Rett pic SAS

October is Rett Syndrome Awareness Month - View the SC Proclamation!

What is Rett Syndrome?

Through clinical care, research, and advocacy, the Rett Syndrome and Related Disorders Program of GGC's Center for Translational Research is dedicated to the benefit of all individuals and families impacted by these conditions.

GGC is a proud receipient of the Rettsyndrome.org designation as a Clinical Research Center of Excellence!

Clinical Care

Research

  • NIH-funded Rett Syndrome Natural History Study
  • Intervention studies
               Neuren Pharmaceuticals' trofinetide trial successes      
  • Outcome Measures - The CTR is actively developing outcome measures to quantify the success of future treatments including neaurobehavioral measures, molecular and biochemical markers, quality of life measures, and markers of neurobehavioral function using wearable technology.
  • Collaborations
              Clemson University - big data analysis and machine learning using data
                     from the Rett Natural History Study and development of wearable
                     technology to provide outcome measures
              Massachusetts Institute of Technology - blood-based marker and
                     wearable technology development
  • Rett syndrome-related publications from the Program (2015-17) (pdf)

Advocacy

  • Development of research agendas, white papers and health economics documents
  • Leadership on numerous key panels and committees (pdf)

Download our Rett program brochure (pdf)

 

Longitudinal Studies of the Glycoproteinoses

This project seeks to obtain clinical and laboratory information about individuals affected with a glycoprotein storage disorder including aspartyglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, beta-mannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis.

Angelman Syndrome Study

The purposes of this study are to gain a better understanding of the disease progression of Angelman syndrome, to follow the natural history of the clinical features of Angelman syndrome and to gain a better understanding of the clinical differences between the various genetic mechanisms of Angelman syndrome.

Official Study Website

Rare Disease Network

Rett Syndrome Study

The purposes of this study are to gain a better understanding of the disease progression of Rett syndrome and to follow the natural history of the clinical features of Rett syndrome.

Official Study Website

Rare Disease Network

Study Participation

Eligible participants include individuals from birth to 60 years who have had genetic testing and have a documented molecular diagnosis of Angelman syndrome OR patients with a clear clinical diagnosis of Angelman syndrome who do not have a known molecular defect.

For more information, see the Angelman syndrome study fact sheet or contact This email address is being protected from spambots. You need JavaScript enabled to view it. , study coordinator.