Improving Treatment Through Leadership of the FXCRC

By Robby Miller

This year the National Fragile X Foundation is celebrating its 40th anniversary! It’s hard to believe we have already spent 40 years serving the Fragile X community -families living with Fragile X, their loved ones, and professionals alike- and I think I speak for our entire team when I say we look forward to serving the community for the next 40 years (and more!). As a tribute to the organization’s rich history, we are cataloging our journey in monthly blog posts. We have so many people and institutions in our history it’s hard to capture them all, but we will certainly do our best. Join us as we walk down memory lane, memorializing how the National Fragile X Foundation got to where we are today so we can dream together of the brightest possible tomorrow.

– Hilary Rosselot

How the NFXF has Improved Treatment Through Its Leadership of the Fragile X Clinical & Research Consortium

In 2006, NFXF staff, in collaboration with a doctor who specialized in Fragile X syndrome, organized a session at the international conference in Atlanta, titled “A Fragile X Clinic Coming Your Way?” and used that session to promote the idea of forming a network of Fragile X specialty clinics throughout the U.S. At that time, 11 medical institutions in the country had a doctor and other specialists who had a focus on Fragile X syndrome. However, this being a large country, the NFXF was concerned that families who were not near one of these sites were traveling long distances, with all the associated financial and other challenges, to have their child seen by one of these doctors. To address that concern, the NFXF launched the Fragile X Clinical & Research Consortium (FXCRC).

Annual Meetings of the FXCRC

Thanks to a grant from the Centers for Disease Control, the NFXF was able to organize annual meetings of the FXCRC and to expand the network to over 30 U.S. clinics! Today, those clinics provide comprehensive evaluation and treatment options for children and adolescents with FXS. (In 2023 more than 1500 visits to FXCRC clinics took place!)

Many of the clinics also provide services to adults with FXS, and those that are unable to (many of the clinics are part of a children’s hospital) have committed to helping families find appropriate adult care. In addition, many of the clinics provide services or referrals for those with a premutation condition such as FXTAS or FXPOI.

Though clinical treatment is a key component of the FXCRC, many of the clinics also conduct or participate in research projects to increase our understanding of Fragile X, leading to new and improved treatments. In coordination with the clinics and many others, the NFXF supports numerous research activities including through its Research Readiness Program, recruitment support, and dissemination of research results. (More about the NFXF’s role in research in next month’s blog post.)

Treatment Recommendations to Improve Clinical Care

The NFXF continues to organize both in-person and online meetings of the FXCRC. The NFXF also organizes the creation and maintenance of Treatment Recommendations, which are summaries that communicate existing knowledge and intervention strategies in a more family-friendly way than papers written by and for professionals. The content is generally based on expert opinion and consensus by those who have extended experience in the Fragile X field, and, wherever possible, the content also includes data and scientific evidence-based recommendations.  These Treatment Recommendations are widely used around the world to help families and providers learn about and treat Fragile X.

As the doctors who have been leading the clinics for the past 20 to 30 years begin to retire, the NFXF is working hard to ensure that younger doctors step in to fill their shoes and maintain the passion about all things Fragile X that has been a hallmark of the FXCRC these past 18 years! This is a very important role, as a clinician who knows about Fragile X is invaluable.

You can learn more about the FXCRC and find the clinic nearest to you at https://fragilex.org/living-with-fragile-x/clinic-finder/