International patient advocates partner to fund Spanish gene-therapy project to treat Friedreich's ataxia

International patient advocates partner to fund Spanish gene-therapy project to treat Friedreich's ataxia

January 28, 2014

Scientists at the Institute for Research in Biomedicine (IRB) and the “Centro de Biología Molecular Severo Ochoa” (CBMSO) launched the project two months ago.

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

The support provided by FARA will account for 50% of the project budget of 300,000 euros. Of note, FARA’s funds come from the support of patient families and communities raising funds at a grassroots level and from other International advocates such as FARA – Ireland.

FARA (Friedreich's Ataxia Research Aliance) Press Release
IRB (Institute for Research in Biomedicine) Press Release

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When homozygously present, an increased number of GAA repeats in the FXN gene results in a severely decreased expression of frataxin, resulting in the manifestation of FRDA. However, even heterozygous expansion of the trinucleotide repeat substantially reduces frataxin expression. Heterozygous expansion carriers are usually normal, but still display an increased risk for pathological glucose tolerance and, thus suggesting that a heterozygous FXN mutation leads to a borderline impairment of specific cell types at risk.

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Keywords: Frataxin measurements, peripheral tissues, patients, carriers.

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Full Text, Open access

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This experience in SMA raises interesting questions for FRDA. Does such a threshold also exist in FRDA models, where no or too low frataxin results in embryonic lethality, but levels of 10% or more result in mice that are phenotypcially normal? Can mice simply tolerate low levels of frataxin? Alternatively, perhaps FRDA is not just a disease of low frataxin protein, but insread is one in which the GAA repeat itself plays a greater role in the disease course, beyond just inhibiting transcription. Would mouse models of higher repeat length or uninterupted repeats produce a more robust phenotype? Additional FRDA models are desperately needed in order to help address these questions.

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