An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich's ataxia

Kevin C Kemp, Anastasia Georgievskaya, Kelly M Hares, Juliana Redondo, Steven Bailey, Claire M Rice, Neil J Scolding, Chris Metcalfe, Alastair Wilkins*

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review


Friedreich’s ataxia (FA) is an inherited progressive neurodegenerative disease for which there is no proven disease-modifying treatment. Here we perform an open-label, pilot study of recombinant human granulocyte-colony stimulating factor (G-CSF) administration in seven people with FA (EudraCT: 2017-003084-34); each participant receiving a single course of G-CSF (Lenograstim; 1.28 million units per kg per day for 5 days). The primary outcome is peripheral blood mononuclear cell frataxin levels over a 19-day period. The secondary outcomes include safety, haematopoietic stem cells (HSC) mobilisation, antioxidant levels and mitochondrial enzyme activity. The trial meets pre-specified endpoints. We show that administration of G- CSF to people with FA is safe. Mobilisation of HSCs in response to G-CSF is comparable to that of healthy individuals. Notably, sustained increases in cellular frataxin concentrations and raised PGC-1α and Nrf2 expression are detected. Our findings show potential for G-CSF therapy to have a clinical impact in people with FA.
Original languageEnglish
JournalNature Communications
Publication statusAccepted/In press - 30 Nov 2020

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