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, fragile X-associated primary ovarian deficiency (FXPOI) 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 with a longitudinal follow up open label study, (3) initiate the Tetra study of BPN14470 that raises cAMP levels in FXS and studies of adolescent boys then adult males and then young children with FXS will take place. (4) open label sulforaphane in those with FXTAS. We will also finish up the longitudinal open label study of Trofinetide in Rett syndrome (Lilac 2) Staff includes specialists in molecular biology, pediatrics, genetics, psychology, and pathology.
Keyword(s):
Developmental Disabilities, Children, Adolescents, and Young Adults with Special Health Care Needs
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
