This study will determine whether a drug called idebenone is safe and effective in reducing
the level of oxidants that are believed to damage the nervous system and hearts in patients
with Friedreich's ataxia. Friedreich's ataxia is caused by an abnormality in the gene that
makes a protein called frataxin, which is necessary for the proper functioning of
energy-producing parts of cells called mitrochondria. In Friedreich's ataxia, the
mitochondria become overloaded with iron, and high levels of harmful compounds called
oxidants are formed. These oxidants are believed to damage the cells of the nervous system
and hearts of people with Friedreich's ataxia. Idebenone is a man-made drug similar to a
naturally occurring compound known as Coenzyme Q10. This study will test whether idebenone
can alleviate some of the symptoms of Friedreich's ataxia and slow or halt the progression of
the disease.
Patients with genetically confirmed Friedreich's ataxia who are between 9 and 18 years of
age, weigh between 65 and 175 pounds and can walk 25 feet with or without an assistive device
may be eligible for this study. Candidates are screened with blood tests and a review of
their medical records.
Participants undergo the following tests and procedures:
- Medical interview and physical examination. Tests include blood and urine tests, an
electrocardiogram, or EKG (recording of the electrical activity of the heart),
echocardiogram (ultrasound test showing the pumping action of the heart, thickness of
the heart walls, and any valve leakage), and a detailed neurological examination,
including maneuvers such as copying a drawing and putting pegs in a board. Patients'
parents are asked questions about how they feel their child's disease affects the
child's quality of life.
- Magnetic resonance imaging (MRI) to examine the heart muscle and blood flow to the
heart. MRI uses a magnetic field and radio waves to produce images of body tissues and
organs. The patient lies on a table that is moved into the doughnut-shaped MRI scanner,
wearing earplugs to muffle loud knocking and thumping sounds that occur during the
scanning process. A catheter (plastic tube) is placed in a vein in the child's arm so
that a chemical called gadolinium can be injected during the MRI study. Gadolinium
brightens areas of the heart, improving the ability to see the heart and blood flow.
- Physical medicine and rehabilitation evaluations to test the child's physical
functioning. These tests include gait evaluation, measurements of the ability to exert
and maintain a constant force, assessment of visual-motor control and fine motor
control, aerobic exercise endurance testing, and measurement of the ability of the
child's heart and lungs to increase their effectiveness with exercise.
- Idebenone/placebo treatment. Patients are given a 6-month supply of either idebenone
pills or placebo (pills that look like the study drug but have no active ingredient) to
take three times a day. Patients are seen by their primary care physician after 1 and 3
months on the study medication for a brief physical examination. In addition, they have
blood and urine tests once a month while on medication to check for any abnormalities.
- 6-month examination. After 6 months on the study drug, patients return to NIH to repeat
all the tests listed above to determine the effects of idebenone treatment.
Phase:
Phase 2
Details
Lead Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)