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FARA Funded Research

Your generous support has funded all the research listed below.

For more information on FARA-funded research & scientists, please visit FARA Supported Research, Active Clinical Trials and the Featured Scientist.

Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's AtaxiaExample

Friedreich's ataxia (FRDA) represents a rare neurodegenerative disease caused by expansion of GAA trinucleotide repeats in the first intron of the FXN gene. The number of GAA repeats in FRDA patients varies from approximately 60 to <1000 and is tightly correlated with age of onset and severity of the disease symptoms. The heterogeneity of Friedreich's ataxia stresses the need for a large cohort of patient samples to conduct studies addressing the mechanism of disease pathogenesis or evaluate novel therapeutic candidates. Herein, we report the establishment and characterization of an FRDA fibroblast repository, which currently includes 50 primary cell lines derived from FRDA patients and seven lines from mutation carriers

Read the entire article HERE

Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia

Friedreich ataxia is an autosomal recessive disease with no available therapy. Clinical trials with erythropoietin in Friedreich ataxia patients have yielded conflicting results, and the long-term effect of the drug remains unknown.

METHODS: We designed a double-blind, placebo-controlled, multicenter trial to test the efficacy of epoetin alfa on 56 patients with Friedreich ataxia. The primary endpoint of the study was the effect of epoetin alfa on peak oxygen uptake (VO2 max) at the cardiopulmonary exercise test. Secondary endpoints were frataxin levels in peripheral blood mononuclear cells, improvement in echocardiography findings, vascular reactivity, neurological progression, upper limb dexterity, safety, and quality of life. Epoetin alfa or placebo (1:1 ratio) was administered subcutaneously at a dose of 1200 IU/Kg of body weight every 12 weeks for 48 weeks.

Read the entire article HERE

Gene transfer of brain derived neurotrophic factor (BDNF) prevents neurodegeneration triggered by frataxin deficiency

This study is an investigation of the effect of gene transfer of brain-derived neurotrophic factor (BDNF) on Friedreich's Ataxia neurons and in a mouse model of Friedreich's Ataxia. Gene transfer of BDNF to primary cultures of mouse neurons prevented cell death triggered by the knockdown of frataxin. The injection of a vector carrying a gene encoding for a frataxin-specific shRNA into the mouse cerebellar cortex triggered a frataxin deficit, which is accompanied by significant death of specific cell types. These pathological changes were accompanied by a loss of motor coordination of mice. Co-injection of the vector encoding for BDNF prevented both the development of ataxia and the pathologies that could be seen in certain areas of the brain. These data demonstrate the potential for neurotrophins like BDNF to protect frataxin-deficient neurons from degeneration.

Read the entire article HERE

Activating frataxin expression by repeat-targeted nucleic acids

Friedreich's ataxia is a genetic disorder caused by a mutant expansion of the trinucleotide GAA within an intronic FXN RNA. This expansion leads to reduced expression of frataxin (FXN) protein and evidence suggests that transcriptional repression is caused by a specific structure, called and R-loop, that forms between the expanded repeat RNA and complementary genomic DNA. Synthetic agents that increase levels of FXN protein might alleviate the disease. We demonstrate that introducing specific oligonucleotide molecules into patient-derived cells increases FXN protein expression to levels similar to that in cells from unaffected individuals. Our data are significant because synthetic nucleic acids that target GAA repeats can be lead compounds for restoring curative FXN levels.

Read the entire article HERE

Friedreich Ataxia and nephrotic syndrome: a series of two patients

This paper describes two patients with FRDA also presenting with nephrotic syndrome (NS). The first patient was diagnosed with FRDA at age 5 and NS at age 7 following the development of periorbital edema, abdominal swelling, problems with urination, and weight gain. The second patient was diagnosed with NS at age 2 after presenting with periorbital edema, lethargy, and abdominal swelling. He was diagnosed with FRDA at age 10. Nephrotic syndrome was confirmed by laboratory testing in both cases and both individuals were treated with corticosteroids.

The authors conclude that nephrotic syndrome may occur in individuals with FRDA, but was not associated with myoclonic epilepsy in our patients as previously described. It is unlikely that this association is coincidental given the rarity of both conditions and the association of NS with mitochondrial disease in model systems, though coincidental coexistence is possible.

This paper also includes a description of experience with corticosteroid treatment in additional individuals with FA who either had been misdiagnosed or had other conditions that necessitated such treatment.

Read the entire article HERE

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