Sunday, July 10, 2022

HTA decision-making for drugs for rare diseases: comparison of processes across countries

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Tania Stafinski, Judith Glennie, Andrea Young & Devidas Menon; Orphanet J Rare Dis 17, 258 (2022). doi:10.1186/s13023-022-02397-4  There...
Thursday, July 7, 2022

A Phase 1/2 Study of the Safety and Efficacy of LX2006 Gene Therapy in Participants With Cardiomyopathy Associated With Friedreich's Ataxia

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ClinicalTrials.gov Identifier: NCT05445323; Sponsor: Lexeo Therapeutics Intervention/treatment:  Genetic: Low dose LX2006 Adeno-associated ...
Wednesday, July 6, 2022

Large-scale expansions of Friedreich′s ataxia GAA·TTC repeats in human cells are prevented by LNA-DNA oligonucleotides and PNA oligomers

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Anastasia Rastokina, Negin Mozafari, Jorge Cebrian, Edvard Smith, Sergei M. Mirkin, Rula Zain; bioRxiv 2022.07.04.498742; doi:10.1101/2022.0...
Tuesday, July 5, 2022

Efficacy of plant extracts against Friedreich’s ataxia

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Magisetty Obulesu, Plant Extracts in Neurodegenerative Diseases, Academic Press, Chapter 4, Pages 47-60, 2022, doi:10.1016/B978-0-323-95762-...
Sunday, July 3, 2022

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study

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Balakrishnan S, Aggarwal S, Muthulakshmi M, Meena AK, Borgohain R, Mridula KR, Yareeda S, Ranganath P, Dalal A.  Neurol India 2022;70:934-42...
Saturday, July 2, 2022

Safety and pharmacokinetics of a highly bioavailable resveratrol preparation (JOTROL TM)

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Kemper, Christopher; Benham, Dariush; Brothers, Shaun; Wahlestedt, Claes; Volmar, Claude-Henry; Bennett, Daniel; et al. (2022). figshare. Co...
Wednesday, June 29, 2022

Friedreich ataxia: clinical features and new developments

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Medina Keita, Kellie McIntyre, Layne N Rodden, Kim Schadt, and David R Lynch; Neurodegenerative Disease Management 0 0:0. Published Online:2...
Wednesday, June 22, 2022

What role can decentralized trial designs play to improve rare disease studies?

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Moore, J., Goodson, N., Wicks, P. et al.; Orphanet J Rare Dis 17, 240 (2022). doi:10.1186/s13023-022-02388-5 DCT approaches have been shown ...
Monday, June 20, 2022

Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review

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Lew, S.Y.; Phang, M.W.L.; Chong, P.S.; Roy, J.; Poon, C.H.; Yu, W.S.; Lim, L.W.; Wong, K.H.; Pharmaceuticals 2022, 15, 764. doi:10.3390/ph15...
Sunday, June 19, 2022

Advantages and Limitations of Gene Therapy and Gene Editing for Friedreich’s Ataxia

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Sivakumar A and Cherqui S (2022); Front. Genome Ed. 4:903139. doi: 10.3389/fgeed.2022.903139 Recent research on in vivo and ex vivo gene the...