Frank Wootten of Hooksett, NH will ride his bicycle from St. Augustine, FL to the Scripps Research Institute in La Jolla, CA next month to raise awareness and research funds to help find a cure for his son’s Friedreich's Ataxia, a devastating neurodegenerative disease. Mr. Wootten's son, Thomas, 28, is confined to a wheelchair. Thomas, nicknamed 'TK' like his grandfather and great-grandfather before him, lives with Friedreich's and his service dog James Bond in Columbia, SC.
"I am hoping that through my cycling I can help my son and many others who suffer from this horrible disorder," said Mr. Wootten.
The Scripps Research Institute is one of the centers that have been instrumental in researching the causes and possible treatments for Friedreich's ataxia. About one of every 20,000 to 50,000 people in the United States has Friedreich's ataxia, which is caused by a genetic defect that prevents adequate production of the protein frataxin. In our bodies' cells, frataxin is essential for proper functioning of mitochondria, the cells' energy factories. Low levels of the protein lead to energy deprivation, cell death and degeneration of nerve and muscle tissue in key systems including the heart, spinal cord, arms and legs, vision, speech and hearing.
Specific symptoms, which typically first appear between the ages of five and 15, include trouble walking, reduced hand coordination, and slurred speech. The disease also typically leads to scoliosis, heart disease, and diabetes. Most Friedreich's ataxia sufferers are eventually confined to a wheelchair and die as young adults, mostly due to associated heart disease.
There is currently no effective treatment. However, several clinical studies are planned over the next few years testing various promising compounds to treat the disease.
A team from The Scripps Research Institute and the University of California School of Medicine has developed HDAC inhibitors that, in test cells, reactivate the frataxin gene so as to boost frataxin protein production to therapeutic levels. Those compounds are currently being tested in animal models human testing could occur within the next 18 months.
The progress of research is very dependant upon private financing. The Friedreich's Ataxia Research Alliance (FARA) is a 501(c)(3), non-profit, charitable organization dedicated to accelerating research leading to treatments and a cure for Friedreich's ataxia. Since its founding in 1998 by Friedreich's ataxia-affected families and scientists, FARA has provided about $8 million in grants to scientists around the world who are pursuing treatments. Click for information on how to donate to FARA.
President, Friedreich’s Ataxia Research Alliance