Scientific Publications

Publications, Presentations, and Posters

Peer-reviewed publications, conference posters, and presentations by Eloxx scientists and independent researchers.

Nonsense Mutation Alport Syndrome

2024
Small Molecule Premature Termination Codon Readthrough Therapy: A Phase 2 Pediatric and Adult Trial in Nonsense Mutation Alport Syndrome
Gale, Daniel P. et al.
ASN Kidney Week 2024 — Oral Presentation (SA-OR98)
2022
Investigational Therapy of Alport Syndrome With ELX-02
A. Hariri, K. Omachi, V. Badarinarayana, M. Cox, J. Miner, V. Modur
ASN Kidney Week 2022 — Poster

Nonsense Mutation ADPKD

2025
Translational readthrough therapy for ADPKD induces polycystin-1 expression and partially rescues functional deficits in PKD1 mutant cells
Torban E et al.
Sci Rep. 2025;15:16427
2021
Read-through therapeutics reduce cystogenesis in a novel cohort of CRISPR base edited ADPKD organoids
Courtney Vishy
ASN Kidney Week 2021 — Poster

Key Background Literature

Selected independent research supporting the scientific rationale for exaluren.

1995
Structural-functional relationships in Alport syndrome
Kim KH, Kim Y, Gubler MC, Steffes MW, Lane PH, Kashtan CE, Crosson JT, Mauer SM
J Am Soc Nephrol. 1995;5(9):1659–68
2014
A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers
Korstanje R, Caputo CR, Doty RA, Cook SA, Bronson RT, Davisson MT, Miner JH
Kidney Int. 2014;85(6):1461–8
2017
Structured illumination microscopy and automatized image processing as a rapid diagnostic tool for podocyte effacement
Siegerist F, Ribback S, Dombrowski F et al.
Sci Rep. 2017;7:11473
2023
Alport Syndrome Natural History from the RaDaR Registry: Associations with gene, variant type and sex
Wong MMY et al.
Kidney International — RaDaR Registry Analysis
2021
Renal plasticity revealed through reversal of polycystic kidney disease in mice
Dong K, Zhang C, Tian X et al.
Nat Genet. 2021;53(12):1649–1663
2024
Multidimensional Characterization of Renal Biopsies Integrating Podocyte Morphology with Clinical and Histopathological Features
Pospiech J, Bohnenpoll T, Skroblin P, Endlich T, Radresa O, Endlich N, Andag U
ASN Kidney Week 2024 — Poster (TH-PO786) · Evotec / NIPOKA
2026
The Associations of Foot Process Effacement with Kidney Histopathologic Lesions and Disease Progression
Wittig M, Schmidt IM et al.
Kidney360. 2026;7(1):72–80

ELX-02 Clinical & Pharmacology

2021
A Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Escalation Study to Evaluate the Safety and Pharmacokinetics of ELX-02 in Healthy Subjects
Andi Leubitz, Frederic Vanhoutte, Ming-yi Hu, Kaela Porter, Efrat Gordon, Kathleen Tencer, Kathleen Campbell, Kate Banks, Tom Haverty
Clinical Pharmacology in Drug Development
2021
Phase 1 Renal Impairment Trial Results Supports Targeted Individualized Dosing of ELX-02 in Patients With Nephropathic Cystinosis
Thomas Haverty, David J. Wyatt, Kaela M. Porter, Andi Leubitz, Kate Banks, Paul Goodyer, Ming-Yi Hu
Journal of Clinical Pharmacology
2020
ELX-02: an Investigational Read-through Agent for the Treatment of Nonsense Mutation-related Genetic Disease
Eitan Kerem
Review Article
2020
ELX-02 Generates Protein via Premature Stop Codon Read-Through without Inducing Native Stop Codon Read-Through Proteins
Daniel K. Crawford, Iris Alroy, Neal Sharpe, Matthew M. Goddeeris, Greg Williams
Journal of Pharmacology and Experimental Therapeutics
2020
Administration of ELX-02 to Healthy Volunteers Demonstrates Dose Linearity and Proportionality as well as Low Inter-subject Variability
Greg Williams, PhD
ECFS 2020 — Poster
2020
Pharmacokinetics, Safety, and Tolerability of Single Ascending Doses of ELX-02 in Healthy Volunteers
Andi Leubitz
NACFC 2019 — Poster
2020
Pharmacokinetics, Safety, and Tolerability of Multiple Ascending Doses of ELX-02 in Healthy Volunteers
Greg Williams, PhD
NACFC 2019 — Poster
2019
Safety, Tolerability, and Pharmacokinetics of Single Ascending Doses of ELX-02, a Potential Treatment for Genetic Disorders Caused by Nonsense Mutations, in Healthy Volunteers
Eloxx Scientific Team
Clinical Pharmacology in Drug Development
2019
An Open-Label, Single Dose, Parallel-Group Study to Evaluate the Effects of Renal Impairment on the Pharmacokinetics of ELX-02
Greg Williams, PhD
ASN Kidney Week 2019 — Poster
2019
An Open, Single Dose, Parallel-Group Study to Evaluate the Effects of Renal Impairment on the Pharmacokinetics of ELX-02
G Williams, A Leubitz, RA Preston, DJ Wyatt, M Goddeeris
ASN Kidney Week 2019 — Poster

Cystic Fibrosis

2021
Targeting G542X CFTR nonsense alleles with ELX-02 restores CFTR function in human-derived intestinal organoids
Daniel K. Crawford, Jasper Mullenders, Johanna Pott, Sylvia F. Boj, Shira Landskroner-Eiger, Matthew M. Goddeeris
Journal of Cystic Fibrosis
2020
ELX-02 Pharmacokinetic Profile Appropriate for CF Patient Use
Greg Williams, PhD
ECFC 2020 — Poster
2020
Investigational Drug ELX-02 Mediates CFTR Nonsense Mutations Read-through to Increase CFTR mRNA, CFTR Protein Translation and CFTR Function
Matt Goddeeris, PhD
NACFC 2019 — Poster
2019
ELX-02 Increases Full-length CFTR mRNA through Nonsense Mediated Decay Interruption
Matt Goddeeris, PhD
ECFS 2019 — Poster
2013
Synthetic Aminoglycosides Efficiently Suppress Cystic Fibrosis Transmembrane Conductance Regulator Nonsense Mutations and Are Enhanced by Ivacaftor
Xue X, Mutyam V, Tang L, Biswas S, Du M, Jackson LA, Dai Y, Belakhov V, Shalev M, Chen F, Schacht J, Bridges RJ, Baasov T, Hong J, Bedwell DM, Rowe SM
American Journal of Respiratory Cell and Molecular Biology

Cancer — ZKN Pipeline

2023
A Novel Class of Ribosome Modulating Agents Exploits Cancer Ribosome Heterogeneity to Selectively Target the CMS2 Subtype of Colorectal Cancer
Esteban Terzo, Shruti A. Apte, Simran Padhye, Saleh Rashed, Wesley Austin, Michael Caponegro, Anupama Reddy, Shuhao Shi, Christy Wang, Roger B. Clark, David Sidransky, Vijay Modur, Vasudeo Badarinarayana
Cancer Research Communications
2023
Novel read through agent: ZKN-013 demonstrates efficacy in APC model of familial adenomatous polyposis
Martin R. Graf, Shruti Apte, Esteban Terzo, Simran Padhye, Shuhao Shi, Megan K. Cox, Roger B. Clark, Vijay Modur, Vasudeo Badarinarayana
Gastroenterology — Poster
2022
A novel class of Ribosome Modulating Agents (RMAs) targets ribosome heterogeneity in a subset of Small Cell Lung Cancers
V. Badarinarayana, M. Brait, E. Terzo, D.G. Lima, M.T. Ugurlu, S. Apte, S. Padhye, S. Rashed, W.F. Austin, C. Wang, M. Caponegro, R.B. Clark, D. Sidransky, V. Modur
AACR Annual Meeting 2022 — Poster
2022
A novel class of Ribosome Modulating Agents (RMAs) targets ribosome heterogeneity in a subset of colorectal cancers
V. Badarinarayana, E. Terzo, S. Apte, S. Padhye, S. Rashed, W. Austin, M. Caponegro, A. Reddy, S. Shi, C. Wang, R. Clark, D. Sidransky, V. Modur
AACR Annual Meeting 2022 — Poster
2022
Identification, validation and initial SAR exploration of oncoribosome targeting macrolides
Wesley F. Austin, Simran Padhye, Shruti Apte, Vasu Badarinarayana, Roger B. Clark, Saleh Rashed, Shuhao Shi, Esteban Terzo, Christy Wang
Medicinal Chemistry in Oncology — Poster

Cystinosis & Other Disease Models

2020
Intravitreal Administration of Small Molecule Read-through Agents Demonstrate Functional Activity in a Nonsense Mutation Mouse Model
Daniel K. Crawford, Phillip Vanlandingham, Susan Schneider, Matthew M. Goddeeris
Experimental Eye Research
2020
Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome
Jonathan K. Merritt, Bridget E. Collins, Kirsty R. Erickson, Hongwei Dong, Jeffrey L. Neul
Neurobiology of Disease
2019
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis
Emma J. Brasell, Lee Lee Chu, Murielle M. Akpa, Idit Eshkar-Oren, Iris Alroy, Rachel Corsini, Brian M. Gilfix, Yojiro Yamanaka, Pedro Huertas, Paul Goodyer
PLOS ONE
2019
Cystinosis Nonsense Mutation Read-through Mediated by ELX-02 Restores Protein Function Using In Vitro and In Vivo Models
Doug McMillin, PhD
ASN Kidney Week 2019 — Poster
2019
Cystinosis nonsense mutation read-through mediated by ELX-02 restores protein function using in vitro and in vivo models
M. Goddeeris, Emma Brasell, Doug McMillin, Paul Goodyer, G. Williams
ASN Kidney Week 2019 — Poster

Foundation Science

2017
Characterization of new-generation aminoglycoside promoting premature termination codon readthrough in cancer cells
Laure Bidou, Olivier Bugaud, Valery Belakhov, Timor Baasov, Olivier Namy
RNA Biology
2016
Design of Novel Aminoglycoside Derivatives with Enhanced Suppression of Diseases-Causing Nonsense Mutations
Narayana Murthy Sabbavarapu, Michal Shavit, Yarden Degani, Boris Smolkin, Valery Belakhov, Timor Baasov
ACS Medicinal Chemistry Letters
2014
Designer Aminoglycosides That Selectively Inhibit Cytoplasmic Rather than Mitochondrial Ribosomes Show Decreased Ototoxicity
Eli Shulman, Valery Belakhov, Gao Wei, Ann Kendall, Esther G. Meyron-Holtz, Dorit Ben-Shachar, Jochen Schacht, Timor Baasov
Journal of Biological Chemistry
2012
Increased Selectivity toward Cytoplasmic versus Mitochondrial Ribosome Confers Improved Efficiency of Synthetic Aminoglycosides in Fixing Damaged Genes: A Strategy for Treatment of Genetic Diseases Caused by Nonsense Mutations
Jeyakumar Kandasamy, Dana Atia-Glikin, Eli Shulman, Katya Shapira, Michal Shavit, Valery Belakhov, Timor Baasov
Journal of Medicinal Chemistry
2012
Development of generic immunoassay for the detection of a series of aminoglycosides with 6′-OH group for the treatment of genetic diseases in biological samples
Moran Shalev, Jeyakumar Kandasamy, Nir Skalka, Valery Belakhov, Rina Rosin-Arbesfeld, Timor Baasov
Journal of Pharmaceutical and Biomedical Analysis