The Race against Time: Funding research to slow, stop and reverse a life-shortening disease

 

As many of you already know through past articles, Matt Rupel, age 16, has battled Friedreich’s ataxia symptoms since he was in fourth grade. His gait is sloppy, but he’s grateful to be wheelchair free for now.  He is showing signs of heart disease, and he’s already had major back surgery to counter his aggressive scoliosis and kyphosis. He swallows 21 “repulsive” pills a day, and to date, he’s participated in three studies to do his part in supporting research efforts.

 

Research and the fundraising required to make that research possible are bringing scientists closer and closer to slowing, stopping, and reversing the damage caused by Friedreich’s ataxia.

 

Friedreich’s ataxia is caused by a mutation in the FRDA gene which greatly reduces the amount of frataxin protein that is produced.  Without a normal level of frataxin, certain cells in the body (especially spinal cord, heart and other muscle cells) cannot effectively produce energy and have a buildup of toxic byproducts such as iron, leading to what is called “oxidative stress,” which releases free radicals and results in cellular degeneration.  As the cells die, FA patients’ symptoms increase.

 

Translation: a really defective gene is progressively causing certain cells in Matt’s body to deteriorate, making it harder for him to walk and talk, and wreaking havoc on his heart muscle.

 

To reduce the levels of the damaging free radicals in FA patients, scientists are studying antioxidants such as Coenzyme Q10, Vitamin E, Idebenone (an antioxidant that is a synthetic analog for Coenzyme Q10) and MitoQ (similar to Idebenone and CoQ10 but designed to be able to get into the energy-producing parts of the cells easier.) They are also studying similar drugs that might be able to increase energy production while reducing the free radicals.

 

Others are exploring ways to increase frataxin levels to a normal range through drug treatment, genetic engineering, and protein delivery systems. Millions of dollars have been spent on this research and millions more are required to deliver FDA approved treatments and ultimately, a cure.

 

Friedriech’s ataxia is an orphan disease: a disease that is rare enough that there is little financial incentive for the private sector to make and market new medications to treat or prevent it. While the US Orphan Drug Act of 1983 offers tax incentives and seven years of marketing exclusivity to pharmaceutical companies for attacking these rare diseases, fundraising efforts remain critical to ensure that grants are available for key FA research.

 

With such a rare disease, those efforts must be grass roots—families affected by FA are creating their own fundraising campaigns and events, each one raising hundreds, thousands, or tens of thousands, which then combine to make a huge difference. Their winter newsletter, FARA (Friedreich’s Ataxia Research Alliance), an organization dedicated to accelerating research leading to treatments and a cure for Friedreich’s ataxia, reported over 25 individual fundraising events across America that raised anywhere from $800 to $50,000. Added up, the events raised approximately $450,000, and that was just a sampling of the grass roots efforts across the country. Coincidentally, Matt Rupel’s Honors Algebra teacher at Santa Clara High, Mr. Gerald Zaplawa, is very involved in the Bro Golf Tournament event held annually in honor of good friend Jeff “Rosie” Rosenkrantz who died with FA several years ago. That event raised almost $13,000 for FA research in 2006.

 

Many of these events are held under the auspices of the Muscular Dystrophy Association. MDA is a voluntary health agency determined to conquer over 40 neuromuscular diseases (one of which is FA) that affect hundreds of thousands of Americans. Most people know MDA through the famous Jerry Lewis Labor Day Telethons (Matt Rupel participated in the 2006 telethon.). Local districts of MDA have been wonderful partners in grass roots efforts to raise money for FA research.

 

The Mission Counties Chapter of MDA, located in San Jose, funds general Muscular Dystrophy research, both a pediatric and adult clinic at Stanford Hospital, support groups, summer camp at Camp Harmon in the Santa Cruz Mountains, and funding for wheelchairs and leg braces for hundreds of local families affected by neuromuscular disease. In addition, this chapter of MDA partners with the Rupels for their FAITH (FA in the Heart) event each year. Last year, FAITH brought in over $31,000 which went directly to MDA’s Seek A Miracle Foundation for FA research. Since its inception in 1995, Seek A Miracle/MDA has funded well over one million dollars worth of FA-related scientific grants.

 

And for the past 3 years, it has joined forces with FARA (who has devoted more than $8 million to FA research) to jointly fund FA research around the world. In addition, FARA has established with the MDA a “Partnership for a Cure” in which they are collaborating to support promising FA research. For instance, the two organizations co-fund a long-term study that Matt participates in with the goal of developing and validating clinical outcome measures for FA. This is a necessary prerequisite to testing the effectiveness of any possible treatment.

 

The FA community is a small but powerful force to be reckoned with. Families have made it their personal mission to find treatments and ultimately, a cure. “When FARA began eight years ago,” says co-founder and president, Ron Bartek, “we were full of hope and commitment.  The FA community—patient families and scientists—has really come together and worked so hard that we have all now replaced our hope with confidence, and we have redoubled our commitment.  We know we will get treatments and a cure, and we know we must all do our part both to raise the funds required and assemble the patients required to push successful clinical trials across the finish line together.”

 

Scientists believe we have entered the “treatment era” for FA because of the promising results from recent clinical studies for various antioxidants and the plans for increasing numbers of clinical trials with the goal of bringing important new drugs to market. The scientific community is so convinced they will achieve a breakthrough in FA soon that they are already pondering how to develop the mechanisms for newborn screening so that treatments can be administered early. It’s just a matter of time and money. So the grass roots fundraising effort continues.

 

Next week: Matt Rupel speaks: Living with a life-shortening disease.

 

For more information on Friedreich’s ataxia, the FAITH Event on February 10^th, and how you can help find a cure, e-mail Heather Ripley at MDA’s Mission Counties Chapter office: hripley@mdausa.com or call her at (408) 423-9345. Please mention FAITH.