Project Description:
The Fragile X Research and Treatment Center, under the leadership of Randi Hagerman, M.D., performs clinical evaluation and treatment of patients with fragile X mutations including both the full mutation leading to Fragile X Syndrome (FXS) and the premutation which is associated with DD, Fragile X-associated Tremor Ataxia Syndrome (FXTAS) with aging, and Fragile X-associated Neuropsychiatric Disorders (FXAND). Over the next five years, research will focus on treatment including (1) a topical CBD ointment (Zyn002), (2) a multicenter controlled trial of metformin, (3) behavioral studies that examine a combination of medication and Parent Implemented Language Intervention (PILI) in children with FXS, and (4) sulforaphane in those with FXTAS. Recently they have begun to examine medication for women with Rett syndrome (Anavex 2-73 and Trofinetide). Staff includes specialists in molecular biology, pediatrics, genetics, psychiatry, psychology, neurology, neurobiology, pathology and social work.
Core Function(s):
Performing Research or Evaluation
Area of Emphasis
Health-Related Activities, Quality of Life, Other - Leadership
Target Audience:
Students/Trainees (long or intermediate trainees), Community Trainees / Short term trainees, Professionals and Para-Professionals, Family Members/Caregivers, Adults with Disabilities, Children/Adolescents with Disabilities/SHCN, Legislators/Policy Makers, General Public
Unserved or Under-served Populations:
Racial or Ethnic Minorities, Disadvantaged Circumstances, Limited English, Geographic Areas, Specific Groups
Primary Target Audience Geographic Descriptor:
Another State, Mulit-County, State, Regional, National, International
COVID-19 Related Data:
N/A
