With Liz Berry-Kravis, MD, PhD and Nicole Tartaglia, MD

Over the past 15 years, CDC has funded four FORWARD (Fragile X Online Registry With Accessible Research Database) Fragile X studies to expand understanding of Fragile X syndrome (FXS). In September of 2021, the CDC issued an award to continue building this infrastructure and we are now entering the fourth study called FORWARD-MARCH (Multiple Assessments for Research Characterization)!

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FORWARD-MARCH Presentation and Q&A

During the webinar, Amie Milunovich, National Coordinator of the FORWARD study, moderated a presentation by Drs. Elizabeth Berry-Kravis and Nicole Tartaglia. Following the presentation was Question and Answer session covering the specifics of the FORWARD study. The panelists shared resources and information while discussing the following topics:

  • Next step to FORWARD, a study called FORWARD-MARCH. The FORWARD-MARCH project will collect more detailed information from participants with FXS and add it to the existing FORWARD database. The study will involve in-person standardized assessments to observe cognition, language, behavior, and autism diagnosis.
    • Participating clinics can be found on the NFXF website here.
    • Eligibility includes a FXS diagnosis and birth year between 2003-2017.
    • Participants will receive a summary of their testing results from the assessments (ADOS, SB5 and Vineland 3) and can use these as needed to complement or inform school evaluations, or for other social or disability programming.
  • Latest finding from FORWARD data were discussed. Publication results about growth, preventative care, medical problems, seizures, sleep problems, toileting, autism diagnosis, medication use, and other topics were presented.
  • FORWARD is helping advance knowledge about Fragile X Syndrome. FORWARD Participation leads to important findings that benefit the community. Publications from FORAWRD data can help:
    • Inform health care treatment recommendations.
    • Help understand neurodevelopment and behavior patterns in FXS.
    • Understand how health and behavior change through childhood and into adulthood.
    • Inform Fragile X Treatment and Intervention Recommendation Documents.
    • Contribute to medical knowledge and identify new research questions.

Learn More About the Panelists

Elizabeth Berry-Kravis, MD, PhD, is a professor of Pediatrics, Neurological Sciences, Anatomy, and Cell Biology 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. In 1992, Dr. Berry-Kravis 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 the Fragile X protein (FMRP), its relationship to phenotypes, and optimization of genetic testing methods. Dr. Berry-Kravis is also a member of the NFXF’s Clinical Trials Committee.

Nicole Tartaglia, MD, works as faculty for the Colorado School of Medicine at Children’s Hospital Colorado in the Department of Pediatrics Section of Developmental Pediatrics, where she founded and directs the eXtraordinarY Kids Clinic for children and adolescents with sex chromosome disorders, and is also the director of the Denver Fragile X Clinic. In these clinics, she leads multidisciplinary teams that include medical providers, genetic counseling, psychology, speech-language therapy, occupational therapy, nursing, and social work, and collaborates extensively with community providers, therapists, and schools to provide optimal care for these special populations. She also evaluates and treats children with general developmental delays, autism spectrum disorder, ADHD, and other neurogenetic disorders.

She attended university and medical school at the University of Colorado. She completed her training in general pediatrics at Children’s Hospital Los Angeles, and fellowship training in developmental-behavioral pediatrics at the University of California Davis MIND Institute, where her research focused on children and adults with developmental disabilities, chromosomal abnormalities, Fragile X syndrome, and autism spectrum disorder. She also obtained her master’s in clinical investigation from the University of Colorado Graduate School.

Dr. Tartaglia has federally funded research projects evaluating natural history and outcome measures in sex chromosome disorders and Fragile X and collaborates with national networks of clinics to develop best practices for treatments of these conditions. She is also very active in clinical trials of targeted treatment medications for neurobehavioral features and developmental disabilities. Dr. Tartaglia is also a member of the NFXF’s Clinical Trials Committee.

Author Hilary Rosselot

Hilary Rosselot
Hilary joined the NFXF team in 2019. Prior to joining the NFXF team, she worked at the Cincinnati Fragile X Research and Treatment Center for over five years. She has experience as a clinical research coordinator across many types of clinical trials and served as the clinical research manager for the Cincinnati program. She earned a bachelor’s degree in psychology, a master’s, and is a SOCRA certified clinical research professional (CCRP). She enjoys time with family and friends, a great book, a strong cup of coffee and, of course, a good laugh!