İki Alelli RPE65 Mutasyonuyla İlişkili Retina Distrofisi Olan Japon Hastalarda Voretigene Neparvovec'in Etkinliği ve Güvenliği Çalışması

Sade dilde özet

Bu çalışma, iki alelli RPE65 mutasyonuyla ilişkili retina distrofisi (retinal dystrophy) olan Japon hastalarda voretigene neparvovec adlı bir gen terapisinin etkinliğini ve güvenliğini incelemiştir. Çalışmaya, RPE65 mutasyonu moleküler olarak doğrulanmış, dört yaş ve üzeri, görme keskinliği veya görme alanı belirli düzeyde etkilenmiş katılımcılar alınmıştır. Çalışma Faz 3 aşamasında yürütülmüş ve tamamlanmıştır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

Faz 3 (Phase 3)

Durum

Tamamlandı

Sponsor

Novartis Pharmaceuticals

Müdahale

voretigene neparvovec

Başlangıç

24.11.2020

Tahmini bitiş

19.05.2026

Ülkeler

Japan

İlgili genler

Merkezler

• Meguro-ku, Japan

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

* Japanese participants with biallelic RPE65 mutation-associated retinal dystrophy; molecular diagnosis of RPE65 mutation must be confirmed by a Novartis designated laboratory in Japan.
* Age four years or older.
* Visual acuity worse than 20/60 (both eyes) and/or visual field less than 20 degrees in any meridian as measured by a III4e isopter or equivalent (both eyes).
* Sufficient viable retinal cells as determined by non-invasive means, such as optical coherence tomography (OCT) and/ or ophthalmoscopy. Must have either:

  * An area of retina within the posterior pole of \> 100 µm thickness shown on OCT, or
  * ≥ 3 disc areas of retina without atrophy or pigmentary degeneration within the posterior pole, or
  * Remaining visual field within 30 degrees of fixation as measured by a III4e isopter or equivalent

Exclusion Criteria:

* Any prior participation in a study in which a gene therapy vector was administered.
* Participation in a clinical study with an investigational drug in the past 6 months from screening visit.
* Known hypersensitivity to any of the study treatments including excipients or to medications planned for use in the peri-operative period.
* Unable to reliably perform the FST assessment.
* Use of retinoid compounds or precursors that could potentially interact with the biochemical activity of the RPE65 enzyme in the past 6 months from screening visit.
* Prior intraocular surgery within 6 months from screening visit.
* Prior use of any medicines that, in the opinion of the investigator, may have caused retinal damage (e.g., sildenafil or related compounds, hydroxychloroquine, chloroquine, thioridazine, any other retino-toxic compounds)
* Pre-existing eye conditions or complicating systemic diseases that would preclude the planned surgery or interfere with the interpretation of study. Complicating systemic diseases would include those in which the disease itself, or the treatment for the disease, can alter ocular function.