IRON CHELATION THERAPY FOR FRIEDREICH ATAXIA

University Of Utah, Salt Lake City UT

Investigators

Linked publications & trials

Abstract

Friedreich ataxia is the most common of the early-onset ataxias. The disorder is transmitted as an autosomal recessive trait, and affects approximately 2 per 100,000 people. Disease symptoms typically appear between the ages of 8 and 15 years. Gait disturbance (ataxia) is the most common symptom, but other neurologic findings are common. The defect responsible for Friedreich ataxia also affects organs outside the nervous system. Heart failure due to heart muscle damage is present in most cases, and is usually the cause the death. This trial of iron chelation therapy with subcutaneous infusions of desferrioxamine is based on the discoveries of Dr. Kaplan, one of the investigators, that have demonstrated that the Friedreich ataxia gene product, a protein called Frataxin, functions to regulate iron export from mitochondria. When Frataxin is deficient, iron accumulates in the mitochondria of nerve cells and heart muscle cells. This one-year trial of iron chelation therapy was designed to determine if mitochondrial iron overload can be reduced and whether disease progression can be arrested in patients with Friedreich ataxia.