Intravitreal enzyme replacement for inherited retinal diseases.
| Autor: | Rodriguez-Martinez AC; UCL Institute of Ophthalmology.; Moorfields Eye Hospital NHS Foundation Trust.; Great Ormond Street Hospital for Children NHS Foundation Trust., Wawrzynski J; Moorfields Eye Hospital NHS Foundation Trust.; Great Ormond Street Hospital for Children NHS Foundation Trust.; UCL-Great Ormond Street Institute of Child Health, London, UK., Henderson RH; Moorfields Eye Hospital NHS Foundation Trust.; Great Ormond Street Hospital for Children NHS Foundation Trust.; UCL-Great Ormond Street Institute of Child Health, London, UK. |
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| Jazyk: | angličtina |
| Zdroj: | Current opinion in ophthalmology [Curr Opin Ophthalmol] 2024 May 01; Vol. 35 (3), pp. 232-237. Date of Electronic Publication: 2023 Dec 26. |
| DOI: | 10.1097/ICU.0000000000001029 |
| Abstrakt: | Purpose of Review: This paper provides an update on intravitreal (IVT) enzyme replacement therapy (ERT) in metabolic retinal diseases; particularly neuronal ceroid lipofuscinosis type 2 (CLN2) also known as Batten disease. Recent Findings: ERT is being explored in CLN2 related Batten disease, a fatal neurodegenerative condition associated with retinopathy and blindness that is caused by the deficiency of lysosomal enzyme TPP1. Cerliponase alfa, a recombinant human tripeptidyl-peptidase1 (rhTPP1) administered by intraventricular infusions has been demonstrated to slow the rate of neurodegenerative decline but not retinopathy. A preclinical study of IVT rhTPP1 in a CLN2 canine model demonstrated efficacy in preserving retinal function and retinal morphology shown on histology. More recently, intravitreal (IVT) administration of rhTPP1 was reported in a first-in-human compassionate use study. Patients received 12-18 months of 8-weekly IVT ERT (0.2 mg rhTPP-1 in 0.05 ml) in one eye. No significant ocular adverse reactions were reported. Treatment decreased the rate of retinal thinning but modestly. Summary: The evidence suggests that IVT ERT with rhTPP1 may be a safe and effective treatment for CLN2 retinopathy. However, the optimal dosage and frequency to achieve the best possible outcomes requires further investigation as does patient selection. (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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