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Year Number of Results
1973 1
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1977 1
1978 3
1979 2
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1984 1
1985 1
1989 1
1990 1
1991 1
1993 1
1995 1
1996 1
1998 1
1999 5
2000 1
2001 5
2002 2
2003 5
2004 6
2005 3
2006 4
2007 8
2008 3
2009 6
2010 8
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2012 9
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2014 7
2015 7
2016 15
2017 8
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2019 10
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2022 12
2023 5

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175 results

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Page 1
Clinical evidence of interventions assessed in Friedreich ataxia: a systematic review.
Jain P, Badgujar L, Spoorendonk J, Buesch K. Jain P, et al. Ther Adv Rare Dis. 2022 Nov 29;3:26330040221139872. doi: 10.1177/26330040221139872. eCollection 2022 Jan-Dec. Ther Adv Rare Dis. 2022. PMID: 37180421 Free PMC article. Review.
OBJECTIVES: The rare inherited autosomal recessive disease Friedreich ataxia (FA) causes progressive neurodegenerative changes and disability in patients. ...A systematic review investigating the effectiveness and safety of treatments for Friedreich ataxia …
OBJECTIVES: The rare inherited autosomal recessive disease Friedreich ataxia (FA) causes progressive neurodegenerative changes …
Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's Ataxia.
Indelicato E, Kirchmair A, Amprosi M, Steixner S, Nachbauer W, Eigentler A, Wahl N, Apostolova G, Krogsdam A, Schneider R, Wanschitz J, Trajanoski Z, Boesch S. Indelicato E, et al. Hum Mol Genet. 2023 Apr 7:ddad051. doi: 10.1093/hmg/ddad051. Online ahead of print. Hum Mol Genet. 2023. PMID: 37027192
OBJECTIVE: In Friedreich s Ataxia (FRDA), the most affected tissues are not accessible to sampling and available transcriptomic findings originate from blood-derived cells and animal models. ...METHODS: Skeletal muscle biopsies were collected from seven FRDA patient …
OBJECTIVE: In Friedreich s Ataxia (FRDA), the most affected tissues are not accessible to sampling and available transcriptomi …
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.
Thornton CA, Moxley RT 3rd, Eichinger K, Heatwole C, Mignon L, Arnold WD, Ashizawa T, Day JW, Dent G, Tanner MK, Duong T, Greene EP, Herbelin L, Johnson NE, King W, Kissel JT, Leung DG, Lott DJ, Norris DA, Pucillo EM, Schell W, Statland JM, Stinson N, Subramony SH, Xia S, Bishop KM, Bennett CF. Thornton CA, et al. Lancet Neurol. 2023 Mar;22(3):218-228. doi: 10.1016/S1474-4422(23)00001-7. Lancet Neurol. 2023. PMID: 36804094 Clinical Trial.
METHODS: In this dose-escalation phase 1/2a trial, adults aged 20-55 years with myotonic dystrophy type 1 were enrolled at seven tertiary referral centres in the USA and randomly assigned via an interactive web or phone response system to subcutaneous …
METHODS: In this dose-escalation phase 1/2a trial, adults aged 20-55 years with myotonic dystrophy type 1 were enrolled …
Omaveloxolone: an activator of Nrf2 for the treatment of Friedreich ataxia.
Profeta V, McIntyre K, Wells M, Park C, Lynch DR. Profeta V, et al. Expert Opin Investig Drugs. 2023 Jan;32(1):5-16. doi: 10.1080/13543784.2023.2173063. Epub 2023 Feb 8. Expert Opin Investig Drugs. 2023. PMID: 36708320
INTRODUCTION: Friedreich ataxia (FRDA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dysarthria, diabetes, cardiomyopathy, scoliosis, and occasionally vision loss in late-stage disease. ...Omaveloxolone, a nuclear factor erythro …
INTRODUCTION: Friedreich ataxia (FRDA) is a rare autosomal recessive degenerative disorder characterized by ataxia, dys …
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).
Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry PG, Joers J, Lenglet C, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual S, Van den Eede D, Martin-Ugarte I, Vilà-Brau A, Mantilla A, Pascual M, Martinell M, Meya U, Durr A. Pandolfo M, et al. Neurol Genet. 2022 Nov 1;8(6):e200034. doi: 10.1212/NXG.0000000000200034. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36524101 Free PMC article.
BACKGROUND AND OBJECTIVES: Friedreich ataxia (FRDA) is an autosomal recessive ataxia with no approved treatments. ...We assessed effects of leriglitazone in patients with FRDA in a proof-of-concept study. METHODS: In this double-blind, randomized contr …
BACKGROUND AND OBJECTIVES: Friedreich ataxia (FRDA) is an autosomal recessive ataxia with no approved treatments. ...We …
Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.
Lynch DR, Mathews KD, Perlman S, Zesiewicz T, Subramony S, Omidvar O, Vogel AP, Krtolica A, Litterman N, van der Ploeg L, Heerinckx F, Milner P, Midei M. Lynch DR, et al. J Neurol. 2023 Mar;270(3):1615-1623. doi: 10.1007/s00415-022-11501-4. Epub 2022 Dec 3. J Neurol. 2023. PMID: 36462055 Clinical Trial.
OBJECTIVES: Friedreich ataxia is (FRDA) an autosomal recessive neurodegenerative disorder associated with intrinsic oxidative damage, suggesting that decreasing lipid peroxidation (LPO) might ameliorate disease progression. ...INTERPRETATIONS: The results of this st …
OBJECTIVES: Friedreich ataxia is (FRDA) an autosomal recessive neurodegenerative disorder associated with intrinsic oxidative …
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Meyer CJ. Lynch DR, et al. Mov Disord. 2023 Feb;38(2):313-320. doi: 10.1002/mds.29286. Epub 2022 Nov 29. Mov Disord. 2023. PMID: 36444905 Clinical Trial.
BACKGROUND: MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive neurological disease with no proven therapy. MOXIe part 2, a randomized double-blind placebo-controlled tri …
BACKGROUND: MOXIe was a two-part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia …
A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.
Georgiou-Karistianis N, Corben LA, Reetz K, Adanyeguh IM, Corti M, Deelchand DK, Delatycki MB, Dogan I, Evans R, Farmer J, França MC, Gaetz W, Harding IH, Harris KS, Hersch S, Joules R, Joers JJ, Krishnan ML, Lax M, Lock EF, Lynch D, Mareci T, Muthuhetti Gamage S, Pandolfo M, Papoutsi M, Rezende TJR, Roberts TPL, Rosenberg JT, Romanzetti S, Schulz JB, Schilling T, Schwarz AJ, Subramony S, Yao B, Zicha S, Lenglet C, Henry PG. Georgiou-Karistianis N, et al. PLoS One. 2022 Nov 21;17(11):e0269649. doi: 10.1371/journal.pone.0269649. eCollection 2022. PLoS One. 2022. PMID: 36410013 Free PMC article. Clinical Trial.
INTRODUCTION: Drug development for neurodegenerative diseases such as Friedreich's ataxia (FRDA) is limited by a lack of validated, sensitive biomarkers of pharmacodynamic response in affected tissue and disease progression. ...Once validated, these potential pharma …
INTRODUCTION: Drug development for neurodegenerative diseases such as Friedreich's ataxia (FRDA) is limited by a lack of valid …
An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich's ataxia.
Kemp KC, Georgievskaya A, Hares K, Redondo J, Bailey S, Rice CM, Scolding NJ, Metcalfe C, Wilkins A. Kemp KC, et al. Nat Commun. 2022 Aug 9;13(1):4655. doi: 10.1038/s41467-022-31450-w. Nat Commun. 2022. PMID: 35945193 Free PMC article. Clinical Trial.
Friedreich's ataxia (FA) is an inherited progressive neurodegenerative disease for which there is no proven disease-modifying treatment. ...Notably, sustained increases in cellular frataxin concentrations and raised PGC-1alpha and Nrf2 expression are detected. Our f …
Friedreich's ataxia (FA) is an inherited progressive neurodegenerative disease for which there is no proven disease-modifying …
Friedreich ataxia: clinical features and new developments.
Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR. Keita M, et al. Neurodegener Dis Manag. 2022 Oct;12(5):267-283. doi: 10.2217/nmt-2022-0011. Epub 2022 Jun 29. Neurodegener Dis Manag. 2022. PMID: 35766110 Review.
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affects 1 in 50,000-100,000 individuals in the USA. ...Finally, new perspectives on the neuroanatomy of FRDA and its developmental features …
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other neurological features, affect …
175 results