A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis

• Register: ClinicalTrials.gov
• Last refreshed on: 12 December 2020
• Main ID: NCT04069260
• Date of registration: 16/08/2019
• Prospective Registration: No
• Primary sponsor: Eloxx Pharmaceuticals, Inc.
• Public title: A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
• Scientific title: A Phase 2, Single Center, Open-Label, Multiple Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Daily Subcutaneously Administered ELX-02 in Patients With Nephropathic Cystinosis Bearing One or More CTNS Gene (Cystinosin) Nonsense Mutations
• Date of first enrolment: August 2, 2019
• Target sample size: 3
• Recruitment status: Terminated
• URL: https://clinicaltrials.gov/show/NCT04069260
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 2

Countries of recruitment

Canada

Contacts

• Name: Paul Goodyer, MD
• Affiliation: McGill University

Key inclusion & exclusion criteria

Patients must meet all of the following criteria to participate in this study:

1. Male or female patients who, at the time of screening, are 18 years of age or older
(Cohort 1) or =12 years of age (Cohort 2)

2. A diagnosis of nephropathic cystinosis and biallelic CTNS mutations, including at
least one nonsense mutation

3. Patients should have a mild to moderate disease estimated glomerular filtration rate
=40 mL/min/1.73m2 using the Chronic Kidney Disease Epidemiology Collaboration CKD-EPI
formula

4. Body mass index of 19.0 to 30.0 kg/m2. Patients with a lower BMI may be entered into
the study at the discretion of the Investigator following consultation with the
Sponsor

5. Renal transplant permitted with stable graft function (serum creatinine) for 3 months
prior to Screening

Patients with any of the following characteristics/conditions will not be included in the
study:

1. Participation in clinical study including administration of any investigational drug
or device in the last 30 days or 5 half-lives (whichever is longer) prior to
investigational product dosing in the current study

2. Concomitant use of cysteamine bitartrate from 7 days prior to baseline until 7 days
following final administration ELX-02

3. An average systolic blood pressure and/or diastolic blood pressure =95th percentile
for sex, age, and height on 3 or more occasions during the screening period

4. Patients without documented prior aminoglycoside exposure who have a mitochondrial
mutation that has been shown to increase sensitivity to aminoglycosides

5. Known relevant allergy or hypersensitivity to aminoglycosides



Age minimum: 12 Years
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Genetic Disease

Nonsense Mutation

Cystinosis

Intervention(s)

Drug: ELX-02

Primary Outcome(s)

Area under the plasma concentration curve from time zero to 24 hours (AUC0-24h) [Time Frame: Day 1 of treatment periods 1, 2, and 3]

Maximum observed plasma concentration (Cmax) [Time Frame: Day 1 of treatment periods 1, 2, and 3]

AEs associated with different dose levels of ELX-02 [Time Frame: From the time of first dosing through the follow-up visit, an average of approximately 10 weeks]

Amount of ELX-02 excreted in urine from 0 to 24 hours (Ae24h) [Time Frame: Day 1 of treatment periods 1, 2, and 3]

Observed plasma concentration at 1 hour post dose (C1h) [Time Frame: Days 1, 2, 5, and 7 of treatment periods 1-2; Days 1, 2, 5, 7, 10, and 14 of treatment period 3]

Renal clearance on Day 1 (Ae24h/plasma AUC0-24h) [Time Frame: Day 1 of treatment periods 1, 2, and 3]

Secondary Outcome(s)

Changes from baseline in WBC cystine levels [Time Frame: Screening; Days 1, 2, 5, and 7 of treatment periods 1-2; Days 1, 2, 5, 7, 10, and 14 of treatment period 3, and 4-week safety follow-up]

Secondary ID(s)

EL-003

Source(s) of Monetary Support

Please refer to primary and secondary sponsors