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. 

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.

Learn more about the Patient Registry

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  • Clinical Trial
  • Samples
  • Survey

CombinedBrain Biorepository Enrollment

Interested in participating in research? CombinedBrain is traveling to a conference near you! COMBINEDBrain Biorepository is enrolling Smith-Magenis Syndrome participants at conferences across the US and home collections are also available! Principal investigator: PRISMS in partnership with COMBINEDBrain About the study: COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups for rare, genetic […]

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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 info graphic below […]

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Vanda Patient Registry

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 […]

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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. […]

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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 […]

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Growth Patterns in SMS

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 […]

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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 […]

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Setmelanotide Obesity Study

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 […]

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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.