From the Guidelines
Friedreich ataxia is a rare genetic disorder characterized by progressive difficulty with movement and coordination, caused by mutations in the FXN gene, leading to reduced production of frataxin and resulting in nerve damage and various symptoms. The condition is inherited in an autosomal recessive pattern, meaning a person must inherit two defective copies of the gene (one from each parent) to develop the condition 1. Key features of Friedreich ataxia include:
- Progressive cerebellar dysfunction
- Ataxia
- Scoliosis
- Diabetes mellitus
- Impaired speech
- Loss of vision and hearing
- Cardiac disease, which is the most life-threatening manifestation of the condition 1. The typical age of onset is 5 to 15 years, although later onset also occurs, and the severity of most phenotypic features of Friedreich ataxia is variable 1. Management of Friedreich ataxia focuses on managing symptoms and complications through physical therapy, occupational therapy, speech therapy, and medications to address specific symptoms like heart problems or diabetes.
From the Research
Definition and Overview of Friedreich Ataxia
- Friedreich ataxia (FA) is a progressive, multisystem, degenerative disorder caused by a reduction in frataxin, leading to mitochondrial dysfunction and oxidative damage 2.
- It is characterized by a loss of coordination and balance, among other symptoms, and is often associated with cardiac hypertrophy 3, 2.
Idebenone Treatment in Friedreich Ataxia
- Idebenone, an antioxidant, has been studied as a potential treatment for FA, with some studies suggesting it may reduce the progression of cerebellar manifestations and improve neurological function 4, 2.
- High-dose idebenone has been found to be well-tolerated in patients with FA, with some studies indicating a dose-dependent response in improving neurological function and activities of daily living 3, 2.
- However, not all studies have shown significant improvements in neurological function with idebenone treatment, highlighting the need for further research and larger studies 5.
Key Findings and Studies
- A study published in 2002 found that idebenone treatment at early stages of the disease may reduce the progression of cerebellar manifestations, with significant reduction in ICARS scores after 3 months of treatment 4.
- A 2007 study found that high-dose idebenone was well-tolerated in patients with FA and associated with improvement in neurological function and activities of daily living, with a dose-dependent response 2.
- A phase 3, double-blind, placebo-controlled trial published in 2010 found that idebenone did not significantly alter neurological function in FA during the 6-month study, although larger studies of longer duration may be needed to assess the therapeutic potential of idebenone 5.