Voretigene neparvovec (Luxturna®) improves visual function.
ID
Bron
Verkorte titel
Aandoening
RPE65-associated inherited retinal degenerations (IRDs).
Ondersteuning
Onderzoeksproduct en/of interventie
Uitkomstmaten
Primaire uitkomstmaten
Full-field stimulus testing (FST) at 1 year.
Achtergrond van het onderzoek
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.
Doel van het onderzoek
Voretigene neparvovec (Luxturna®) improves visual function.
Onderzoeksopzet
Baseline, day 30, 90, 180, and year 1 to 5.
Onderzoeksproduct en/of interventie
Treatment with voretigene neparvovec is not considered as an intervention for the purpose of this study.
Publiek
Rene Wubbels
010 4023430
r.wubbels@oogziekenhuis.nl
Wetenschappelijk
Rene Wubbels
010 4023430
r.wubbels@oogziekenhuis.nl
Belangrijkste voorwaarden om deel te mogen nemen (Inclusiecriteria)
- 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®.
Belangrijkste redenen om niet deel te kunnen nemen (Exclusiecriteria)
- None specified.
Opzet
Deelname
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In overige registers
| Register | ID |
|---|---|
| NTR-new | NL9321 |
| CCMO | NL76234.000.21 |
| OMON | NL-OMON50929 |