A Study of ELX-02 in Patients With Alport Syndrome

A Phase 2 Open Label Pilot Study to Evaluate the Safety and Efficacy of Subcutaneously Administered ELX-02 in Patients With Alport Syndrome With Col4A5 and Col4A3/4 Nonsense Mutation

This is a Phase 2 open label pilot study to evaluate the safety and efficacy of subcutaneously administered ELX-02 in patients with X-linked or autosomal recessive Alport Syndrome with Col4A5 and Col4A3/4 nonsense mutation.

In total, up to 8 participants, with a minimum of 3 adults, will be enrolled in the trial.

The study will be comprised of the following periods for each participant:

• a Screening period of up to 6 weeks (42 days)
• a total Treatment Period of 8 weeks (60 days)
• a safety/efficacy Follow-up Period of 12 weeks (90 days) after the last treatment The Treatment Period will be a treatment of ELX-02 0.75 mg/kg SC QD for 8 weeks.

Study Overview

• Status: Completed
• Conditions: Alport Syndrome
• Intervention / Treatment: Drug: ELX-02

• Study Type: Interventional
• Enrollment (Actual): 3
• Phase: Phase 2

Contacts and Locations

Study Locations

• Australia
  • Victoria
    • Clayton, Victoria, Australia, 3168
      • Monash Medical Center
    • Parkville, Victoria, Australia, 3051
      • Royal Children's Hospital
• United Kingdom
  • London, United Kingdom, Nw3 2QG
    • Royal Free Hospital
  • London, United Kingdom, WC1N 3JH
    • Great Ormond Street Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 26 years (Child, Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• A confirmed diagnosis of X-linked or autosomal recessive Alport Syndrome with a documented nonsense mutation of Col4A5 in a male or nonsense mutation of Col4A3 or Col4A4 (male or female)
• The nonsense mutation should be UAG or UGA
• eGFR>60 ml/min/1.73 m2 (based on CKD-EPI for ages ≥18 and Schwartz formula for participants <18)
• Urinary protein based on two spot urine collections [urine protein/creatinine ratio (UPCR) ≥ 500 mg/g]
• Stable regimen of ACEi/ARB for at least 4 weeks before screening (unless there is a contraindication)

Exclusion Criteria:

• History of any organ transplantation
• Mutation consistent with autosomal dominant Alport Syndrome
• Liver disease characterized by cirrhosis or portal hypertension. Participants with alanine aminotransferase (ALT), aspartate aminotransferase (AST), and/or a total bilirubin 3.0 times the upper limit of normal (ULN) will be excluded
• History of congestive heart failure diagnosed clinically or with documented left ventricular ejection fraction (LVEF) ≤ 40%
• History of dialysis

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Open label study drug treatment	Drug: ELX-02; ELX-02 is a small molecule, new chemical entity being developed for the treatment of genetic diseases caused by nonsense mutations. ELX-02 is a eukaryotic ribosomal selective glycoside (ERSG).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants With Adverse Events Associated With Administration of 0.75 mg/kg of ELX-02 Once Daily	Treatment Emerging Adverse Events were defined as any adverse events with onset after the first administration of study medication through the end of the study, or any event that was present at baseline but worsened in intensity or was subsequently considered drug-related by the Investigator through the end of the study. Severe Treatment Emerging Adverse Event is a Treatment Emerging Adverse Events with CTCAE Grade 3 or above. Related Treatment Emerging Adverse Events is defined as a Treatment Emerging Adverse Events with a certain, probable/likely, or possible relationship to the study drug. Serious Adverse Events were Adverse Events resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged inpatient hospitalization; life-threatening.	From the time of first dosing through the end of the follow-up period, a total of 5 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change From Baseline in Proteinuria	Change from baseline to End Of Treatment. Measurement of urine protein/ creatinine ratio (UPCR) in urine samples	From screening assessment to end of study treatment, total of 3 timepoints for results at Baseline, Week 4 and End of Treatment at Day 60.
Change From Baseline to End of Treatment in Collagen IV Expression (Combined Average of Alpha 3 and Alpha 4 Chains)	Collagen IV expression was assessed by measuring the combined average of alpha 3 and alpha 4 chains, using Immunofluorescence method. Results are reported as percentage change from baseline to End of Treatment. Increase in Collagen IV expression indicate kidney structural improvement.	Baseline to End of Treatment (at Day 60)
Change From Baseline to End of Treatment in Collagen IV Expression (Foot Process Width in Renal Biopsy)	Collagen IV expression was assessed by measuring podocyte foot process width in renal biopsy specimens, using Transmission Electron Microscopy (TEM) method. Results are reported as percentage change from baseline to End of Treatment. Decrease values indicate kidney structural and morphological improvement.	Baseline to End of Treatment (at Day 60)
Change From Baseline to End of Treatment in Collagen IV Expression (Filtration Slit Density in Renal Biopsy)	Collagen IV expression was assessed by measuring filtration slit density in renal biopsy specimens, using 3D-Structured Illumination Microscopy method. Results are reported as change from baseline. Increase values indicate improvement and protein recovery.	Baseline to End of Treatment (at Day 60)

Collaborators and Investigators

• Sponsor: Eloxx Pharmaceuticals, Inc.

Publications and helpful links

General Publications

• Rheault MN. Treatment Approaches for Alport Syndrome. J Am Soc Nephrol. 2026 Jan 1;37(1):172-179. doi: 10.1681/ASN.0000000897. Epub 2025 Sep 12.

Helpful Links

• Eloxx Pharmaceuticals Website

Study record dates

Study Major Dates

• Study Start (Actual): November 28, 2022
• Primary Completion (Actual): September 11, 2023
• Study Completion (Actual): September 11, 2023

Study Registration Dates

• First Submitted: June 29, 2022
• First Submitted That Met QC Criteria: July 3, 2022
• First Posted (Actual): July 7, 2022

Study Record Updates

• Last Update Posted (Actual): February 24, 2026
• Last Update Submitted That Met QC Criteria: February 19, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Aminoglycoside; Translational read through; Nonsense Mutation
• Additional Relevant MeSH Terms: Urogenital Diseases; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Connective Tissue Diseases; Congenital Abnormalities; Urogenital Abnormalities; Nephritis; Collagen Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nephritis, Hereditary; ELX-02
• Other Study ID Numbers: EL-014

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No