IGF-1 in Friedreich's Ataxia - proof-of-concept trial

Cerebellum & Ataxias
Irene Sanz-GallegoJavier Arpa

Abstract

Friedreich's ataxia is an autosomal recessive, severely incapacitating disorder. There is little objective evidence regarding FRDA management. Abnormalities in the insulin/insulin-like growth factor 1 (IGF-1) system (IIS) signalling pathway were thought to play a role in the physiopathological processes of various neurodegenerative disorders, including spinocerebellar ataxias. The objective of the study was to test the safety, tolerability, and efficacy of therapy with IGF-1 in Friedreich's ataxia (FRDA) patients in a clinical pilot study. A total of 4 females and 1 male were included in the study; 23 to 36 years of age (average 26.6 ± 5.4), diagnosed with FRDA with normal ventricular function. Patients were treated with IGF-1 therapy with 50 μg/kg twice a day subcutaneously for 12 months. The efficacy of this therapy was assessed by changes from baseline on the scale for the assessment and rating of ataxia, (SARA) and by changes from baseline in echocardiogram parameters. The annual worsening rate (AWR) was estimated in this series as a SARA score of -0.4 ± 0.83 (CI 95%: -1.28 to 0.48) SARA score, whereas the AWR for our FRDA cohort was estimated as a SARA score of 2.05 ± 1.23 (CI 95%: 1.58 to 2.52). Echocardiographic paramete...Continue Reading

References

Mar 1, 1996·Annals of Neurology·I Torres-AlemanJ Berciano
Oct 17, 1996·The New England Journal of Medicine·A DürrM Koenig
Apr 1, 1997·Nature Genetics·M CosséeM Pandolfo
May 13, 1998·Brain : a Journal of Neurology·T KlockgetherJ Dichgans
Nov 10, 2000·Journal of Medical Genetics·M A PookS Chamberlain
Dec 15, 2000·Neurobiology of Disease·S BusiguinaI Torres-Aleman
Dec 19, 2000·Neuroscience and Biobehavioral Reviews·R J SchulingkampR B Raffa
Feb 26, 2004·Lancet Neurology·Suzanne Craft, G Stennis Watson
Apr 13, 2005·Archives of Neurology·Paul E HartJ Mark Cooper
Apr 23, 2005·The European Journal of Neuroscience·Emilie ColinFrédéric Saudou
Jun 14, 2005·Brain Research. Brain Research Reviews·A M FernandezI Torres-Aleman
Feb 7, 2006·European Journal of Echocardiography : the Journal of the Working Group on Echocardiography of the European Society of Cardiology·Roberto M LangUNKNOWN European Association of Echocardiography, European Society of Cardiology
Feb 10, 2007·Nature Clinical Practice. Neurology·Sub H Subramony
Mar 24, 2007·Blood·Nathalie BoddaertZ Ioav Cabantchik
May 2, 2007·Human Molecular Genetics·Isabella PalazzoloMaria Pennuto
Jan 15, 2008·Trends in Genetics : TIG·Björn SchumacherJan H J Hoeijmakers
Jan 25, 2008·Proceedings of the National Academy of Sciences of the United States of America·Jennifer R GatchelHuda Y Zoghbi
Feb 1, 2008·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Mercè PinedaRafael Artuch
Jul 16, 2008·Proceedings of the National Academy of Sciences of the United States of America·Megan WhitnallDes R Richardson
Nov 26, 2008·Neurology·E J SorensonC A Thornton
Dec 4, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·J M CooperA H V Schapira
Apr 7, 2009·Nature Reviews. Neurology·Jörg B SchulzMassimo Pandolfo
Sep 25, 2010·The Cerebellum·Daniel Velasco-SánchezMercedes Pineda
Oct 21, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Javier ArpaJonas Alex Morales Saute
Mar 12, 2011·American Heart Journal·Sarah J LagedrostDavid R Lynch
Jun 10, 2011·Journal of the Neurological Sciences·Amy Y TsouDavid R Lynch
Oct 9, 2012·Molecular Neurodegeneration·Carolina FrancoIgnacio Torres-Alemán
May 15, 2013·Acta Neurologica Scandinavica·J ArpaM Moreno-Yangüela

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Citations

Dec 5, 2015·Neurodegenerative Disease Management·McKenzie WellsDavid R Lynch
Aug 5, 2016·Journal of Neurology·Antonio CostantiniRoberto Fancellu

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Methods Mentioned

BETA
transgenic

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