Protocol 01-HG-0109: Natural History Study of the Clinical & Molecular Manifestations of Smith-Magenis Syndrome (SMS) - Camp Breakaway 2016

Smith-Magenis syndrome (SMS) is a rare (1/15,000) complex multisystem disorder most commonly caused by a small missing piece (deletion) of chromosome 17p11.2 that includes the RAI1 gene; however, in less than 10% of cases mutations in the RAI1 gene also account for the syndrome. The syndrome is not fully understood and includes many symptoms that impact growth, development and behavior. The purpose of our study is to learn how individuals with SMS and their families are affected by it and what gene(s) may be involved in causing the syndrome, with the hope of improving treatment for this condition in the future.

The 7th SMS Research Clinic will be held at Camp Breakaway, April 1st - 4th, 2016. Members of the SMS Research Team at the National Institutes of Health (NIH) led by Ann C.M. Smith, MA, D.Sc.(hon.), adjunct principal investigator and co-discoverer of the syndrome, have conducted previous SMS Research Clinics at Camp Breakaway (2003, 2006, 2008, 2010, 2012, 2014). Ann Smith returns to Camp Breakaway to conduct the SMS Research Clinic with able assistance from volunteers.

Families who consent to have their child participate in the SMS Research clinic will be enrolled on the SMS Natural History study protocol 01HG-0109. They will spend ~ 45 minutes face-to-face visit with Dr. Smith to complete the genetic history and examination. Volunteers will assist Dr. Smith with the WEIGHT and PHOTO stations during registration/check-in and/or on day of the clinic.

Final details for the research clinic are being coordinated with Camp Manager Jodie Davis and her staff at Camp Breakaway. Participation in the field clinic does not require you to travel to the National Institutes of Health (NIH).

The contact Liaison of the SMS clinic at Camp Breakaway is:

  • Jodie Davis, Camp Manager
  • Camp Breakaway, Inc.
  • 80 Highview Avenue, San Remo, NSW 2262
  • Tel: 4390 7624
  • FAX: 4399 1979
  • info@breakaway.org.au

To get started:

  • Navigate through the menu on your left to learn more about the study.
  • Log In the application and fill out questionnaires.

Please contact us if you have any questions or concerns.

  • Ann C.M. Smith, MA, DSc(hon)
  • SMS Research Team, Adjunct Principal Investigator
  • National Human Research Institute, NIH
  • 10 Center Drive, MSC 1851
  • 301-435-5475
  • acmsmith@mail.nih.gov