Active Research
PRISMS support of research is a vital part of our mission and requires active participation from the SMS community. You can help advance Smith-Magenis syndrome research by participating in research either as a family member or on behalf of your loved one with SMS.
Below you will find a list of active research studies that you can view and decide if your participation is warranted for you and your family. PRISMS does not endorse any clinical trial or study – we provide this information to the SMS community for your own consideration.
To stay informed about the latest research updates, make sure to sign up for our email list.
If you are a researcher interested in recruiting individuals with SMS or their family members for your study, please fill out our Research Protocol Submission Form.
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.
Active Studies
Development of Caregiver Reported Outcome Measures for NDD
The purpose of this study is to develop and validate a disease-specific, observer-reported outcome measure for clinical trials of patients with the following Neurodevelopmental Disorders (NDDs): SYNGAP1 and RAI1 deficiencies (such as SMS), and Fragile X Syndrome. The study is being conducted in multiple phases. […]
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. […]
Dental Pulp Stem Cell Study
Extraction of Neuronal Stem Cells from Dental Pulp for Human Neurogenetic Disease Studies Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis is conducting a research study to understand defects in nerve cells grown from the dental pulp of people with various neurogenetic syndromes. These syndromes include disorders like Smith-Magenis […]
Research at Baylor
Smith-Magenis Syndrome is a genetic disorder most commonly caused by a deletion of chromosome 17p11.2, and less commonly by mutations in the RAI1 gene Ongoing projects in Dr. Sarah Elsea’s lab are focused on understanding the function of the RAI1 gene. Previous studies in Dr. Elsea’s lab led to the discovery that the RAI1 gene is responsible for most of the […]
Closed Research Studies
Data analysis is now being conducted on the research projects listed below. These projects are now closed and the findings will be reported on the PRISMS website. Click on the study to learn more.
SMS IEP RESEARCH STUDY AT UNIVERSITY OF COLORADO- BOULDER
NATURAL HISTORY STUDY OF SMITH-MAGENIS SYNDROME (SMS) AT NIH
The Brain Donor Project
PRISMS has partnered with the Brain Donor Project as a resource for families who wish to take steps towards brain donation.
The Brain Donor Project is an innovative national, non-profit organization that was developed to support the National Institutes of Health (NIH) in making available high quality, well-characterized brain tissue for neurologic researchers
Development of Caregiver Reported Outcome Measures for NDD
The purpose of this study is to develop and validate a disease-specific, observer-reported outcome measure for clinical trials of patients with the following Neurodevelopmental Disorders (NDDs): SYNGAP1 and RAI1 deficiencies (such as SMS), and Fragile X Syndrome. The study is being conducted in multiple phases.
For more information, please click on the button below to open an information sheet for this study and to learn more about how you can participate in this study.
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 and how you can participate below.
Families who want to participate in this research effort can contact the NIGMS Human Genetic Cell Repository via email at ni***@*****ll.org.
Families living outside of the United States are also 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:
Informed Consent Form
Assent Form
For additional information about donating blood and/or skin samples, please download and view the following documents:
Blood Donation
Tissue Donation
Dental Pulp Stem Cell Study
Extraction of Neuronal Stem Cells from Dental Pulp for Human Neurogenetic Disease Studies
Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis is conducting a research study to understand defects in nerve cells grown from the dental pulp of people with various neurogenetic syndromes. These syndromes include disorders like Smith-Magenis Syndrome.
Please click below to download more information about this study:
For more information on how to participate, please contact Dr. Reiter directly by e-mail: lr*****@***sc.edu.
Research at Baylor
Smith-Magenis Syndrome is a genetic disorder most commonly caused by a deletion of chromosome 17p11.2, and less commonly by mutations in the RAI1 gene.
Ongoing projects in Dr. Sarah Elsea’s lab are focused on understanding the function of the RAI1 gene. Previous studies in Dr. Elsea’s lab led to the discovery that the RAI1 gene is responsible for most of the symptoms of SMS. The precise function of the RAI1 gene, however, is not yet clear. Using cellular and animal (mouse and zebrafish) models, researchers in Dr. Elsea’s lab are working to better understand the role of RAI1 in development and behavior.
Other studies in Dr. Elsea’s lab are focused on analysis of sleep and eating behaviors in individuals with SMS, with a particular interest in obesity and growth-related problems, among others.
For more information, contact Dr. Elsea via email at sa*********@*cm.edu.
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.
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).
The Brain Donor Project
While research of Smith-Magenis syndrome is slowly moving forward on several fronts, there is a critical need for deeper exploration into the neuroscience of SMS. The impact of this specific type of research is immeasurable and may lead to more treatment options through better understanding of the syndrome.
How is this specific research accomplished? It is reliant on brain donation.
There is currently an urgent need for brain donation for a variety of neurological disorders, such as Smith-Magenis syndrome. Breakthroughs in neuroscience require this precious resource, for which there simply is no substitute.
While this is a very difficult and sensitive topic, it is imperative that families understand the need for brain donation and its importance in the future research of SMS. Brain donation occurs upon death, and pre-arrangements can be made to ensure that the family’s wishes are upheld and that the process is as easy as possible.
PRISMS has partnered with the Brain Donor Project as a resource for families who wish to take steps towards brain donation.
The Brain Donor Project is an innovative national, non-profit organization that was developed to support the National Institutes of Health (NIH) in making available high quality, well-characterized brain tissue for neurologic researchers. The focus is on raising awareness of the critical need for this valuable tissue and on simplifying the process of brain donation upon death. Since the NIH has identified this need, and created the NeuroBioBank to supply the tissue to researchers, the Brain Donor Project is eager to help people understand what is at stake.
The video below helps to explain how the Brain Donor Project works.
More has been learned about the human brain in the last 20 years than in all of recorded history, but there is so much yet to discover, especially when it comes to complex disorders like Smith-Magenis syndrome.
Your help is needed to push research forward.
You may not be aware that…
- Signing up to be an organ donor does not mean the brain is included. Separate arrangements must be made for brain donation.
- There is no additional cost to the family for brain donation when donating through the Brain Donor Project.
Starting the process is simple. Please go to braindonorproject.org to get answers to your questions about brain donation. When you’re ready to sign up, click on the “Sign Up” button at the top right and complete the online form. You may enroll for yourself, or on behalf of a loved one for whom you make decisions.
Thank you for considering this invaluable gift as a way to advance research for our SMS community. Together we are building a future of hope.