Current SMS Research

imgCurResearch1One of the core values of PRISMS mission is to "foster partnerships with professionals" through collaboration between parents and professionals. PRISMS supports the following new research studies, and would like to extend these opportunities to families, (and teachers), to participate in this research. We hope that you will consider being a part of this valuable research and thus contribute to its results.

For more information on additional research activities, please click here.

In line with the core mission to "foster partnerships", PRISMS has developed a collaboration with the SMS Research Foundation (SMSRF). PRISMS and SMSRF support and advocate for the shared goal of enriching the lives of persons with Smith-Magenis Syndrome.  PRISMS and SMSRF have agreed to a collaboration which will provide a concentrated effort to further expand the study and research of SMS; while maintaining a variety of supported programs which are specific to the two organizations.

ACTIVE RESEARCH STUDIES

YaleSchoolofMedicineLogoMany SMS patients experience frequent infections but the immunological basis for this phenomenon is currently unclear. At Yale University Dr. Neil Romberg is studying the immune systems of patients with SMS to: 1) describe what infections are most common, 2) detail if there is laboratory evidence of immune deficiency, and 3) explore how deletions of 17p11.2 may predispose SMS patients to infections.

If you would like to participate in research studies, please contact Dr. Romberg via email ( This e-mail address is being protected from spambots. You need JavaScript enabled to view it. ). If you are interested in making an appointment with Dr. Romberg for a clinical immunological evaluation you may choose to schedule it directly at 203-785-4081.


Baylor College of MedicineProjects in Dr. Sarah Elsea's lab are primarily focused on the function and characterization of the RAI1 gene. Studies in Dr. Elsea's lab led to the identification of the RAI1 gene as the primary culprit in SMS. Mutation or deletion of this gene can lead to Smith-Magenis Syndrome. All persons with SMS-associated 17p11.2 deletions have a deletion of this gene. The precise function of the RAI1 protein is not yet clear. Studies in the lab are focused toward determining the normal function of this protein in development and behavior by using cellular and animal (mouse and zebrafish) model systems to evaluate protein function.

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. Information about ongoing research studies will be posted to the PRISMS website. For more information, contact Dr. Elsea via email at This e-mail address is being protected from spambots. You need JavaScript enabled to view it. .


NHGRI LogoDHHS NIH NHGRI Logo

Phase 1 Treatment Trial of Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS) at NIH

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 (SMS). Sponsored by the National Human Genome Research Institute’s Division of Intramural Research (NHGRI-DIR) at NIH, the phase 1 treatment trial (protocol 07-HG-0076) is conducted by the interdisciplinary SMS Research Team led by adjunct principal investigator Ann C.M. Smith, MA, DSc (Hon), NHGRI and co-investigators Wallace Duncan, PhD, NIMH, Wendy Introne, MD, NHGRI Medical Responsible physician, and William Gahl, MD, PhD, NHGRI principal investigator. Five children with SMS have completed the bright light part of the trial; recruitment of an additional 10 children with SMS are sought to complete this portion of the trial. [See www.clinicaltrials.gov NCT00506259].

Children with a confirmed SMS diagnosis (del 17p11.2) who are between 5-16 years of age, have not reached puberty, and are seizure free may be eligible to participate in the study. Since certain medications may exclude individuals from participation, a telephone screen to review your child's medications (both prescribed and over-the-counter) will be conducted as part of the eligibility review. Partial funding is available to offset travel costs to/from NIH (based on standard government rates).

The bright light trial includes the pre-trial Home Assessment of Sleep (HAS) with actigraphy for 4 weeks, followed by a 4-day (3 nights) NIH inpatient admission with serial blood sampling and EEG-monitoring conducted during the trial period.

Parents interested in learning more about this treatment study should contact:

Ann C.M. Smith, MA, DSc (Hon), Adjunct Principal Investigator
Office of Clinical Director, National Human Genome Research Institute, NIH
Bldg 10, Room 10C103, 10 Center Drive, MSC 1851
Bethesda, MD 20892-1851
301-435-5475
Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it.

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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. Ann C.M. Smith, MA, DSc (Hon), co-discoverer of the syndrome, serves at the adjunct principal investigator of the NIH research protocol entitled, "Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS)" (01-HG-0109) that began in 2001. The primary goal of the NIH SMS research study is to gain a better understanding of the range and type of medical problems that occur in SMS and how they change over time. The SMS natural history study also has a special focus on defining the underlying speech, language, neurobehavioral aspects of the syndrome. The Home Assessment of Sleep (SMS-HAS) uses multiple non-invasive measures including actigraphy (Actiwatch) in the home setting, to more objectively study the sleep-wake cycle in individuals with SMS. Unaffected siblings may also participate as controls for the HAS. In addition to the clinical aspects, the NIH research includes a basic science component to study the SMS deletion interval of 17p11.2. To this end, a SMS Research Registry and Tissue Bank has been established at the National Human Genome Research Institute at NIH. The SMS Tissue Bank permits ongoing and future collaborative studies to elucidate the gene(s) and mechanism(s) underlying SMS. [See www.clinicaltrials.gov NCT00013559].

Enrollment in the SMS natural history study may occur during an NIH visit or offsite, in the home setting, to permit participation in those aspects of the study that do not require travel to NIH.

Parents interested in learning more about this treatment study should contact:

Ann C.M. Smith, MA, DSc (Hon), Adjunct Principal Investigator
Office of Clinical Director, National Human Genome Research Institute, NIH
Bldg 10, Room 10C103, 10 Center Drive, MSC 1851
Bethesda, MD 20892-1851
301-435-5475
Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it.