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.

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