| Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation |
2012 |
Case report |
Takahashi et al.7878 Takahashi R, Ikeda T, Hamaguchi A, Iwasa K, Yamada M. Coenzyme Q10 therapy in hereditary motor sensory neuropathy type VI with novel mitofusin 2 mutation. Intern Med 2012;51(07): 791–793
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| Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 overexpression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy |
2014 |
Preclinical |
Chumakov et al.6262 Chumakov I, Milet A, Cholet N, et al. Polytherapy with a combination of three repurposed drugs (PXT3003) down-regulates Pmp22 over-expression and improves myelination, axonal and functional parameters in models of CMT1A neuropathy. Orphanet J Rare Dis 2014;9(01):201
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| PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models |
2017 |
Preclinical |
Zhao et al.6868 Zhao HT, Damle S, Ikeda-Lee K, et al. PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. J Clin Invest 2018;128(01):359–368
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| MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A |
2018 |
Preclinical |
Rocha et al.8080 Rocha AG, Franco A, Krezel AM, et al. MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A. Science 2018;360(6386):336–341
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| Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A) |
2019 |
Preclinical |
Prukop et al.6363 Prukop T, Stenzel J, Wernick S, et al. Early short-term PXT3003 combinational therapy delays disease onset in a transgenic rat model of Charcot-Marie-Tooth disease 1A (CMT1A). PLoS One 2019;14(01):e0209752
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| Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X. |
2019 |
Preclinical |
Kagiava et al.7676 Kagiava A, Richter J, Tryfonos C, et al. Gene replacement therapy after neuropathy onset provides therapeutic benefit ina model of CMT1X. Hum Mol Genet 2019;28(21):3528–3542
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| Curcumin–cyclodextrin/cellulose nanocrystals improve the phenotype of Charcot-Marie-Tooth-1A transgenic rats through the reduction of oxidative stress |
2020 |
Preclinical |
Caillaud et al.7070 Caillaud M, Msheik Z, Ndong-Ntoutoume GMA, et al. Curcumin-cyclodextrin/cellulose nanocrystals improve the phenotype of Charcot-Marie-Tooth-1A transgenic rats through the reduction of oxidative stress. Free Radic Biol Med 2020;161:246–262
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| Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice |
2020 |
Preclinical |
Lee et al.6969 Lee JS, Lee JY, Song DW, et al. Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice. Nucleic Acids Res 2020;48 (01):130–140
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| AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A |
2021 |
Preclinical |
Gautier et al.7171 Gautier B, Hajjar H, Soares S, et al. AAV2/9-mediated silencing of PMP22 prevents the development of pathological features in a rat model of Charcot-Marie-Tooth disease 1 A. Nat Commun 2021;12 (01):2356
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| A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A |
2021 |
Phase III |
Attarian et al.6565 Attarian S, Young P, Brannagan TH, et al. A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A. Orphanet J Rare Dis 2021;16(01): 433
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| Treatment with IFB-088 improves neuropathy in CMT1A and CMT1B mice |
2022 |
Preclinical |
Bai et al.7272 Bai Y, Treins C, Volpi VG, et al. Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice. Mol Neurobiol 2022;59 (07):4159–4178
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