Long-term Follow-up Study in Subjects Who Received Voretigene Neparvovec-rzyl (AAV2-hRPE65v2)

April 15, 2025 updated by: Spark Therapeutics, Inc.

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Active, not recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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 Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
41

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals who received the subretinal administration of AAV2-hRPE65v2 (voretigene neparvovec-rzyl) in the Phase 1 or Phase 3 clinical trials

Description

Inclusion Criteria:

1. Subjects who participated in prior subretinal AAV2-hRPE65v2 gene therapy clinical studies

Exclusion Criteria:

  1. Subjects who will not consent for study.
  2. Subjects who the investigators believe are not capable of performing study assessments

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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).
15 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Full-field light sensitivity threshold (FST) testing
Time Frame: 15 years
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.
15 years
Mobility testing, Monocular
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 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).
15 years
Visual acuity
Time Frame: 15 years
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.
15 years

Other Outcome Measures

Other Outcome Measures

For clinical trials, a planned measurement described in the protocol that is used to determine the effect of an intervention/treatment on participants. For observational studies, a measurement or observation that is used to describe patterns of diseases or traits, or associations with exposures, risk factors, or treatment. Types of outcome measures include primary outcome measure and secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Visual field testing - Humphrey and/or Goldmann
Time Frame: 15 years
Visual field parameters will evaluate alterations in function of different regions of the retina; kinetic fields will be measured with Goldmann perimetry and static fields with Humphrey computerized testing.
15 years
Visual function questionnaire
Time Frame: 15 years
The gene therapy study investigators developed a questionnaire relevant to the deficit experienced by patients with RPE65 gene mutations. This patient-reported outcome consists of 25 questions pertaining to activities of daily living that are dependent upon vision or have a vision component. Subjects and/or their parent or guardian will be asked to provide all responses regarding the perceived degree of difficulty of these activities of daily living.
15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Spark Therapeutics, Inc.

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Albert Maguire, MD, University of Pennsylvania
  • Principal Investigator: Stephen Russell, MD, University of Iowa

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
June 1, 2015

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
January 1, 2030

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
January 1, 2030

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
July 18, 2018

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 18, 2018

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
July 27, 2018

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
April 18, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 15, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • AAV2-hRPE65v2-LTFU-01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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Conditions

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