ChoroideremiaPhase 2NCT02553135
Choroideremia Gene Therapy Clinical Trial
A Phase 2 study testing Injection of AAV2-REP1 (10e11 vg) in people with Choroideremia, run by Byron Lam at 1 site in United States.
Trial summary
Phase II gene therapy study, involving a total of 6 male patients with choroideremia. The study will be conducted at the Bascom Palmer Eye Institute, University of Miami. Patients will be required to attend a total of 11 study visits over a 24 month period with an additional 3 year follow-up. Read more about this study
- Who is it for?
- Ages 18 years and older, men only
- Conditions the study is for
- Choroideremia
- What is being tested?
- Injection of AAV2-REP1 (10e11 vg)
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2015to Feb 2018
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 18 years and older
- Men only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 18 Years and older
- Male
- Able to give informed consent
- Genetically confirmed diagnosis of choroideremia
- Active disease visible clinically within the macula region
- Best-corrected visual acuity equal to or worse than 20/32 but better than or equal to 20/200 in the study eye.
Who cannot join
- Female
- Under the age of 18
- History of amblyopia in the study eye
- Men unwilling to use barrier contraception methods
- Relevant grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control
- Any other significant ocular and non-ocular disease/disorder or retinal surgery
Show all 9Show fewer
- Contraindication to use of medications or contrast agents
- Participated in research study involving an investigational product in the past 12 weeks
- Having had gene or cellular therapy at any time prior to this study.
Trial locations and contacts
1 site in 1 country.
United States1 site
Bascom Palmer Eye Institute, University of Miami
Miami, Florida, 33136
About this study
Official title: An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)
Phase II gene therapy study, involving a total of 6 male patients with choroideremia. The study will be conducted at the Bascom Palmer Eye Institute, University of Miami. Patients will be required to attend a total of 11 study visits over a 24 month period with an additional 3 year follow-up.
Read the detailed description
This is a Phase II, open label study involving patients with a clinical phenotype of choroideremia and a confirmed CHM genotype. Following consent, patients will be required to attend an initial screening visit (Visit 1). Within 2 weeks of the screening visit patients will undergo a surgical procedure (Visit 2) under general anesthesia which will include a standard vitrectomy, retinal detachment and administration of a subretinal injection of AAV2-REP1 (1x1011 genome particles). Patients will be required to attend a further 9 study visits (Visits 3-11) over a 24 month period for functional, and anatomical assessments as well as monitoring of adverse events. The primary endpoint is the change from baseline in visual acuity in the study eye, compared to control eye. Secondary study endpoints are, change from baseline in autofluorescence evaluation, microperimetry readings and other anatomic and functional outcomes (all in the study eye compared to control eye). Secondary endpoints also include safety assessments to be conducted throughout the study. The fellow eyes of these patients will be utilized as controls in this study and will receive no study treatment.
- Conditions
- Choroideremia
- Being tested
- Injection of AAV2-REP1 (10e11 vg)
- Keywords
- choroideremia, gene therapy
- Medical subject headings
- Choroideremia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Injection of AAV2-REP1 (10e11 vg)Biological
Single Group: single arm study
| Study group | Role | What they receive |
|---|---|---|
| Injection of AAV2-REP1 | Experimental | Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. Receives: Biological: Injection of AAV2-REP1 (10e11 vg) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Best Corrected Visual Acuity From Baseline
Patients will have an assessment of visual acuity using the Early Treatment of Diabetic Retinopathy Study (ETDRS) vision charts in both eyes. Low Luminance BCVA was measured by placing a 2.0 log unit neutral density filter over the best correction for that eye and having the participant read the normally illuminated ETDRS chart and was reported as the number of letters read correctly (ranging from 0 to 100 letters) in the study eye. The lower the number of letters read correctly on the eye chart, the worse the vision (or visual acuity). The study eye was defined as the eye that met inclusion/exclusion criteria with the worst standard BCVA. If the BCVA in both eyes was similar the Patient determines the worse eye be selected as the study eye. A positive change from baseline indicates an improvement and a negative change from baseline indicates a worsening.
Measured: Baseline, 24 Months
Secondary outcomes (3)
Change in Retinal Macular Autofluorescence From Baseline
Measured in mm^2 by Fundus Autofluorescence and shows changes in the integrity and metabolism of retinal cells. A negative change from baseline indicates a decrease in size of the retained retina (worsening; disease progression).
Measured: 12 and 24 months
Changes in Microperimetry From Baseline
Microperimetry assessments. A negative change from baseline indicates disease worsening.
Measured: Baseline to 24 months
Number of Participants Who Experience an Adverse Event
Adverse events during treatment and follow-up period
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Sep 2015 (estimated)
- Study startSep 2015
- Primary completionFeb 2018
- Study completionFeb 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for ChoroideremiaStudies 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
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Byron Lam
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Byron Lam, University of Miami
- Investigators
- BYRON LAM, MD, Principal investigator, UNIVERSITY OF MIAMI, BASCOM PALMER EYE INSTITUTE
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02553135
- Sponsor's protocol ID
- 20150371
- Status last verified
- Jul 2019
- First submitted
- 17 Jun 2015
- Last updated
- 29 Jul 2019
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
Publications
Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases. Am J Ophthalmol. 2018 Dec;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038. Epub 2018 Sep 5.
PubMed 30194931
Study at a glance
From the registry record, last updated by the sponsor on 29 Jul 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1)
- ClinicalTrials.gov ID
- NCT02553135
- Acronym / sponsor ID
- 20150371
- Conditions
- Choroideremia
- Keywords
- choroideremia, gene therapy
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Byron LamUniversity, hospital or other
- Study start
- Sep 2015 (actual)
- Primary completion
- Feb 2018 (actual)
- Study completion
- Feb 2018 (actual)
- First posted
- 17 Sep 2015 (estimated)
- Results
- Posted 29 Jul 2019
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Phase II gene therapy study, involving a total of 6 male patients with choroideremia. The study will be conducted at the Bascom Palmer Eye Institute, University of Miami. Patients will be required to attend a total of 11 study visits over a 24 month period with an additional 3 year follow-up.
Detailed description
This is a Phase II, open label study involving patients with a clinical phenotype of choroideremia and a confirmed CHM genotype. Following consent, patients will be required to attend an initial screening visit (Visit 1). Within 2 weeks of the screening visit patients will undergo a surgical procedure (Visit 2) under general anesthesia which will include a standard vitrectomy, retinal detachment and administration of a subretinal injection of AAV2-REP1 (1x1011 genome particles). Patients will be required to attend a further 9 study visits (Visits 3-11) over a 24 month period for functional, and anatomical assessments as well as monitoring of adverse events. The primary endpoint is the change from baseline in visual acuity in the study eye, compared to control eye. Secondary study endpoints are, change from baseline in autofluorescence evaluation, microperimetry readings and other anatomic and functional outcomes (all in the study eye compared to control eye). Secondary endpoints also include safety assessments to be conducted throughout the study. The fellow eyes of these patients will be utilized as controls in this study and will receive no study treatment.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Injection of AAV2-REP1 | Experimental | Biological: Injection of AAV2-REP1 (10e11 vg)Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL. |
Who may qualify
- Ages
- 18 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- 18 Years and older
- Male
- Able to give informed consent
- Genetically confirmed diagnosis of choroideremia
- Active disease visible clinically within the macula region
Key exclusion criteria (9 listed)
- Female
- Under the age of 18
- History of amblyopia in the study eye
- Men unwilling to use barrier contraception methods
- Relevant grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control
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 |
|---|---|---|
| Injection of AAV2-REP1 (10e11 vg)Single Group: single arm study | Biological | Injection of AAV2-REP1 |
Primary outcome
Change in Best Corrected Visual Acuity From Baseline
Time frame: Baseline, 24 Months
Patients will have an assessment of visual acuity using the Early Treatment of Diabetic Retinopathy Study (ETDRS) vision charts in both eyes. Low Luminance BCVA was measured by placing a 2.0 log unit neutral density filter over the best correction for that eye and having the participant read the normally illuminated ETDRS chart and was reported as the number of letters read correctly (ranging from 0 to 100 letters) in the study eye. The lower the number of letters read correctly on the eye chart, the worse the vision (or visual acuity). The study eye was defined as the eye that met inclusion/exclusion criteria with the worst standard BCVA. If the BCVA in both eyes was similar the Patient determines the worse eye be selected as the study eye. A positive change from baseline indicates an improvement and a negative change from baseline indicates a worsening.
3 secondary outcomes
Change in Retinal Macular Autofluorescence From Baseline
Time frame: 12 and 24 months
Changes in Microperimetry From Baseline
Time frame: Baseline to 24 months
Number of Participants Who Experience an Adverse Event
Time frame: 24 months
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Jul 2019.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 30194931Davis JL. The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases. Am J Ophthalmol. 2018 Dec;196:xxv-xxix. doi: 10.1016/j.ajo.2018.08.038. Epub 2018 Sep 5.
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Choroideremia
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.
BYRON LAM, MD principal investigator
UNIVERSITY OF MIAMI, BASCOM PALMER EYE INSTITUTE
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 Injection of AAV2-REP1 (10e11 vg) in people with Choroideremia, run by Byron Lam at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 9 exclusion criteria. 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: finished, as of the sponsor's last update on 29 Jul 2019. 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 United States. 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?
Yes. Results are posted in the registry (first posted 29 Jul 2019). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Change in Best Corrected Visual Acuity From Baseline (time frame: Baseline, 24 Months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02553135, which also lists 1 linked publication.
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 29 Jul 2019.