Fragile X Syndrome: Who is FRAXA?

FRAXA is ...the

FRAXA Research Foundation

 - a nonprofit organization

founded and run by families affected by Fragile X

FRAXA's Mission

FRAXA’s mission is to accelerate progress toward effective treatments and ultimately a cure for Fragile X, by directly funding the most promising research.

FRAXA also supports families affected by Fragile X and raises awareness of this important but relatively unknown disease.

FRAXA was founded in 1994 by three parents of children with Fragile X to support scientific research aimed at finding a treatment and a cure for Fragile X. At that time, there was no Fragile X website or listserv, and only a handful of scientists were studying Fragile X. Funding by the U.S. government for this disease was under $2 million per year, with only $30,000 of that devoted to treatment studies. As parents, we had to change that.

Fragile X research is drastically underfunded, considering its high prevalence, prospects for a cure, and the promise that this research holds for advancing understanding of other disorders like autism, Alzheimer’s disease, and X-linked developmental disabilities.

Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.

- Margaret Mead

How Close are We?

• FRAXA’s Top 2013 Goals

  1. Three years ago, our goal was to initiate human trials of experimental drugs that target mGluR5 (mGluR5 antagonists) in people with Fragile X. That was done, and two years ago we began the next phase: long term (1 month or more) trials in people with Fragile X.
     These have been successful so far: Novartis completed a trial in Europe and published the results, and Roche has recently finished a trial in the U.S.
  2. Our other major goal over the past few years was to initiate clinical trials of available drugs which FRAXA-funded research showed to be promising, including lithium, baclofen, and minocycline. This too has been done:
     1. a small lithium trial was funded by FRAXA and positive results were published
     2. Phase III arbaclofen trials have been completed by Seaside Therapeutics although results were disappointing in Fragile X and in autism
     3. a small minocycline trial was funded by FRAXA in Canada and positive results were published
     4. Large scale trials of two mGluR5 antagonists are now running, sponsored by Novartis and Roche

  1. In 2013, our top goals are:
     1. to move forward with the final studies needed to bring mGluR5 antagonist drugs through clinical trials to the market
     2. to identify additional available drugs that show promise in treating or curing Fragile X
     3. to fund studies to validate additional new drugs – other than mGluR5 antagonists – which have come forward through basic research