Friedreich ataxia (FA) is a rare, inherited neurodegenerative disorder caused by mutations in the FXN gene, leading to a deficiency in the protein frataxin. This deficiency results in progressive damage to the nervous system, particularly affecting the spinal cord and peripheral nerves, and manifests as impaired coordination, muscle weakness, and difficulty with speech. Symptoms typically begin in childhood or adolescence and progressively worsen over time. In addition to neurological symptoms, individuals with FA often experience hypertrophic cardiomyopathy, a thickening of the heart muscle, which can be life-threatening, and some may develop diabetes mellitus due to the effect on the pancreas.
What is the Program?
Sponsored by Biogen, this program provides no-cost genetic testing for Friedreich ataxia(FA), a neurodegenerative disease characterized by progressive ataxia (ataxic gait and limbs), dysarthria, dysphagia, decreased proprioception, distal muscle weakness, peripheral sensory neuropathy, absent lower limb tendon reflexes, spasticity, scoliosis, pes cavus, and hypertrophic cardiomyopathy. No-cost FA testing is available for patients 16 years of age or older, suspected of or have a clinical diagnosis of FA, and be a resident of the United States or Puerto Rico. The test must be ordered by a qualified healthcare provider.
Candidates for this test are patients in the United States and Puerto Rico with a suspected or clinical diagnosis of FA and are 16 years of age or older.
Collect a specimen in the collection tube. For information about ordering specimen kits, see Specimen Collection and Shipping section
Program Information
The FA Identified program is a sponsored genetic testing initiative aimed at diagnosing Friedreich’s ataxia, a genetic neurodegenerative disorder characterized by progressive damage to the nervous system. It provides comprehensive genetic testing to identify mutations in the FXN gene, which are responsible for this condition.
Individuals exhibiting symptoms consistent with Friedreich’s ataxia or those who have a family history suggesting a risk of inheriting the disorder are eligible for this program. A healthcare provider’s referral is necessary to access the testing services.
The program focuses on analyzing the FXN gene to detect expansions of the GAA trinucleotide repeat, which is the primary genetic mutation associated with Friedreich’s ataxia. This specific testing helps in confirming the diagnosis and assessing disease severity.
Healthcare providers can enroll patients by submitting an application that includes the patient’s detailed medical history, clinical presentation indicative of Friedreich’s ataxia, and necessary consent forms. This application ensures the appropriateness of genetic testing for each case.
Participants gain crucial insights into the specific genetic mutations causing their condition, which can guide clinical management and treatment strategies. Additionally, a confirmed genetic diagnosis can be valuable for family planning and understanding the risk to other family members.
Genetic testing results are generally available within a few weeks from the time the laboratory receives the sample. This timeline allows for precise and careful genetic analysis, ensuring that the results are accurate and helpful for clinical decision-making.
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SKYCLARYS® (omaveloxolone) is an oral, once-daily medication indicated for the treatment of Friedreich’s ataxia (FA) in adults and adolescents aged 16 years and older in the U.S. and European Union. SKYCLARYS received Orphan Drug, Fast Track, and Rare Pediatric Disease Designations from the U.S. Food and Drug Administration. The European Commission granted Orphan Drug designation in Europe to SKYCLARYS for the treatment of FA.
