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A Study of ELX-02 in Patients With Alport Syndrome

Phase 2
Conditions
Alport Syndrome
Interventions
Registration Number
NCT05448755
Lead Sponsor
Eloxx Pharmaceuticals, Inc.
Brief Summary

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.

Detailed Description

Not available

Recruitment & Eligibility

Status
UNKNOWN
Sex
All
Target Recruitment
8
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 & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Open label study drug treatmentELX-02-
Primary Outcome Measures
NameTimeMethod
The incidence and characteristics of adverse eventsFrom the time of first dosing through the end of the follow-up period, a total of 5 months
Secondary Outcome Measures
NameTimeMethod
Change in proteinuriaFrom screening assessment to end of study treatment and end of follow up period, two and five months respectively
Change in Col IV expression in renal biopsyFrom biopsy collected at screening to the biopsy collected at the end of study treatment, a two months interval
Change in hematuriaFrom screening assessment to end of study treatment and end of follow up period, two and five months respectively

Trial Locations

Locations (4)

Great Ormond Street Hospital

🇬🇧

London, United Kingdom

Monash Medical Center

🇦🇺

Clayton, Victoria, Australia

Royal Free Hospital

🇬🇧

London, United Kingdom

Royal Children's Hospital

🇦🇺

Parkville, Victoria, Australia

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