04172 Functional changes in the central nervous system in a non-human primate model of AIP can be fully rescued by systemic messenger RNA replacement therapy

from liver function analyses (transaminases decreased from 3x ULN to normal values).Ferritin was used as index to monitor iron status obtaining a significant reduction after 2 months from 700 ng/ml to 81 ng/ml (v.n.= 13-400 mg/ml).Patient had an improvement of lesions on the scalp and in photoexposed areas.The clinical tolerance was excellent for patient without any adverse effect to report.Conclusion This is the first report in the literature applying a successfull protocol in a higly uncommom form of porphyria, hence the importance of the case.Higher tolerance to the sun induced by afamelanotide reduced phototoxic chronic damage.If therapy was established precociously, some irreversibile damages, such as phalanges mutilation, could have been reduced and also palpebral ectropion.It suggests that early diagnosis and treatment might prevent the occurrence of devastating and severe consequences of HEP.

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Published
2024-09-01
DOI
https://doi.org/10.1136/bmjgast-2024-icpp.16
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

04172 Functional changes in the central nervous system in a non-human primate model of AIP can be fully rescued by systemic messenger RNA replacement therapy

Gemma Quincoces, María Collantes, Iván Peñuelas, Matías A. Ávila et al.
Metabolism and Genetic Disorders
article

04172 Functional changes in the central nervous system in a non-human primate model of AIP can be fully rescued by systemic messenger RNA replacement therapy

Gemma Quincoces, María Collantes, Iván Peñuelas, Matías A. Ávila, Oscar Manzanilla, Alberto J. Rico, Francesco Urigo, Paolo G.V. Martini, Estíbaliz Alegre, Lei Jiang, Antonio Martínez-Cuesta, Daniel Jericó, Antonio Fontanellas, Karol M. Córdoba, Ana Sampedro, Jose Luiz Lanciego
article en

Abstract

from liver function analyses (transaminases decreased from 3x ULN to normal values).Ferritin was used as index to monitor iron status obtaining a significant reduction after 2 months from 700 ng/ml to 81 ng/ml (v.n.= 13-400 mg/ml).Patient had an improvement of lesions on the scalp and in photoexposed areas.The clinical tolerance was excellent for patient without any adverse effect to report.Conclusion This is the first report in the literature applying a successfull protocol in a higly uncommom form of porphyria, hence the importance of the case.Higher tolerance to the sun induced by afamelanotide reduced phototoxic chronic damage.If therapy was established precociously, some irreversibile damages, such as phalanges mutilation, could have been reduced and also palpebral ectropion.It suggests that early diagnosis and treatment might prevent the occurrence of devastating and severe consequences of HEP.

Moderna Therapeutics (United States) (US), Navarre Institute of Health Research (ES), Clinica Universidad de Navarra (ES), University of Pamplona (CO), Universidad de Navarra (ES), Chartered Institute of Management Accountants (GB)
Openalex Percentile: Top 77%
Metabolism and Genetic Disorders
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