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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.

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

Pathology of Intercalated Discs in Friedreich Cardiomyopathy

Friedreich ataxia (FA) is best known for its neurological phenotype, but the most common cause of death is heart disease. This paper describes the FA heart based on studies from post-mortem tissue. The pathogenesis of FA cardiomyopathy includes failure to clear iron from myocytes, chronic inflammation, fiber necrosis, and scarring. On cross section, heart fibers are significantly enlarged and excessively lobulate. In the longitudinal dimension, the pathogenesis also involves modifications of intercalated discs (ICDs), the plasma membrane specializations that connect heart fibers end-to-end. The authors show that some of the unusual features of the FA heart likely precede active cardiac disease, and may or may not be able to be resolved by increasing frataxin later in disease.

Read the entire article HERE

FARA Announces Catabasis Pharmaceuticals as the Recipient of the Kyle Bryant Translational Research Award to Evaluate CAT-4001 as a Potential Therapy for Friedreich’s Ataxia

Downingtown, PA and Cambridge, MA (January 19, 2016) - The Friedreich’s Ataxia Research Alliance (FARA) and Catabasis Pharmaceuticals, Inc. (NASDAQ:CATB) announce that Catabasis Pharmaceuticals is the recipient of the Kyle Bryant Translational Research Award. Catabasis is a clinical-stage drug development company built on a pathway pharmacology technology platform. The two year award will be for the Evaluation of CAT-4001 in Frataxin-deficient mouse models and dorsal root ganglia neurons to enable its therapeutic development for Friedreich's ataxia. This work will be led by Dr. Andrew Nichols at Catabasis along with collaborators Dr. Mark Payne at Indiana University and Dr. Jordi Magrane at Weill Cornell College of Medicine who are expected to perform testing in the Friedreich’s ataxia (FA) animal models.

Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia

This is a large international, collaborative study that reviews both the clinical and frataxin protein differences among 111 individuals with FA who are compound heterozygous for a point mutation on one gene and a GAA repeat expansion on the other FXN gene. Frataxin mutations were examined using structural modeling, stability analyses and systematic literature review. Mean age of onset and the presence of cardiomyopathy and diabetes mellitus were compared using regression analyses. In compound heterozygotes, expression of partially functional mutant frataxin delays age of onset and reduces diabetes mellitus, compared to those with no frataxin expression from the non-expanded allele. This integrated analysis of categorized frataxin mutations and their correlation with clinical outcome provides a definitive resource for investigating disease pathogenesis in FRDA.

Read more here:

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