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Master Thesis

Arrêt de l’enzymothérapie dans le cadre des MPSIIA : approche des questions éthiques soulevées par les nouvelles thérapies dans les maladies rares

Abstract : MPSII, or Hunter syndrome, is a multisystemic and progressive X linked lysosomal storage disease. It is a rare condition with an incidence of approximately 1:80,000 births in France. Severe neurodegenerative forms (MPSIIA) are characterized by a progressive central nervous system involvement and a severe cognitive impairment with important behavioral disturbance. Intravenous Idursulfase is a specific ERT for MPSII and has been available for use in France since 2007. This drug has been shown to provide somatic improvements but do not cross the blood-brain barrier. Neurological symptoms and degeneration remain ineluctable and irreversible. Currently, we can notice a paradigm shift in the management of MPSII. In fact, historically MPSII has been a very rare disease within specific treatment possibility, and management was palliative. But since ERT, we seemed to have induced chronicization and increased medicalization of patients by failing to cure and restore a normal condition. ERT withdrawal remains challenging and subject of debate in MPSII management despite the attempt of some guidelines. The aim of the study was to investigate the motivations and ethical implications regarding ERT withdrawal decisions in France. We conduct a qualitative study during 6 months: 10 french experts in management of MPSII patients were invited to participate to a semi-structured interview with a specific guide, based on a review of literature. A thematic analysis was performed. We discuss how the aim of traitement, tolerance, cost, primary child interest, transparency, close follow-up without the facility of prescription, feelings of parents, over-optimism (hype), and the major uncertainty around evolution should be balanced and explain the issues and ethical challenges. Those ethical considerations revealed how new therapies can modify the natural course of a rare disease and bring new challenges for decision making for patient, caregivers, families and society.
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Master Thesis
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Submitted on : Tuesday, December 1, 2020 - 2:49:21 PM
Last modification on : Thursday, March 25, 2021 - 5:50:02 PM
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  • HAL Id : dumas-02513361, version 1


Eugénie Sarda. Arrêt de l’enzymothérapie dans le cadre des MPSIIA : approche des questions éthiques soulevées par les nouvelles thérapies dans les maladies rares. Ethique. 2019. ⟨dumas-02513361⟩



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