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Friedreich Ataxia

Protein-based Assay for Diagnosis and Treatment Monitoring




March 2013

What is Friedreich Ataxia?

Friedreich ataxia is a neurological disorder caused by mutations in the FXN gene encoding a mitochondrial protein, frataxin. The disorder involves damage to the cerebellum, spinal cord, and peripheral nerves that carry signals from the brain and spinal cord to the muscles.

Symptoms of Friedreich Ataxia

In most cases, signs and symptoms appear between the ages of 5 and 15, but may occur as early as 18 months or as late as 30 years of age. The first indication is usually difficulty walking (gait ataxia).

Other signs and symptoms that may develop as the disease progresses include:

  • Progressive loss of movement and coordination
  • Heart disease, including arrhythmia, heart enlargement and heart failure
  • Muscle weakness
  • Skeletal deformities (scoliosis)
  • Vision and/or hearing impairment
  • Diabetes

Because this progression may take years, clinical suspicion of Friedreich ataxia may not occur until several of the signs and symptoms listed above become apparent.

Testing for Friedreich Ataxia

Historically, Friedreich ataxia has been diagnosed by DNA-based testing. However, a molecular-based analysis does not effectively monitor treatment, is not amenable to multiplexing with other disease analytes, nor can it be efficiently utilized for population screening.

In contrast, a protein-based assay measuring concentration of frataxin is suitable for both diagnosis and treatment monitoring in individuals with Friedreich ataxia. This assay is also useful when the clinical suspicion of the disease is present and a clinician wants to include or exclude its possibility in a cost-effective manner.

 
Protein-based Assay
Molecular Testing
Diagnosis
X
X
Treatment monitoring
X
Multiplexing with other disease analytes
X
Population screening
X
Cost-effective inclusion or exclusion in
presence of clinical suspicion
X
Favorable reimbursement status
X
Confirming carrier vs affected status
X

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Clinical Trials

For more information on clinical trials for Friedreich ataxia, visit:


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