Stargardt Hastalığı (STGD1) Olan Kişilerde Retina Altına SB-007 Enjeksiyonunun Güvenliliğini, Tolere Edilebilirliğini ve Ön Etkililiğini Değerlendiren Faz 1/2, İnsanda İlk Kez Doz Artırma/Genişletme Çalışması

Sade dilde özet

Bu çalışma, ABCA4 genindeki mutasyonların neden olduğu Stargardt hastalığı (Stargardt disease, STGD1) olan kişilerde retina altına uygulanan SB-007 gen terapisinin güvenliliğini, tolere edilebilirliğini ve ön etkililiğini değerlendirmektedir. İnsanda ilk kez uygulanan çalışmaya, genetik testle doğrulanmış tanısı olan, genellikle 12-65 yaş arası kişiler alınmaktadır. Faz 1/Faz 2 aşamasında yürütülmekte ve halen katılımcı almaktadır.

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

Deney bilgileri

Faz

PHASE1/PHASE2

Durum

Katılımcı alıyor

Sponsor

Splice Bio

Müdahale

SB-007

Başlangıç

11.02.2025

Tahmini bitiş

31.12.2028

Ülkeler

United States

İlgili genler

Merkezler

• Aurora, United States
• Miami, United States
• Boston, United States
• Portland, United States
• Dallas, United States

Uygunluk kriterleri

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

Inclusion Criteria:

To be eligible for study participation, subjects must meet the following criteria:

1. Provide written consent. Subjects under legal age will also provide informed assent according to guidelines set forth by the same.
2. Are male or female adolescents and adults, aged as follows:

   1. In Part A, subjects will be ≥18 to ≤65\* years (inclusive)
   2. In Part B, subject age is planned as ≥12 to ≤65\* years (inclusive) \*Subjects aged \>65 years may be eligible in Parts A and B, following discussion with, and approval by, the Medical Monitor.
3. Are able to understand and comply with the study procedures.
4. Have a diagnosis of STGD1 caused by bi-allelic pathogenic, or likely pathogenic, variants in the ABCA4 gene confirmed genotypically by an accredited genetic testing laboratory
5. Clinical evidence consistent with Stargardt Disease type 1.
6. For women of child-bearing potential (WOCBP), have a negative pregnancy test at Screening and, if due to receive active treatment, at Day 0.
7. For both WOCBP and male subjects (or their female partners who are of child-bearing potential), agree to either strict abstinence or, if sexually active, use an acceptable contraception measure for 3 months from Day 0
8. Must have clear ocular media and adequate pupillary dilation in the study eye, including no allergy to dilating eyedrops, to permit good quality retinal imaging.
9. Fulfil visual acuity criteria based on ETDRS letter chart
10. Fulfil baseline lesion size measurement, as measured by the Reading Center
11. Evidence of disease progression as determined by the Medical Monitor following consultation with the Investigator.

Exclusion Criteria:

Subjects must be excluded from participating in the study if they:

1. Have had any intraocular surgery (including cataract surgery) or thermal laser within 90 days of the Screening Visit or planned intraocular surgery (including cataract surgery) or thermal laser during the period of the study, in the study eye.
2. Have had any major surgical procedure within 30 days of the Screening Visit or planned or anticipated major surgery during the period of the study.
3. Have two pathogenic or likely pathogenic variants in IRD genes (other than ABCA4) or a single pathogenic or likely pathogenic variant in autosomal dominant or X-linked IRD genes.
4. Have a history of amblyopia in the study eye.
5. Are unwilling to stop taking the following products at Screening and throughout the study:

   1. Supplements containing vitamin A or beta-carotene, liver-based products.
   2. Prescription oral retinoids. Topical products containing vitamin A or retinoids are not exclusionary.
6. Have any ophthalmic history of gene therapy, stem cell therapy, surgical implantation of prosthetic retinal chips, or intravitreal or sub-retinal or supra-choroidal injections.
7. Have received any investigational therapy within 90 days of the Screening Visit or 5 half-lives, whichever is longer.
8. Have known serious allergies to the fluorescein dye that might be used to measure IOP, ocular dilating drops, topical ocular anesthetic, steroid medication, or components of the SB-007 formulation.
9. Have any significant ocular or non-ocular disease/disorder which, in the opinion of the Investigator and with concurrence of the Medical Monitor, may either put the subject at risk because of participation in the study, may influence the results of the study, or affect the subject's ability to participate in the study.
10. Are an immediate family member (e.g., child, sibling) of the Sponsor or study site personnel.