Confirmed Biallelic RPE65 Mutation-associated Retinal DystrophyNCT03597399
A Patient Registry Study for Patients Treated With Voretigene Neparvovec in US
An observational study of Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy, run by Spark Therapeutics, Inc. at 10 sites in United States.
Trial summary
The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant use of corticosteroids, or a combination of these procedures and products. Read more about this study
- Who is it for?
- Ages 12 months and older
- Conditions the study is for
- Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy
- What is being tested?
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- How many people
- 87 participants
- Where
- 10 sitesUnited States
- Study dates
- 10 Jan 2019to 30 Jun 2025
- How long will I take part?
- 5 Years
- Phase
- Observational
- 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 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals who received voretigene neparvovec-rzyl in at least one eye.
Who may be able to join
- Received voretigene neparvovec-rzyl in at least one eye.
- Signed informed consent/assent (when applicable). These are obtained as required under institutional policies and applicable laws and regulations unless a consent waiver is obtained from the Institutional Review Board (IRB)/Independent Ethics Committee (IEC).
Who cannot join
- 1. Previously participated in, or are currently participating in, a Spark Therapeutics clinical trial and received voretigene neparvovec-rzyl in both eyes.
Trial locations and contacts
10 sites in 1 country.
10 sites in 1 country
United States10 sites
Kellogg Eye Center
Ann Arbor, Michigan, 48105
Massachusetts Eye and Ear Institute
Boston, Massachusetts, 02114
Cincinnati Eye Institute
Cincinnati, Ohio, 45242
Cullen Eye Institute
Houston, Texas, 77030
University of Iowa Hospitals & Clinics
Iowa City, Iowa, 52242
Children's Hospital of Los Angeles
Los Angeles, California, 90027
Bascom Palmer Eye Institute
Miami, Florida, 33136
Children's Hospital of Philadelphia (CHOP)
Philadelphia, Pennsylvania, 19104
Scheie Eye Institute
Philadelphia, Pennsylvania, 19104
Casey Eye Institute
Portland, Oregon, 97239
About this study
Official title: A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec in US
The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant use of corticosteroids, or a combination of these procedures and products.
The enrollment period will last for two years from the first treatment following product approval (through 31March2020) and include a minimum of 40 patients.
Read the detailed description
Voretigene neparvovec-rzyl is a gene therapy intended for use in individuals with confirmed biallelic RPE65 mutation-associated retinal dystrophy and viable retinal cells. Mutations in the RPE65 gene are associated with several clinical manifestations including nyctalopia, decreased visual field and decreased visual acuity. Voretigene neparvovec-rzyl uses a non-pathogenic recombinant adeno-associated virus vector serotype 2 (AAV2) to deliver cDNA encoding RPE65 protein to target cells in the retina. Voretigene neparvovec-rzyl is administered to each eye via subretinal injection. The administration of voretigene neparvovec-rzyl is recommended to be performed to each eye on separate days within a close interval. Prescribing information recommends an immunomodulatory regimen concomitant with administration, with the actual regimen dependent upon the dosing center.
This post authorization safety study will focus on further characterizing the long-term safety profile of voretigene neparvovec-rzyl in patients with RPE65 mutation-associated retinal dystrophy using an observational, longitudinal design.
- Being tested
- AAV2-hRPE65v2,voretigene neparvovec-rzyl
- Keywords
- Leber Congenital Amaurosis (LCA), Inherited Retinal Dystrophy, RPE65, Retinitis Pigmentosa (RP)
- 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-hRPE65v2,voretigene neparvovec-rzylBiological
Also called AAV2-hRPE65v2, voretigene neparvovec, gene therapy vector
Subretinal administration of gene therapy vector AAV2-hRPE65v2 (voretigene neparvovec-rzyl) to both eyes via surgical procedures on separate days.
What is being measured
The primary outcome is the main question the study is designed to answer.
Collection of all Adverse Events and Serious Adverse Events
adverse events
Measured: up to 5 years
Secondary outcomes (1)
Collection of Pregnancy Outcomes
Follow pregnancy outcomes in participants (and female partners of male participants) who received voretigene neparvovec
Measured: Up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jul 2018
- Study start10 Jan 2019
- Primary completion30 Jun 2025
- Study completion30 Jun 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Confirmed Biallelic RPE65 Mutation-associated Retinal DystrophyStudies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 87 participants (actual)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Spark Therapeutics, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Ophthalmic Lead, Study director, Spark Therapeutics, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03597399
- Sponsor's protocol ID
- SPKRPE-PASS
- Status last verified
- Sep 2025
- First submitted
- 12 Jul 2018
- Last updated
- 22 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec in US
- ClinicalTrials.gov ID
- NCT03597399
- Acronym / sponsor ID
- SPKRPE-PASS
- Keywords
- Leber Congenital Amaurosis (LCA), Inherited Retinal Dystrophy, RPE65, Retinitis Pigmentosa (RP)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 87 participants (actual)
- Lead sponsor
- Spark Therapeutics, Inc.Industry (pharma, biotech, devices)
- Study start
- 10 Jan 2019 (actual)
- Primary completion
- 30 Jun 2025 (actual)
- Study completion
- 30 Jun 2025 (actual)
- First posted
- 24 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.
The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant use of corticosteroids, or a combination of these procedures and products.
The enrollment period will last for two years from the first treatment following product approval (through 31March2020) and include a minimum of 40 patients.
Detailed description
Voretigene neparvovec-rzyl is a gene therapy intended for use in individuals with confirmed biallelic RPE65 mutation-associated retinal dystrophy and viable retinal cells. Mutations in the RPE65 gene are associated with several clinical manifestations including nyctalopia, decreased visual field and decreased visual acuity. Voretigene neparvovec-rzyl uses a non-pathogenic recombinant adeno-associated virus vector serotype 2 (AAV2) to deliver cDNA encoding RPE65 protein to target cells in the retina. Voretigene neparvovec-rzyl is administered to each eye via subretinal injection. The administration of voretigene neparvovec-rzyl is recommended to be performed to each eye on separate days within a close interval. Prescribing information recommends an immunomodulatory regimen concomitant with administration, with the actual regimen dependent upon the dosing center.
This post authorization safety study will focus on further characterizing the long-term safety profile of voretigene neparvovec-rzyl in patients with RPE65 mutation-associated retinal dystrophy using an observational, longitudinal design.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 5 Years
Who may qualify
- Ages
- 12 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals who received voretigene neparvovec-rzyl in at least one eye.
Key inclusion criteria (2 listed)
- Received voretigene neparvovec-rzyl in at least one eye.
- Signed informed consent/assent (when applicable). These are obtained as required under institutional policies and applicable laws and regulations unless a consent waiver is obtained from the Institutional Review Board (IRB)/Independent Ethics Committee (IEC).
Key exclusion criteria (1 listed)
- 1. Previously participated in, or are currently participating in, a Spark Therapeutics clinical trial and received voretigene neparvovec-rzyl in both eyes.
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-hRPE65v2,voretigene neparvovec-rzylAlso: AAV2-hRPE65v2, voretigene neparvovec, gene therapy vectorSubretinal administration of gene therapy vector AAV2-hRPE65v2 (voretigene neparvovec-rzyl) to both eyes via surgical procedures on separate days. | Biological | – |
Primary outcome
Collection of all Adverse Events and Serious Adverse Events
Time frame: up to 5 years
adverse events
1 secondary outcome
Collection of Pregnancy Outcomes
Time frame: Up to 5 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Sep 2025.
- Individual participant dataSharing planned: No
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.
Clinical Ophthalmic Lead study director
Spark Therapeutics, Inc.
10 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Confirmed Biallelic RPE65 Mutation-associated Retinal Dystrophy, run by Spark Therapeutics, Inc. at 10 sites 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 2 inclusion and 1 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 22 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites 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.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Collection of all Adverse Events and Serious Adverse Events (time frame: up to 5 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 22 Sep 2025.