Friedreich’s ataxia:
Friedreich’s ataxia is a rare, life-shortening childhood-onset disease that causes progressive damage to the nerves and muscles. Symptoms usually begin between 5 and 15 years of age. Sadly, many people with FA die in early adulthood due to heart disease.
The disease 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 progressively causes certain cells to deteriorate, making it harder for those with FA to walk and talk, and wreaking havoc on the 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.
Two organizations that are committed to FA research include the Friedreich’s Ataxia Research Alliance (FARA) and the Muscular Distryophy Association. FARA is an organization dedicated to accelerating research leading to treatments and a cure for Friedreich’s ataxia. 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. Local districts of MDA have been wonderful partners in grass roots efforts to raise money for FA research.
The two organizations jointly fund FA research around the world and have established a “Partnership for a Cure” in which they are collaborating to support promising FA research.
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.