Washington, D.C. — Researchers from around the world are collaborating in making real progress they hope will lead first to helpful treatments and then to more curative therapies for Friedreich's ataxia, a rare, degenerative, neurological disease that puts its victims in wheelchairs and often leads to death in early adulthood. The latest research is detailed in the current issue of the FARA Update highlighting an international conference that brought together 100 top researchers from around the world.
"There are really a number of promising approaches underway exploring prospective gene-based and protein-based repair mechanisms for Friedreich's ataxia," said Ronald Bartek, President of the Friedreich's Ataxia Research Alliance. "Friedreich's research is also drawing upon a wealth of knowledge gained from other neurological diseases and even cancer research that is bringing us closer to finding an effective treatment."
Friedreich's ataxia is a hereditary disease that often first becomes noticeable as a balance and coordination problem when children are in elementary school. Further loss of strength and coordination in all four extremities usually forces them into wheelchairs by their teens, while the disorder impairs vision, hearing and speech as it progresses. It is frequently associated with severe heart disease, scoliosis, and diabetes. In the later stages of the disease, patients are usually completely incapacitated, often dying of cardiac failure. Average life expectancy extends only to early adulthood. However, some people with less severe symptoms of Friedreich's ataxia live much longer. Friedreich's ataxia, although rare, is the most prevalent inherited ataxia, affecting about 1 in every 50,000 people in the United States. At the present time, there is no effective treatment or cure for Friedreich's ataxia.
Friedreich's ataxia is caused by a genetic defect leading to a shortage of the protein responsible for managing the cell's use of iron in energy production. That protein shortage results in a toxic increase of the free radicals and oxidative stress that damage and kill cells. While some of the world's Friedreich's ataxia scientists pursue the needed gene-based and protein-based therapies, others devote themselves to identifying and developing drugs that promise to slow the course of the disease by reducing the free radicals and the oxidative stress they cause.
In fact, Friedreich's ataxia families are fortunate to have now underway the first U.S. clinical trial of a Friedreich's ataxia drug - the antioxidant, Idebenone. The trial is designed to demonstrate to FDA standards whether Idebenone has beneficial impact. The trial is currently in phase I, which will determine the maximum dose of Idebenone that Friedreich's ataxia patients will tolerate so the researchers can determine what dose to use in the subsequent phases of the trial designed to examine the drug's effect.
Phase I is being conducted at the National Institutes of Health in Bethesda, Maryland, while subsequent phases will probably involve a number of additional sites.
FARA was established in September of 1998 and gave its first research grant in April of 1999. Since that time, as a result of the generosity of donors, the tireless commitment of the people conducting fundraisers, and the increasing tempo of the Friedreich's ataxia scientific progress, FARA has awarded research grants that now total more than a million dollars.
Copies of FARA Update are available on FARA's Web site: http://www.FAResearchAlliance.org
The Friedreich’s Ataxia Research Alliance (FARA) is a 501(c)(3), non-profit, charitable organization dedicated to accelerating research leading to treatments and cures for Friedreich's Ataxia (FRDA) and the related sporadic ataxias. http://www.FAResearchAlliance.org
President, Friedreich’s Ataxia Research Alliance