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First received: July 03, 2024

Clinical Trial: Measurement of Frataxin mRNA in Biofluids

Study Status: COMPLETED

Recruit Status: COMPLETED

Condition: Friedreich Ataxia

Study Type: OBSERVATIONAL


Official Title: Measurement of Frataxin mRNA in NHP and Human Biofluids in Patients With Friedreich's Ataxia

Brief Summary: The purpose of this research study is to determine a way to measure frataxin messenger RNA (mRNA) in fluids such as blood and cerebrospinal fluid (CSF) from patients with Friedreich's ataxia (FRDA).The gene mutation in FRDA leads to low levels of the mRNA and then low levels of the protein frataxin that leads to the disease.Treatments being developed for FRDA have the ability increase these levels including in brain where it is needed.Currently, there is no accepted way to measure frataxin protein or the…

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