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NCT05793515
Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
trial testing whole genome sequencing in Inherited Retinal Dystrophy in 120 participants. Completed in 2 November 2024.
2 November 2024
Quick facts
| Lead sponsor | Istituto Superiore di Sanità |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 120 |
| Start date | 15 November 2022 |
| Primary completion | 2 November 2024 |
| Estimated completion | 2 November 2024 |
| Sites | 1 location across Italy |
Drugs / interventions tested
- whole genome sequencing
Conditions studied
- Inherited Retinal Dystrophy — all drugs for Inherited Retinal Dystrophy →
- Retinitis Pigmentosa — all drugs for Retinitis Pigmentosa →
- Macular Dystrophy — all drugs for Macular Dystrophy →
Sponsor
Istituto Superiore di Sanità — full company profile →
Who can join
Adults 5 to 80, any sex, with Inherited Retinal Dystrophy or Retinitis Pigmentosa. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
Inherited retinal dystrophies (IRDs), a large group of heterogeneous and rare disorders, may result in irreversible bilateral visual loss and blindness. Characterizing the genetic bases of IRDs will help to understand the pathogenesis underlying the development of retinal damage. Despite the advances in molecular identification of genes causing disease, unsolved IRDs constitute about 40% of all cases. Goal of this study is to solve missing heritability in IRD using whole genome sequencing (WGS) to identify the genetic causes in clinically well-characterized patients without a molecular diagnosis. The identification of novel genes that have a role in the development or maintenance of retinal function will lead to the development of new therapeutic approaches and will favour a more prompt diagnosis and improvement of patient management.
Publications & conference data
4 peer-reviewed publications reference this trial (live from Europe PMC):
-
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M, Lauri A, Zhen Y, Gramegna LL, et al · · 2024 · cited 11× · PMID 38423010 · DOI 10.1016/j.ajhg.2024.02.005 -
A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization
Stellacci E, Ziccardi L, Bruselles A, Dell’Aquila C, et al · · 2026 -
Biallelic <i>BAIAP3</i> Variants Are Associated with Isolated Retinitis Pigmentosa.
Cordeddu V, Flex E, Mignini L, Bruselles A, et al · · 2025 · PMID 40943168 · DOI 10.3390/ijms26178244 -
Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of <i>BBS9</i>.
Stellacci E, Niceta M, Bruselles A, Straface E, et al · · 2024 · PMID 39125883 · DOI 10.3390/ijms25158313
Verify or expand the search:
- PubMed search for NCT05793515
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT05793515 (US National Library of Medicine, public domain)
- Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Istituto Superiore di Sanità
- Last refreshed: 18 April 2025
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