for treating these sleep disturbances. The Vanda Patient Registry is a tool that will help researchers better understand sleep related problems in people with SMS, identify and recruit patients who are eligible for participation in future clinical studies, and provide a forum for raising awareness and sharing information about SMS related sleep problems.
To sign up call 855-798-2632 or visit smsvandaregistry.com.
Building on the unique scientific expertise available at the National Institutes of Health (NIH), an inter-disciplinary SMS Research Team of clinical and basic science researchers was established in 2001…
Closed Research Studies
Data analysis is now being conducted on the research projects listed below. These projects are now closed and the finding will be reported on the PRISMS website.
SMS IEP Research Study at University of Colorado- Boulder
The SMS IEP Research Study team conducted research in the Department of Speech, Language, and Hearing Sciences at the University of Colorado- Boulder. The study aimed to gather and collect data from parents and IEPs in order to better understand what speech-language services, therapies, and treatments are being provided to children diagnosed with Smith-Magenis Syndrome (SMS) at various schools across the nation. Principal Investigator, Christine Brennan, PhD, CCC-SLP, firstname.lastname@example.org.
Natural History Study of Smith-Magenis Syndrome (SMS) at NIH:
Building on the unique scientific expertise available at the National Institutes of Health (NIH), an inter-disciplinary SMS Research Team of clinical and basic science researchers was established in 2001 to conduct pioneering, state-of-the-art research to further our understanding of this complex rare microdeletion syndrome. The primary goal of the NIH SMS research study was to gain a better understanding of the range and type of medical problems that occur in SMS and how they change over time. Adjunct Principal Investigator: Ann CM Smith, MA, DSc (Hon).
Phase 1 Treatment Trial of Circadian Sleep Disturbances in Smith-Magenis Syndrome (SMS)
In 2008, researchers at the National Institutes of Health (NIH) began active enrollment for the first controlled treatment trial to determine if bright light alone, or in combination with a melatonin tablet preparation, is effective in treating the sleep disturbance in children with Smith-Magenis Syndrome. Adjunct Principal Investigator: Ann CM Smith, MA, DSc (Hon).
Siblings of Children with Neurodevelopmental Disabilities:
An investigation of well-sibling intra-familial relationships. Goals: To examine well-sibling and parental perceptions of sibling relationships in families with at least one well-child and a child with SMS, Down, or Williams syndrome. This study involves the evaluation of social and psychological impacts of well-siblings of individuals with neurodevelopmental disabilities, including Smith-Magenis Syndrome, Williams Syndrome, or Down Syndrome. Principal Investigators: Melanie S. Moshier, Timothy P. York, and Sarah H. Elsea, PhD, Department of Human and Molecular Genetics and Department of Pediatrics Virginia Commonwealth University, Richmond, VA.