No registrations found.
ID
Source
Brief title
Health condition
RPE65-associated inherited retinal degenerations (IRDs).
Sponsors and support
Intervention
Outcome measures
Primary outcome
Full-field stimulus testing (FST) at 1 year.
Secondary outcome
Multi-luminance mobility test (MLMT) .
Best corrected visual acuity.
Perimetry, kinetic (all patients) and static (if feasible).
Background summary
Rationale: RPE65-associated inherited retinal degenerations (IRDs) are rare, and account for 5−10% of all autosomal recessive childhood-onset IRDs. Visual function of these patients can vary early in life, but inevitably deteriorates towards blindness. Gene therapy with voretigene neparvovec (Luxturna®) was approved by the US Food and Drug Administration (FDA) in 2017 and by the European Medicines Agency (EMA) in 2018.
Objective: To collect long-term, real world data on safety and efficacy of gene therapy with voretigene neparvovec (Luxturna®).
Study design: Multi-center prospective, observational study; follow-up (FU): 5 years.
Study population: Patients with bi-allelic RPE65 mutations treated with voretigene neparvovec.
Intervention: The treatment with voretigene neparvovec itself is not considered as an intervention for the purpose of this study.
Main study parameters/endpoints: Full-field stimulus testing (FST) at 1 year.
Study objective
Voretigene neparvovec (Luxturna®) improves visual function.
Study design
Baseline, day 30, 90, 180, and year 1 to 5.
Intervention
Treatment with voretigene neparvovec is not considered as an intervention for the purpose of this study.
Rene Wubbels
010 4023430
r.wubbels@oogziekenhuis.nl
Rene Wubbels
010 4023430
r.wubbels@oogziekenhuis.nl
Inclusion criteria
- Be able to cooperate.
- Informed consent.
- Clinical diagnosis of IRD with confirmed bi-allelic RPE65 mutations.
- Clinical evidence of viable retinal tissue (RPE cells, photoreceptors, and downstream ganglion cells) as target. Patients have to have more than one
characteristic:
1. total retinal thickness > 100 µm in the posterior pole (OCT).
2. area without atrophy of at least three disc diameters (funduscopy).
3. residual island in the central visual field (within 30º of central fixation; Goldmann).
- Recordable FST.
- Scheduled to receive treatment with Luxturna®.
Exclusion criteria
- None specified.
Design
Recruitment
IPD sharing statement
Followed up by the following (possibly more current) registration
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL9321 |
| CCMO | NL76234.000.21 |
| OMON | NL-OMON50929 |