Fraxa Research Foundation, Inc.

FRAXA's overarching goal is to find a cure for Fragile X syndrome and deliver it to families in need.FRAXA is working to find specific treatments and ultimately a cure for Fragile X, but at present, there is no cure.
Fortunately, there are many medications to manage symptoms, special education, therapies, and many helpful strategies.

FRAXA-funded research has achieved significant breakthroughs in understanding Fragile X. We now know that the Fragile X protein's normal role is to help shape the connections between neurons (brain cells) that underlie learning and memory, and we are beginning to understand how the lack of this protein causes Fragile X syndrome. Because absence of the FMR protein delays the development of neurons, rather than damaging or destroying them, it is likely that treatments now being investigated will benefit all individuals with Fragile X, regardless of age.

Over the near term, we aim to find effective, specific treatments that substantially improve the lives of children and adults now living with Fragile X, as well as their families, caretakers, and loved ones.

FRAXA funds biomedical grants and fellowships for university-based research teams worldwide. We maintain extremely high efficiency.

FRAXA organizes scientific meetings on Fragile X and autism where investigators present new unpublished data, form collaborations, solve key problems, and design novel treatment strategies.

FRAXA partners with pharmaceutical companies, large and small, sharing expertise, contacts, and other resources to help develop or repurpose therapeutic compounds for Fragile X syndrome.

FRAXA's greatest strength is its people. Our Scientific Advisory Board includes three Nobel Laureates, several Howard Hughes Investigators, and members of the National Academy of Sciences. FRAXA's Directors and key staff are all parents of children affected by fragile X syndrome; they are dedicated to the cause. Most of our funds are raised by thousands of volunteers across the US who are directly impacted by fragile X syndrome.

Along with funding translational, preclinical and clinical research, FRAXA maintains key resources for treatment development. One example is the FRAXA Drug Validation Initiative, a preclinical testing facility in Chile where dozens of potential drugs have already been tested -- and some of those drugs have gone to clinical trials.

Dr. James Watson, winner of the Nobel Prize in Medicine, wrote:
“Studies of fragile X have been galvanized by those most directly affected … experience shows that dedicated, resourceful, and, above all, motivated organizations like FRAXA sometimes do hold the key to cracking these diseases." (DNA – The Secret of Life, by James Watson)

FRAXA Research has progressed from understanding the cause of this disease (a defective gene) to conducting advanced Phase III clinical trials of targeted medicines to reverse signs of the syndrome in children and adults. Clinical trials are happening now, of investigational new drugs and of existing medicines which no one knew might be useful for treating Fragile X.
A great disappointment in 2014 has been the failure of clinical trials of investigational new from Novartis, Roche, and Seaside Therapeutics. Despite high hopes, this first round of trials did not show benefit for Fragile X patients.

However, there are many other potential therapeutics in the research pipeline, and these first trials have taught us much about clinical trial design. FRAXA has helped bring two new classes of medications from basic research through phase III clinical trials. Our next steps are to tune clinical trial design for Fragile X and bring forward other medicines now in that pipeline. FRAXA is proceeding full speed ahead!

Please see www.fraxa.org for our story.