Interpreting Clinical Trial Headlines and Announcements in Fragile X Syndrome — Presentation

Presented by Elizabeth Berry-Kravis, MD, PhD, and Craig A. Erickson, MD

This proposal is submitted on behalf of the NFXF Clinical Trials Committee. The committee will present examples of recent announcements and headlines focused on treatment development in Fragile X syndrome. These examples will be discussed in a family-friendly manner to assist stakeholders with interpreting and digesting publicly available information describing this treatment development.

Runtime: 0:56:25

About the Speaker

Elizabeth Berry-Kravis, MD, PhD

Professor at Rush University Medical Center

Elizabeth Berry-Kravis, MD, PhD, is a professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago. She attended the University of Notre Dame for her undergraduate studies and the University of Chicago for her medical degree, PhD, and training in pediatric neurology.

She moved to Rush in 1992 and established the Fragile X Clinic and Research Program, through which she provides care to over 700 patients with fragile X syndrome.

She has studied fragile x syndrome medical issues, epilepsy, and psychopharmacology, and has been a leader in translational research, including the development of outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments.

Her laboratory studies cellular roles of fragile X mental retardation protein (FMRP), its relationship to phenotypes, and optimization of genetic testing methods.

In the past decade, she has expanded clinical translational work to other neurodevelopmental disorders and genetic neurodegenerative diseases including autism spectrum disorder, Phelan-McDermid syndrome, Rett syndrome, Angelman syndrome, Smith-Magenis syndrome, DDX3X syndrome, Niemann-Pick type C, Batten disease, pantothenate kinase-associated neurodegeneration, and creatine transporter deficiency. She has over 250 publications on genetic neurological diseases and is on advisory and review boards for the FRAXA Research Foundation, National Fragile X Foundation, Phelan-McDermid Syndrome Foundation, International Rett Syndrome Foundation, Angelman Syndrome Foundation, Foundation for Angelman Syndrome Therapeutics, and the GATHER Foundation.

She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology, John Merck Fund Sparkplug Award, FRAXA Ingenuity Award, and Child Neurology Society Denckla Award for her work in treatment translation for fragile x syndrome and genetic cognitive disorders.

Craig A. Erickson, MD

Professor at Cincinnati Children’s Hospital Medical Center

Craig A. Erickson, MD is a Professor of Psychiatry at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine-Affiliated. Dr. Erickson leads a neurodevelopmental clinical and research group focused on improving clinical care through research discovery. He is the Director of the Cincinnati Fragile X Research and Treatment Center which is one of the largest such programs in the world. He serves as the Chair of the Clinical Trials Committee organized by the National Fragile X Foundation and is a leader in translational medicine efforts in fragile X syndrome, autism, and related disorders. Additionally, he is the director of research in the Division of Psychiatry at Cincinnati Children’s Hospital.