Verfahren zur Verbesserung der Herzfunktion bei Arrhythmogener Rechtsventrikulärer Kardiomyopathie vom Typ 5
Anmelder: Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.), Fundación para la Investigación Biomédica del Hospital Universitario Puerta de Hierro Majadahonda, University of Florida Research Foundation, Incorporated 🇪🇸
Details
- Veröffentlichungs-Nr.
- EP4775228
- Anmeldetag
- 8. Januar 2025
- Veröffentlichung
- 15. Juli 2026
- Rechtsraum
- EP
Abstract
Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is the most aggressive type of ARVC, caused by a fully penetrant missense mutation (p.S358L) in TMEM43. Pathologically, the disease is characterized by dilation of the cardiac chambers and fibro-fatty replacement of the myocardium, which results in heart failure and sudden cardiac death. Current therapeutic options are limited and no specific therapies targeting the primary cause of the disease have been proposed. Overexpression of WT-TMEM43 and a codon-optimized self-complementary adeno-associated virus (AAV) bearing WT-TMEM43 improve the pathological phenotype of ARVC5, offering a promising and specific therapy for patients suffering from this highly lethal disease.
Anmelder
- Firmen
- Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)
Fundación para la Investigación Biomédica del Hospital Universitario Puerta de Hierro Majadahonda
University of Florida Research Foundation, Incorporated - Land
- 🇪🇸 Spanien
Non-profit-Organisation der University of Florida (USA) zur Verwaltung und Vermarktung von Forschungsergebnissen und Patenten der Universität.
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