- |||||||||| Review, Journal: From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome. (Pubmed Central) - Jan 28, 2026
Novel strategies such as exon skipping, gene editing, and nonsense mutation readthrough (e.g., ELX-02) are advancing toward precision medicine approaches as disease modifying agents targeting the genetic cause of AS...This review summarizes the current landscape of AS classification and treatment, highlighting both standard interventions and experimental therapies. Emphasis is placed on the molecular mechanisms underlying podocyte injury and fibrosis, recent preclinical findings, and ongoing clinical trials that may shift future therapeutic paradigms.
- |||||||||| exaluren (ELX-02) / Eloxx Pharma
Journal: Ribosomal readthrough as an alternative therapy for hemophilia patients with nonsense mutations. (Pubmed Central) - Jan 7, 2026 Emphasis is placed on the molecular mechanisms underlying podocyte injury and fibrosis, recent preclinical findings, and ongoing clinical trials that may shift future therapeutic paradigms. Ribosomal read through therapy offers a promising small-molecule treatment option for managing bleeding symptoms in patients with hemophilia A based on individual mutation profiles.
- |||||||||| Translarna (ataluren) / PTC Therap, exaluren (ELX-02) / Eloxx Pharma
Evaluating ribosomal readthrough as a precision medicine strategy for restoring factor VIII expression in hemophilia a (OCCC - West Halls B3-B4) - Nov 4, 2025 - Abstract #ASH2025ASH_8148; Both aminoglycoside andnon-aminoglycoside compounds can restore partial FVIII expression in a mutation-specific manner. Theseresults support the further development of readthrough-based therapies as a cost-effective andaccessible treatment option for a subset of severe HA patients, potentially reducing their dependence onconventional replacement therapies.
- |||||||||| Development of a drug testing platform for CFTR premature termination codon variants based on rectal organoids () - Sep 4, 2024 - Abstract #NACFC2024NACFC_1011;
Incubation with the aminoglycoside G418, as expected from the literature, caused a significantly greater in FIS rate than control (vehicle) and ELX-02 or PTC124, with further improvement in combination with CFTR modulators (elexacaftor/tezacaftor/ivacaftor [ETI]). Our preliminary data indicate that the levels of swelling induced by G418+ETI reached reference AUC values of F508del/F508del organoids treated with VX809/ VX770 (mean 2,487.9
- |||||||||| exaluren (ELX-02) / Eloxx Pharma
A novel induced pluripotent stem cell-derived intestinal organoid protocol to assess CF therapies () - Sep 4, 2024 - Abstract #NACFC2024NACFC_946; This work represents the next generation of intestinal differentiation from iPSCs and focuses on advancing therapies for rare and nonsense CFTR variants. We generated and validated an isogenic panel of iPSC intestinal organoids with PTC-CFTR mutations and have begun exploring potential curative strategies including SuperExon approaches.
- |||||||||| lumacaftor (VX-809) / Vertex, exaluren (ELX-02) / Eloxx Pharma, eragidomide (CC-90009) / BMS
Rescue of CFTR nonsense mutations is enhanced under inflammatory stimuli (157 A-C) - Jul 4, 2024 - Abstract #NACFC2024NACFC_549; Overall, readthrough at seven CF-causing PTCs yielded 12 variant CFTR protein possibilities. Cells were also treated in the last 24 hours with ELX-02 (200
- |||||||||| exaluren (ELX-02) / Eloxx Pharma
Enrollment open, Trial initiation date: A Study of ELX-02 in Patients With Alport Syndrome (clinicaltrials.gov) - Nov 25, 2022 P2, N=8, Recruiting, Therefore, ELX-02 may offer a novel and safe therapy for RDEB and JEB and other inherited skin diseases caused by PTC mutations. Not yet recruiting --> Recruiting | Initiation date: Jul 2022 --> Nov 2022
- |||||||||| exaluren (ELX-02) / Eloxx Pharma
Investigational Therapy of Alport Syndrome With ELX-02 (Exhibit Hall, Orange County Convention Center, West Building) - Oct 13, 2022 - Abstract #KIDNEYWEEK2022KIDNEY_WEEK_1194; 2) ELX-02 shows nonsense mutation readthrough across a range of nonsense mutations in Alport Syndrome. 3) PBPK modeling shows high levels of ELX-02 exposures can be achieved in the kidneys even at doses below those currently being used in clinical trials.
- |||||||||| Trikafta (elexacaftor/tezacaftor/ivacaftor) / Vertex
Simultaneous quantification of elexacaftor/tezacaftor/ivacaftor using reverse-phase high-performance liquid chromatography (Exhibition Hall) - Oct 8, 2022 - Abstract #NACFC2022NACFC_1217; This assay will allow for high-throughput analysis usingpeak height HPLC analysis of serum samples from people with CF receivingELX/TEZ/IVA. Our method allows for high throughput of patient samplesand short turnaround time and provides clinicians with an adaptiveresource for managing the doses of people with CF.691 Synthetic aminoglycoside ELX-02 induces readthrough of cystic fibrosistransmembrane conductance regulator –G550X, producing super- functional protein that can be further enhanced by cystic fibrosistransmembrane conductance regulator correctors
- |||||||||| Sivextro (tedizolid) / Merck (MSD), Nabriva Therap, exaluren (ELX-02) / Eloxx Pharma, eragidomide (CC-90009) / BMS
Sensitized high-throughput screening for translational readthrough promoters in the context of the native cystic fibrosis transmembrane conductance regulator R1162X gene (Exhibition Hall) - Oct 8, 2022 - Abstract #NACFC2022NACFC_1165; We also developed biochemical assays (enzyme-linked immunosorbent assay and westernblotting) to evaluate biochemical readthrough of native PTC CFTRconstructs and performed functional measurements in the electrophysio-logical (TECC-24) equivalent current assay.We determined that the 16HBEge R1162X CFTR cell line was themost sensitive cell model for readthrough when treated with aminoglyco-sides and eRF degraders, achieving 20% of wild-type CFTR proteinexpression levels for ELX-02/CC-90009 combination treatments...Our most efficacious hit compound (tedizolid) is a ribosomalmodulator of the oxazolidinone class...Together, our data strongly support that the combination ofeRF3a degraders and ribosomal modulators is an efficient approach topharmacological readthrough of CFTR PTCs. In addition, we demonstratethat our high-throughput screen in a cell model that accounts for allrelevant biology in the context of premature translation termination (CFTRpre-messenger ribonucleic acid splicing, nonsense-mediated messengerribonucleic acid decay) can be a viable approach to identify additionalagents with efficient readthrough promoting activity.
- |||||||||| elexacaftor (VX-445) / Vertex, tezacaftor (VX-661) / Vertex, exaluren (ELX-02) / Eloxx Pharma
Alternate start site M265 allows 5' nonsense variants to escape NMD so that readthrough and modulators can restore CFTR function (Hall B- TPS Theater) - Oct 8, 2022 - Abstract #NACFC2022NACFC_1153; Downstream translation initiation of 5 ′nonsense variants occurs at M265, resulting in stable CFTRtranscript. Thus, triple combin- ation therapy combined with readthrough may be a suitable treatmentoption for 5′CFTRvariants that evade NMD.599 iPSC-derived airway basal cells that exhibit increased competence formultipotent differentiation
- |||||||||| exaluren (ELX-02) / Eloxx Pharma
Journal: Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination. (Pubmed Central) - Sep 24, 2022 We investigate this using two cell line models expressing CFTR-expression minigenes (EMG; HEK293s and CFBEs) and primary human nasal epithelial (NE) cells, and we test readthrough compounds G418 and ELX-02 in combination with CFTR protein modulators...Our work indicates that N-terminal variants generate stable CFTR transcript due to translation initiation at a downstream AUG codon. Thus, individuals with CF bearing 5' nonsense variants that evade NMD are ideal candidates for treatment with clinically safe readthrough compounds and modulator therapy.
- |||||||||| exaluren (ELX-02) / Eloxx Pharma
A Novel eRF1 Degrader Induces Translational Readthrough of CFTR Nonsense Mutations to Therapeutically Relevant Levels in Combination with Aminoglycosides (Exhibit Hall- RFPT B) - Aug 19, 2022 - Abstract #NACFC2022NACFC_639; SRI-41765 (15 μM) restored approximately 4.2% (SRI-41765 + G418) and approximately 6.3% (SRI-41765 + ELX-02) ofwild-type CFTR function in 16HBE cells expressing the G542X mutationwhen combined with submaximal (EC10) concentrations of aminoglyco-sides G418 or ELX-02...SRI-41765 is a novel compound that induces translationalreadthrough by degrading eRF1 to restore substantial CFTR function inprimary organoids with PTC alleles, particularly in combination withaminoglycosides. Given its favorable pharmacological properties, furtherdevelopment of SRI-41765 as a therapeutic agent for PwCF with PTCs iswarranted.
- |||||||||| exaluren (ELX-02) / Eloxx Pharma
Understanding synergy in nonsense suppression therapy for CFTR nonsense mutations (Exhibit Hall- RFPT B) - Aug 19, 2022 - Abstract #NACFC2022NACFC_587; Combining different functional classes of readthroughcompounds can lead to synergistic increases in readthrough and restorea significant amount of mRNA, thereby restoring a significant level of CFTRfunction. Development of specific combinations of readthrough com-pounds that act synergistically is likely to generate treatments that canrescue clinically significant levels of CFTR function.
- |||||||||| Symdeko (tezacaftor/ivacaftor) / Vertex, dirocaftor (PTI-808) / Yumanity Therap, exaluren (ELX-02) / Eloxx Pharma
Identification of organoid responders to CFTR modulators in the HIT-CF Europe project -Underlying the need for new treatment strategies for people with ultra-rare mutations (119 A) - Aug 5, 2022 - Abstract #NACFC2022NACFC_461; Intestinal organoids of PwCF withultra-rare mutations were screened with compounds that had alreadypassed phase I and II clinical trials (dirocaftor (DIR)/posenacaftor (POS)/nesolicaftor (NES) and ELX-02)...In the DIR/POS/NES screen, PDOs were incubated for 24 hours withDIR/POS using a PDO from a F508del/F508del donor incubated for 24 hourswith tezacaftor/ivacaftor as the positive control...Based on organoid responsiveness to ELX-02 and DIR/POS, upto 78% of PwCF that carry ultra-rare mutations could benefit fromupcoming CFTR modulating therapies. Although we have taken a greatstep forward in personalized medicine for PwCF, there is still a large unmetneed for those who haveCFTRclass VII (unrescuable) mutations or variantsthat cannot be restored by the tested CFTR modulating therapies.
- |||||||||| Journal: Functional Restoration of CFTR Nonsense Mutations in Intestinal Organoids. (Pubmed Central) - Apr 14, 2022
The mutation was linked to FV Leiden on both alleles. Whilst variation in efficacy was observed between genotypes as well as within genotypes, the data suggests that strong pharmacological rescue of PTC requires a combination of drugs that target RT, NMD and protein function.
- |||||||||| Trikafta (elexacaftor/tezacaftor/ivacaftor) / Vertex, exaluren (ELX-02) / Eloxx Pharma
[VIRTUAL] NMD-dependent approach restores CFTR function in primary nasal cells harboring nonsense variants () - Oct 19, 2021 - Abstract #NACFCI2021NACFC_I_1059; Triple combination therapy improves outcomes of read through in primary nasal cells bearing nonsense variants, where NMD is evaded or can be inhibited through ASO treatment. Further exploration of additional targetable factors that can achieve CFTR mRNA stability with minimal toxicity will help inform treatments.
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