Celebrating Top Members-Project Vote-Getters: Spotlight on Fragile X Syndrome

[I've written here about six projects proposed for the American Express Members Project that were in the top 25 by number of votes, but were not selected by the advisory board. To celebrate the efforts of parents who got that vote out, and spotlight some worthwhile charities, I'll be profiling these bypassed projects over the next week. Though they're no longer in the contest, I hope you'll consider voting with your pocketbook and making a donation.]

Project Name: Cure Fragile X

Popular Vote: The project was #5 in number of votes when the American Express Members Project Top 25 were chosen, with 3,331.

Disability Addressed: Fragile X Syndrome. According to the A.D.A.M. Health Illustrated Encyclopedia, "Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females." To learn more about Fragile X and the possibility of a cure, view the video "Fragile X - Hitting the Mark."

Achievable Goals: I asked Katie Clapp, president and co-founder of The Fragile X Research Foundation (FRAXA), what might have been done with the amounts of money the American Express Members Project is awarding this year, which range from $100,000 to $1.5 million. Her response:

"Imagine a cure for autism and mental retardation. In 1994, a group of parents of kids with Fragile X (FX) -- the most common inherited cause of mental retardation and autism -- dared to dream that big. They started FRAXA Research Foundation to seek a cure for this tragic disorder. In just fourteen years, FRAXA-funded research teams have cured FX in mice and are now poised to bring newly discovered drugs into pivotal human clinical trials. Three Nobel Laureates are FRAXA scientific advisors -- two of them also run research teams to find the cure. These Nobels agree that Fragile X research could lead to treatments for a range of brain disorders, including Down syndrome and Alzheimer's disease.

"Scientists worldwide are now researching drug therapies and have already submitted proposals to FRAXA to translate lab results into effective treatments via human trials. The proposals have been prioritized according to which represent the best odds for scientific breakthroughs, leaving no viable approach unexamined. Each one costs about $100,000 over two years. The only thing missing is the essential infusion of research dollars to advance the work that has already been done and push it over the goal line. If FRAXA were to have received the $1.5 million, 100 percent would have gone toward research, and the teams of scientists could have started working on their approaches as quickly as two weeks from the receipt of the prize money."

Current Research: The "Summary of Findings" page on the FRAXA site offers a look at exciting developments in Fragile X research:

"We are often asked 'What is the research most likely to lead to better treatments for Fragile X in the near future?' While no one can foresee the future, we are optimistic that the mGluR Theory of Fragile X will lead to treatments for Fragile X and for autism.

"The first step towards a cure is to fully understand the cause of Fragile X. In the words of Nobel Laureate James D. Watson, the 1991 discovery of the Fragile X gene 'was the first major human triumph of the Human Genome Project.' Researchers now know that this gene shuts down in people with Fragile X, and the result is that brain cells don't communicate normally. In fact, there is actually too much of a certain kind of learning; in scientific jargon this is termed mGluR-LTD. Researchers have found that excessive mGluR-LTD may be common to many forms of autism spectrum disorders.

"The really exciting part of this discovery is that it is possible to intervene in this hyperactive brain mechanism. Compounds exist which dampen the mGluR pathway, and some of these drugs are being developed by major pharmaceutical companies for other indications, like anxiety disorders. This discovery has led us to the threshold of treatment for Fragile X, and possibly for autism as well.

"FRAXA-funded scientists are currently testing several drug strategies for toning down this excessive activity. Animal studies are in progress, several human Fragile X trials of new compounds are being planned, and a clinical trial of one drug which acts on mGluR pathways -- lithium -- is underway."

Also causing some excitement lately is a finding that minocycline, a commonly available acne medication, reduces the effects of Fragile X in mice.

Potential Impact: According to Clapp, "There are about 90,000 Americans with Fragile X, but it affects people around the world (about 1 in 5,000 of all races and ethnic groups). There is a good chance that this research will also help people with autism and other forms of mental impairment. This research could impact millions."

Personal Appeal: Sally Nantais, mother of a child with Fragile X, writes, "Much of the research accomplished for Fragile X at this point has been due to families and individuals who support organizations like FRAXA (created by families to address the lack of funding for research for Fragile X.) I'm a huge advocate of research, my children and I have participated in so many studies I had to design a resume to track them all. Research is one of our ways of giving back, one of our ways of being part of the solution, one of our ways to help others. Every year my birthday present includes a donation to FRAXA. Every day I wake up I know I'm doing my part and every day I realize it's not just about Fragile X, it's about helping every child with special needs."

How to Help: "To impact those already afflicted, time is of the essence, since the symptoms of FX worsen with age," Clapp reports. "FRAXA was founded by parents, is parent run, and has been funded by families with FX the whole time. Already burdened with high medical and caretaking costs, these families are financially strapped and funding for breakthrough research is at risk. Scientists are sending us new research proposals now and we'll receive dozens more before our next formal deadline on 2/1/09. We would have used the Members Project funds to support the top new projects. Without those funds (given the financial downturn right now), we have enough money to renew current grants but won't be able to fund more than a handful of new ones. This is very sad because we would have been able to start another clinical trial of another promising medication."

To support FRAXA's efforts, you can make a donation online, or check the FRAXA site for other ways to get involved.

Previous spotlights:

• Eosiniphilic Esophagitis