Inherited Retinal Dystrophy Due to RPE65 MutationsNCT03602820
Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)
An observational study of Inherited Retinal Dystrophy Due to RPE65 Mutations, run by Genentech, Inc..
Trial summary
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject. The study is a non-interventional, follow-up study of subjects who participated in previous AAV2-hRPE65v2 gene therapy clinical trials. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Inherited Retinal Dystrophy Due to RPE65 Mutations
- What is being tested?
- AAV2-hRPE65v2
- How many people
- 41 participants
- Where
- No sites listed yet
- Study dates
- Jun 2015to Jan 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals who received the subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl) in the Phase 1 or Phase 3 clinical trials
Who may be able to join
- 1. Subjects who participated in prior subretinal AAV2-hRPE65v2 gene therapy clinical studies
Who cannot join
- Subjects who will not consent for study.
- Subjects who the investigators believe are not capable of performing study assessments
About this study
Official title: A Long-Term Follow-Up Study in Subjects Who Received an Adenovirus-Associated Viral Vector Serotype 2 Containing the Human RPE65 Gene (AAV2-hRPE65v2, Voretigene Neparvovec-rzyl) Administered Via Subretinal Injection
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject. The study is a non-interventional, follow-up study of subjects who participated in previous AAV2-hRPE65v2 gene therapy clinical trials.
Read the detailed description
This is an observational follow-up study of subjects who participated in previous Phase 1 and Phase 3 clinical trials of AAV2-hRPE65v2 gene therapy (voretigene neparvovec-rzyl) to evaluate long term durability and safety for 15 years after subretinal administration.
- Being tested
- AAV2-hRPE65v2
- Keywords
- Leber congenital amaurosis, retinitis pigmentosa
- Medical subject headings
- Leber Congenital Amaurosis, Retinitis Pigmentosa
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AAV2-hRPE65v2Biological
Also called Voretigene Neparvovec-rzyl
What is being measured
The primary outcome is the main question the study is designed to answer.
Mobility testing, Bilateral
Mobility testing will be videotaped at each study visit at which it is conducted. Independent reviewers may grade subjects' mobility videos. Graders will use a defined combination of speed and accuracy to grade each course attempt at a given light intensity. The course will be re-configured between each attempt, using twelve standardized templates, to reduce the impact of a potential learning effect. Each subject will be tested, using both eyes, under at least two and sometimes three different (specified) lighting conditions. The levels of light, selected to span lighting conditions that individuals encounter in daily life, range from a studio with floodlights (400 lux) or a brightly lit office (250 lux) down to a poorly lit sidewalk at night (1 lux).
Measured: 15 years
Secondary outcomes (3)
Full-field light sensitivity threshold (FST) testing
FST testing measures the light sensitivity of the entire visual field by recording the luminance at which a subject reports seeing the dimmest flash. The test is carried out on subjects with dilated eyes in a dark-adapted state; subjects are seated in front of a Ganzfeld dome in which the light flashes are generated. The light sensitivity of each eye is measured separately by patching one eye (and then the other). A sound is generated and the subject presses one button when they see a flash or a second button if they do not see a flash. Flashes of varying luminance (in a range spanning ~80 dB) are presented in a randomized order with no flashes, except that the series starts with dim flashes. From this data, an algorithm calculates the minimum luminance (for each eye) at which the subject perceives light.
Measured: 15 years
Mobility testing, Monocular
Mobility testing will be videotaped at each study visit at which it is conducted. Independent reviewers may grade subjects' mobility videos. Graders will use a defined combination of speed and accuracy to grade each course attempt at a given light intensity. The course will be re-configured between each attempt, using twelve standardized templates, to reduce the impact of a potential learning effect. Each subject will be tested, using the first treated eye, under at least two and sometimes three different (specified) lighting conditions. The levels of light, selected to span lighting conditions that individuals encounter in daily life, range from a studio with floodlights (400 lux) or a brightly lit office (250 lux) down to a poorly lit sidewalk at night (1 lux).
Measured: 15 years
Visual acuity
Visual acuity measures central vision using the ability to resolve standard optotype images presented as letters corresponding to different visual angles, i.e., image size. This testing will include age-adapted tests, such as ETDRS testing or HOTV testing (which uses the letters H, O, T, V, which can be identified even by young children and all four of which center around a vertical axis). The level of central visual resolution is converted to a visual angle score (LogMAR). Subjects may, in some cases, need to undergo repeated testing sessions, including on successive days, to establish consistent measurements on psychophysical tests, such as visual acuity.
Measured: 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jul 2018
- Study startJun 2015
- Primary completionJan 2030 (estimated)
- Study completionJan 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Retinal Dystrophy Due to RPE65 MutationsStudies of the same condition, open and under way.
- More trials run by Genentech, Inc.The sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 41 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genentech, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Tomas Aleman, MD, Principal investigator, University of PennsylvaniaStephen Russell, MD, Principal investigator, University of Iowa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03602820
- Sponsor's protocol ID
- XR45661
- Other IDs
- AAV2-hRPE65v2-LTFU-01
- Status last verified
- Jul 2026
- First submitted
- 18 Jul 2018
- Last updated
- 19 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Long-Term Follow-Up Study in Subjects Who Received an Adenovirus-Associated Viral Vector Serotype 2 Containing the Human RPE65 Gene (AAV2-hRPE65v2, Voretigene Neparvovec-rzyl) Administered Via Subretinal Injection
- ClinicalTrials.gov ID
- NCT03602820
- Acronym / sponsor ID
- XR45661
- Keywords
- Leber congenital amaurosis, retinitis pigmentosa
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 41 participants (actual)
- Lead sponsor
- Genentech, Inc.Industry (pharma, biotech, devices)
- Study start
- Jun 2015 (actual)
- Primary completion
- Jan 2030 (estimated)
- Study completion
- Jan 2030 (estimated)
- First posted
- 27 Jul 2018 (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.
Multi-site, non-randomized, observational study, for up to 15 years after subretinal AAV2-hRPE65v2 administration for each subject. The study is a non-interventional, follow-up study of subjects who participated in previous AAV2-hRPE65v2 gene therapy clinical trials.
Detailed description
This is an observational follow-up study of subjects who participated in previous Phase 1 and Phase 3 clinical trials of AAV2-hRPE65v2 gene therapy (voretigene neparvovec-rzyl) to evaluate long term durability and safety for 15 years after subretinal administration.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals who received the subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl) in the Phase 1 or Phase 3 clinical trials
Key inclusion criteria (1 listed)
- 1. Subjects who participated in prior subretinal AAV2-hRPE65v2 gene therapy clinical studies
Key exclusion criteria (2 listed)
- Subjects who will not consent for study.
- Subjects who the investigators believe are not capable of performing study assessments
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 |
|---|---|---|
| AAV2-hRPE65v2Also: Voretigene Neparvovec-rzyl | Biological | – |
Primary outcome
Mobility testing, Bilateral
Time frame: 15 years
Mobility testing will be videotaped at each study visit at which it is conducted. Independent reviewers may grade subjects' mobility videos. Graders will use a defined combination of speed and accuracy to grade each course attempt at a given light intensity. The course will be re-configured between each attempt, using twelve standardized templates, to reduce the impact of a potential learning effect. Each subject will be tested, using both eyes, under at least two and sometimes three different (specified) lighting conditions. The levels of light, selected to span lighting conditions that individuals encounter in daily life, range from a studio with floodlights (400 lux) or a brightly lit office (250 lux) down to a poorly lit sidewalk at night (1 lux).
3 secondary outcomes
Full-field light sensitivity threshold (FST) testing
Time frame: 15 years
Mobility testing, Monocular
Time frame: 15 years
Visual acuity
Time frame: 15 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Aug 2026.
Related trials for Inherited Retinal Dystrophy Due to RPE65 Mutations
Active, not recruitingPhase 3
Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
Inherited Retinal Dystrophy Due to RPE65 Mutations, Leber Congenital Amaurosis
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.
Tomas Aleman, MD principal investigator
University of Pennsylvania
Stephen Russell, MD principal investigator
University of Iowa
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Retinal Dystrophy Due to RPE65 Mutations, run by Genentech, Inc..
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 1 inclusion and 2 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: under way, not looking for participants, as of the sponsor's last update on 19 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
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.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
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?
Mobility testing, Bilateral (time frame: 15 years). 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 19 Aug 2026.