By Kristi Wright

 

Last year the Santa Clara Weekly published a series of articles on local teenager, Matt Rupel, and his battle against a rare, life-threatening disease called Friedreich’s ataxia that causes progressive damage to the nerves and muscles. Matt is now 17 years old.

 

A year ago, his ataxia caused him to “walk like a drunken sailor,” but he was still optimistic he could make it through high school without using a wheelchair. Unfortunately, his ataxia has worsened significantly, and recently he made the tough decision to switch to wheels for most of his daily activities. (Watch for an upcoming article on Matt’s ups and downs over the course of the last year.)

 

Every year, Matt’s family and friends organize a fundraiser event called FAITH—Friedreich’s Ataxia In The Heart—to raise much needed funds for research to treat and cure the disease. This year, FAITH will be held on Saturday, May 31^st. Details can be found at www.fa-ith.org. It’s a wonderful way to celebrate FA’s research progress.

 

I’ve been thinking a lot about this race against time for those who have Friedreich’s ataxia. It’s an odd sort of race, one where everyone in it desperately wants everyone else to cross the finish line. I picture a long row of FA kids and young adults holding hands, walking and wheeling their way along a treacherous path, hitting road bumps, road blocks, and dead ends. Far off in the distance they can see the finish line. Yet the farther they go, the farther away the line appears, like some strange mirage that shimmers in an unearthly light. Some participants fall by the wayside, leaving their comrades to move forward without them. Family and friends cheer them on, growing impossibly frustrated because no one can quite find the final path necessary to get this string of FAers to the finish line.

 

Cancer, AIDs, heart disease—every life-threatening disease has its own race to a cure, its own roadblocks and dead ends. And always more money required for research.

 

Why is it so hard to get to the finish line?

 

With any disease there are two main goals: cure it and treat it. For many diseases, curing them is a little like obtaining world peace—desperately wished for but very hard to come by. In FA’s case, scientists have identified the gene (FRDA) responsible for the disease; they’ve cloned it and decoded its sequence. They’ve discovered a protein that was not previously known (Frataxin). They know that both parents have to be carriers of the mutated gene in order for a child to inherit the disease (inherited recessively). They know the frataxin protein is severely reduced in FAers and that the patients have abnormally high levels of iron in their heart tissue. They have numerous theories about how to raise the frataxin levels, and how to lower the iron levels, and they are actively engaged in studies on these topics—more time, more money.

 

Treating a disease has nuances. Are you providing symptomatic benefits or is the treatment disease-modifying in that it delays, changes, or interrupts the natural course of progression of a disease? Without an outright cure, patients require a combination of both types of treatments. And due to FA’s abundance of symptoms, scientists must find drugs that can interact together appropriately in a treatment cocktail.

 

Before physicians can prescribe drugs they need to be FDA (U.S. Food and Drug Administration) approved. It’s easy to pull your hair out when it comes to the ridiculous time it takes for FDA drug approval, but to be fair, the FDA’s charter is to protect patients from unsafe substances. Unfortunately, the price for safety is high—new drugs take up to 15 years and millions of dollars to make it to market. That’s a long time to wait when your child’s life is about to fall into a lethal ditch. Often families are desperate enough to take on the risk of a non-FDA approved drug, paying a premium for promising drugs overseas.

 

To bring a treatment to market, first there needs to be initial discovery (up to $80K per year over many years) in which scientists work out the cause of the disease and target candidate drugs. Next, comes preclinical testing—both test tube and animal studies ($100K per year for at least two years). Then there are multiple phases of human testing. Phase I can take up to two years and uses escalating doses to learn side effects, safety, and best dose. Phase II typically has a larger pool of patients involved and assesses the potential for good effects as well as side effects. (Phase I and Phase II combined are $500-700K per year for four years). Finally, Phase III proves efficacy ($4-5M) and is where FDA approval happens. For much of this process, private research foundations and the government provide a good majority of the funding.

 

Also critical is the right infrastructure such as patient registries to identify potential clinical study participants, a natural history for the disease to answer the question: “How much does the disease change over how much time;” and finally, well-thought-out rating scales so that clinical studies can accurately measure the drug’s benefit.

 

Friedreich’s ataxia research moves forward on all fronts in large part due to a partnership between the Friedreich’s Ataxia Research Alliance (FARA) and Muscular Dystrophy Association (MDA).

 

FA patients and their family and friends are doing everything they can to speed up the research. This is a race filled with hope and energy, but it is a grueling race of endurance, one that feels impossible at times. Money is desperately needed. The fundraising continues; the race goes on.