Genetic DiseasePhase 2NCT04069260
A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
A Phase 2 study testing ELX-02 in people with Genetic Disease and Nonsense Mutation, run by Eloxx Pharmaceuticals, Inc. at 1 site in Canada.
Trial summary
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele. Six patients will be enrolled in the trial. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Genetic Disease, Nonsense Mutation, Cystinosis
- What is being tested?
- ELX-02
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteCanada
- Study dates
- 2 Aug 2019to 17 Dec 2019
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Patients must meet all of the following criteria to participate in this study:
- 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)
- A diagnosis of nephropathic cystinosis and biallelic CTNS mutations, including at least one nonsense mutation
- 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
- 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
- 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:
- 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
- Concomitant use of cysteamine bitartrate from 7 days prior to baseline until 7 days following final administration ELX-02
- 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
- Patients without documented prior aminoglycoside exposure who have a mitochondrial mutation that has been shown to increase sensitivity to aminoglycosides
- Known relevant allergy or hypersensitivity to aminoglycosides
Trial locations and contacts
1 site in 1 country.
About this study
Official 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
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
Six patients will be enrolled in the trial.
Read more
The study will comprise of the following periods for each patient:
- A screening period of up to 6 weeks
- A total treatment period of 4 weeks
- A safety follow-up period of 4 weeks after the last treatment
Each patient will receive three escalating doses as follows:
- Treatment period 1: ELX-02 0.5 mg/kg SC daily for 7 days (total dose not to exceed 3.5 mg/kg for this week; the daily dose will be individualized to achieve the target weekly exposure of about 47.5 µg*h/mL)
- Treatment period 2: ELX-02 1.0 mg/kg SC daily for 7 days (total dose not to exceed 7.0 mg/kg for this week; the daily dose will be individualized to achieve the target weekly exposure of about 95 µg*h/mL)
- Treatment period 3: ELX-02 2.0 mg/kg SC daily for 14 days (total dose not to exceed 14 mg/kg for these two weeks; the daily dose will be individualized to achieve the target weekly exposure of about 190 µg*h/mL)
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Being tested
- ELX-02
- Keywords
- aminoglycoside, translational read-through, cystinosis, nonsense mutation
- Medical subject headings
- Genetic Diseases, Inborn, Cystinosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ELX-02Drug
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).
| Study group | Role | What they receive |
|---|---|---|
| ELX-02 | Experimental | Eukaryotic ribosomal selective glycoside (ERSG) Receives: Drug: ELX-02 |
What is being measured
The primary outcome is the main question the study is designed to answer.
AEs associated with different dose levels of ELX-02
Measured: From the time of first dosing through the follow-up visit, an average of approximately 10 weeks
Area under the plasma concentration curve from time zero to 24 hours (AUC0-24h)
Full PK profile 12 blood samples over 24 hours
Measured: Day 1 of treatment periods 1, 2, and 3
Maximum observed plasma concentration (Cmax)
Full PK profile 12 blood samples over 24 hours
Measured: Day 1 of treatment periods 1, 2, and 3
Observed plasma concentration at 1 hour post dose (C1h)
Sparse sampling, blood sampling only, pre-dose and 1 hour post dose
Measured: Days 1, 2, 5, and 7 of treatment periods 1-2; Days 1, 2, 5, 7, 10, and 14 of treatment period 3
Amount of ELX-02 excreted in urine from 0 to 24 hours (Ae24h)
6 urine collections over 24 hours
Measured: Day 1 of treatment periods 1, 2, and 3
Renal clearance on Day 1 (Ae24h/plasma AUC0-24h)
6 urine collections over 24 hours
Measured: Day 1 of treatment periods 1, 2, and 3
Secondary outcomes (1)
Changes from baseline in WBC cystine levels
Measured: 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
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2019
- Study start2 Aug 2019
- Primary completion17 Dec 2019
- Study completion17 Dec 2019
Why it stopped: Due to study design limitations, this study has been discontinued and will not proceed with the 2nd cohort as contemplated in the original protocol.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- Eloxx Pharmaceuticals, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Paul Goodyer, MD, Principal investigator, McGill University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04069260
- Sponsor's protocol ID
- EL-003
- Status last verified
- Dec 2019
- First submitted
- 16 Aug 2019
- Last updated
- 27 May 2020
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 May 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT04069260
- Acronym / sponsor ID
- EL-003
- Conditions
- Genetic Disease, Nonsense Mutation, Cystinosis
- Keywords
- aminoglycoside, translational read-through, cystinosis, nonsense mutation
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Due to study design limitations, this study has been discontinued and will not proceed with the 2nd cohort as contemplated in the original protocol.
- Enrolment
- 3 participants (actual)
- Lead sponsor
- Eloxx Pharmaceuticals, Inc.Industry (pharma, biotech, devices)
- Study start
- 2 Aug 2019 (actual)
- Primary completion
- 17 Dec 2019 (actual)
- Study completion
- 17 Dec 2019 (actual)
- First posted
- 28 Aug 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a Phase 2 open label study to evaluate the safety, tolerability, PK, and PD of multiple dose levels of SC administered ELX-02 in patients with cystinosis with nonsense mutation in at least one allele.
Six patients will be enrolled in the trial.
The study will comprise of the following periods for each patient:
- A screening period of up to 6 weeks
- A total treatment period of 4 weeks
- A safety follow-up period of 4 weeks after the last treatment
Each patient will receive three escalating doses as follows:
- Treatment period 1: ELX-02 0.5 mg/kg SC daily for 7 days (total dose not to exceed 3.5 mg/kg for this week; the daily dose will be individualized to achieve the target weekly exposure of about 47.5 µg*h/mL)
- Treatment period 2: ELX-02 1.0 mg/kg SC daily for 7 days (total dose not to exceed 7.0 mg/kg for this week; the daily dose will be individualized to achieve the target weekly exposure of about 95 µg*h/mL)
- Treatment period 3: ELX-02 2.0 mg/kg SC daily for 14 days (total dose not to exceed 14 mg/kg for these two weeks; the daily dose will be individualized to achieve the target weekly exposure of about 190 µg*h/mL)
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| ELX-02 | Experimental | Drug: ELX-02Eukaryotic ribosomal selective glycoside (ERSG) |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ELX-02ELX-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). | Drug | ELX-02 |
Primary outcome
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
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
Full PK profile 12 blood samples over 24 hours
Maximum observed plasma concentration (Cmax)
Time frame: Day 1 of treatment periods 1, 2, and 3
Full PK profile 12 blood samples over 24 hours
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
Sparse sampling, blood sampling only, pre-dose and 1 hour post dose
Amount of ELX-02 excreted in urine from 0 to 24 hours (Ae24h)
Time frame: Day 1 of treatment periods 1, 2, and 3
6 urine collections over 24 hours
Renal clearance on Day 1 (Ae24h/plasma AUC0-24h)
Time frame: Day 1 of treatment periods 1, 2, and 3
6 urine collections over 24 hours
1 secondary outcome
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
Results and safety
The study was stopped early (reason given: Due to study design limitations, this study has been discontinued and will not proceed with the 2nd cohort as contemplated in the original protocol.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 2020.
- Eloxx Pharmaceuticals WebsiteLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Paul Goodyer, MD principal investigator
McGill University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing ELX-02 in people with Genetic Disease and Nonsense Mutation, run by Eloxx Pharmaceuticals, Inc. at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 27 May 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: Due to study design limitations, this study has been discontinued and will not proceed with the 2nd cohort as contemplated in the original protocol.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 May 2020.