ELX-02 : an investigational read-through agent for the treatment of nonsense mutation-related genetic disease
INTRODUCTION: ELX-02, an investigational compound that is structurally an aminoglycoside analog, induces read-through of nonsense mutations through interaction with the ribosome, through which full-length functional proteins can be produced. It is being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis (CF) and nephropathic cystinosis. In Phase 1 clinical trials, 105 volunteers were exposed to ELX-02. To date, ELX-02 is well tolerated and there has been no reported treatment-related serious adverse events or deaths.
AREAS COVERED: The development of this molecule, from its pharmacology to the ongoing Phase 2 clinical trials is discussed.
EXPERT OPINION: Globally, nonsense mutations account for ~11% of all described gene lesions causing inherited monogenetic diseases. In CF and nephropathic cystinosis, they comprise from 10% to 12% of the disease-causative alleles. ELX-02 is in development as a therapeutic for patients with these alleles as in vitro and in vivo data demonstrated dose-dependent read-through of nonsense mutations to produce full-length, functional proteins. Since read-through efficiency varies between alleles and mRNA context, careful consideration of target patient populations is required. The results to date support the ongoing Phase 2 clinical evaluations of ELX-02 as a read-through agent.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:29 |
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| Enthalten in: |
Expert opinion on investigational drugs - 29(2020), 12 vom: 24. Dez., Seite 1347-1354 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Kerem, Eitan [VerfasserIn] |
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| Links: |
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| Themen: |
Cf transmembrane conductance regulator (CFTR) gene |
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| Anmerkungen: |
Date Completed 17.03.2021 Date Revised 18.04.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1080/13543784.2020.1828862 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM315430818 |
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| 520 | |a INTRODUCTION: ELX-02, an investigational compound that is structurally an aminoglycoside analog, induces read-through of nonsense mutations through interaction with the ribosome, through which full-length functional proteins can be produced. It is being developed as a therapy for genetic diseases caused by nonsense mutations such as cystic fibrosis (CF) and nephropathic cystinosis. In Phase 1 clinical trials, 105 volunteers were exposed to ELX-02. To date, ELX-02 is well tolerated and there has been no reported treatment-related serious adverse events or deaths | ||
| 520 | |a AREAS COVERED: The development of this molecule, from its pharmacology to the ongoing Phase 2 clinical trials is discussed | ||
| 520 | |a EXPERT OPINION: Globally, nonsense mutations account for ~11% of all described gene lesions causing inherited monogenetic diseases. In CF and nephropathic cystinosis, they comprise from 10% to 12% of the disease-causative alleles. ELX-02 is in development as a therapeutic for patients with these alleles as in vitro and in vivo data demonstrated dose-dependent read-through of nonsense mutations to produce full-length, functional proteins. Since read-through efficiency varies between alleles and mRNA context, careful consideration of target patient populations is required. The results to date support the ongoing Phase 2 clinical evaluations of ELX-02 as a read-through agent | ||
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