A 40 Year History of Supporting Research

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

A 40 Year History of Supporting Research

Last month’s 40th Anniversary blog post included a focus on the NFXF’s Fragile X Clinical & Research Consortium (FXCRC). While much of the post talked about the treatment provided at the 33 clinics in the U.S., it is important to remember that the NFXF has been supporting, facilitating, and coordinating research throughout its 40-year history! Here are just some of the highlights: 

Most of the FXCRC clinics participate in a CDC-funded, NFXF-managed, natural history, longitudinal research project called FORWARD (Now referred to as FORWARD-MARCH). First funded in 2008, and currently in its 4th funding cycle, it has resulted in 26 articles in scientific journals! Most importantly, the knowledge gained from the research has had a big impact on the care and treatment provided at the clinics, in doctor’s offices, in schools, in therapy sessions and in homes.  

FORWARD-MARCH is only one of the many ways that the NFXF has supported research. In the early days, when researchers struggled to generate the data necessary for an application to one of the government’s research funding sources, the NFXF was there with “seed” grants to help them generate that data.   

With an eye towards the future, the NFXF has been supporting promising young scientists through its Summer Student Fellowships (Now called the, Randi J. Hagerman Summer Scholars Research Awards) with more than 50 awards having been provided over the years! These awards help allow the young researchers to stay focused on Fragile X and, in many cases, guide them towards a career that includes Fragile X.  

The NFXF Clinical Trials Committee (CTC) was formed around 2017 and is a group of key Fragile X researchers, clinicians, and NFXF professionals who advise researchers, including biotechnology and drug companies, on the development and implementation of their Fragile X programs.  This group has also authored several papers that have played an important role in understanding priorities for families related to research and treatment, ultimately inspiring the NFXF-led Patient-Focused Drug Development meeting. 

The NFXF Research Readiness Program has become a very important effort of the NFXF. Launched in 2019, it provides a chance for researchers to talk with families and other experts before planning their research. Doing so helps ensure that the research is scientifically sound and properly focused on the needs of families and individuals.  

The NFXF Data Repository is an exciting advancement for the field, as it is a central bank for data from caregiver surveys and studies as well as past clinical trials and their biosamples.  

Importantly, the NFXF partnered with clinicians, researchers, and family representatives from around the world to create the International Fragile X Premutation Registry. This registry connects registrants to potential research opportunities related to Fragile X premutation and is an important step in supporting premutation research. 

As you can see, for most of its history, the NFXF has worked hard to increase our understanding of Fragile X-associated conditions and we will continue to do so in the years to come!