Fragile X: Original Research Articles

The original research articles here were written by Fragile X professionals within the FXCRC and NFXF team to address critical needs in Fragile X research and treatment.

These are open-access articles distributed under the Creative Commons Attribution License↗, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. This encourages collaboration, and they are commonly referenced by industry and other professionals working on Fragile X.

The NFXF is dedicated to our vision of a world where every family is empowered to successfully navigate the Fragile X journey. To address the needs of the Fragile X community, we are proud to collaborate with Fragile X professionals who share our vision.

Thank you to the professionals who dedicate their careers to learning more about Fragile X. And thank you to the families who participated in the research summarized in these articles. We couldn’t do it without you!

Researchers interested in accessing this data, please visit the NFXF Data Repository.

Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome

Parent and Caregiver Perspectives

This original research provides evidence that caregivers can reliably identify behaviors that are meaningful for anxiety, and may be represented on outcome measures that can be developed, validated, and later employed in clinical and research settings.

Read: Observable Symptoms of Anxiety in FXS
Charts showing study findings on anxiety from "Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives."

Voice of People with Fragile X Syndrome and Their Families

Reports from a Survey on Treatment Priorities

This paper presents family member, caretaker, professional, and self-reported information on the characteristics of Fragile X syndrome that have the greatest impact on daily lives. The responses highlight the role of anxiety and other key symptoms affecting their lives and demonstrate some of the challenges often encountered in “voice of the person” research within the population.

Read: Voice of People with FXS
Charts seen in article "Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities"

Best Practices in Fragile X Syndrome Treatment Development

Despite significant pre-clinical data supporting translation of many drugs to humans, combined with some success in early-phase studies, no definitive large-scale placebo-controlled trials have led to drug use indications specific to Fragile X syndrome.

We recognize the importance of issuing recommendations for methodology, including study design and strategies, which can maximize the potential for success for the bench-to-bedside treatment development pathway. With this in mind, we review key aspects of the process of Fragile X syndrome treatment development with an eye toward ensuring successful trials of new treatments, incorporating innovative research and stakeholder concerns, can be enacted.

Read: Best Practices in FXS Treatment Development
Treatment Recommendations

While there is currently no cure for Fragile X syndrome, there are many areas of treatment and intervention that can improve the lives of affected individuals and their families. Given the proper education, therapy, and support, all persons with FXS can make progress.

Our treatment recommendations for the three primary Fragile X-associated disorders are written by and for professionals, with the understanding that they will be published online by the NFXF, read by caregivers, parents, and other family members (and in the case of some documents, by patients), and shared by those caregivers, parents, families, and patients with their own care professionals.