Two recently published, peer-reviewed Fragile X research papers are now available on our website. Both were originally published for Brain Sciences, an international open access journal on neuroscience supported by more than 35,500 academic editors.
Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities
To date, there has been limited research on the primary concerns and treatment priorities for individuals with Fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list.
The survey was completed by 467 participants, including family members or caretakers, professionals who work with a person with FXS, and individuals with FXS. Respondents indicated three main general areas of concern: anxiety, behavioral problems, and learning difficulties. Brain Sci., Volume 9, Issue 2 (February 2019)
Best Practices in Fragile X Syndrome Treatment Development
Preclinical studies using animal models of Fragile X syndrome have yielded several agents that rescue a wide variety of phenotypes. However, translation of these treatments to humans with FXS has not yet been successful, shedding light on a variety of limitations with both animal models and human trial design.
As members of the Clinical Trials Committee of the National Fragile X Foundation, we have discussed a variety of recommendations at the level of preclinical development, transition from preclinical to human projects, family involvement, and multi-site trial planning. Brain Sci., Volume 8, Issue 12 (December 2018).
At the National Fragile X Foundation, we are particularly proud of these articles because our own Jayne Dixon Weber, community services director, is a co-author on both papers, and Robby Miller, clinic & international relations director, and founder/member of the NFXF Scientific and Clinical Advisory Committee, is a co-author for “Best Practices in Fragile X Syndrome Treatment Development.”
In addition to writing articles and hosting webinars on the subject of Fragile X, Jayne is the author of the book, “Transitioning Special Children in Elementary School,” and editor of “Children with Fragile X Syndrome: A Parents’ Guide.”
Many of our readers will also be familiar with many of the other co-authors, such as Elizabeth Smith, Diego Cadavid, Walter E. Kaufmann, Dejan B. Budimirovic, Barbara Haas-Givler, and several additional members of the Scientific and Clinical Advisory Committee: Elizabeth Berry-Kravis, David Hessl, Craig Erickson, Ave Lachiewicz, Leonard Abbeduto, David Hessl, and Randi J. Hagerman.