You can help advance Smith-Magenis Syndrome research by having your family or your individual with SMS participate in research studies.
See the list of active studies below to find out if there is a study that is right 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.
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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.
- Clinical Trial
- For Siblings
Connecting Siblings of Individuals with Smith-Magenis syndrome: A Sibling-to-Sibling Mentorship Program Dr. Rebecca Foster, PRISMS Professional Advisory Board (PAB) Member and licensed pediatric psychologist at St. Louis Children’s Hospital, is piloting an 8-week online SMS sibling mentorship program to explore the emotional and relationship benefits of connecting adolescent siblings of individuals with SMS with young […]
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 […]
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. […]
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 […]
Help us study teletherapy for SMS! Study Title: How Tele-health delivery of speech-language therapy differs from In-person therapy for individuals with Smith-Magenis Syndrome (SMS) What we are doing: The Smith-Magenis SLC Study is collecting information from parents, caregivers, or family members of children or adults with SMS to get a better understanding about how teletherapy […]
NIH is working with PRISMS to develop syndrome specific growth curves for SMS. Data gathered to date on 68 children with SMS show the following growth patterns. Most infants with SMS are born at term and have normal birth parameters for length, weight and head circumference. During the first year of life, Infants with SMS […]
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 […]
Rhythm Pharmaceuticals is currently recruiting for a Phase 2 clinical study of an investigational therapy to help reduce weight and hunger in individuals diagnosed with Smith-Magenis Syndrome and rare genetic diseases of obesity. The study is enrolling individuals: Age 6 years or older With a confirmed diagnosis of Smith-Magenis Syndrome With weight defined as BMI […]
Evaluating the Effects of Tasimelteon vs Placebo on Sleep Disturbances in SMS A new clinical study is investigating circadian rhythms and sleep disturbances in people with Smith-Magenis Syndrome to guide the development of a possible treatment. Your child or dependent may qualify if: they have Smith-Magenis Syndrome they have sleeping problems Qualified individuals will be […]
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.
Natera Microdeletion Study
The Natera team collected blood samples from parents and children with SMS as part of a study to develop a non-invasive prenatal screening test for microdeletions. Data collection was completed in the summer of 2019 and publications are in progress.
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).
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.