Molécules chaperons : exemple de la maladie de Fabry (notice n° 759935)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03696cam a2200313 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250123102022.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Barbey, Frédéric |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Molécules chaperons : exemple de la maladie de Fabry |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2021.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 91 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | La maladie de Fabry est due à des mutations du gène GLA à l’origine d’un déficit de l’activité de l’enzyme lysosomale alpha-galactosidase A (α-gal A) et de l’accumulation intra-tissulaire de globotriaosylcéramide. Une nouvelle approche thérapeutique utilisant le chaperon pharmacologique migalastat a été récemment développée. Ce dernier se fixe, de manière spécifique et réversible, sur le site catalytique d’α-gal A mutées, mal conformées, afin d’éviter leur dégradation par le système contrôle-qualité du réticulum endoplasmique et leur permettre de cataboliser le globotriaosylcéramide dans les lysosomes. Ce traitement concerne environ 35 % des mutations du gène GLA reconnues comme sensible au migalastat selon un test pharmacogénétique in vitro. Deux études pivot de phase III, FACETS : migalastat vs. placebo et ATTRACT : migalastat vs. enzymothérapie ont analysé les effets in vivo du migalastat. Malgré certaines limitations méthodologiques, des résultats prometteurs ont été constatés. Le migalastat semble plus efficace que l’enzymothérapie à réduire l’indice de masse du ventricule gauche calculé par échocardiographie en cas d’hypertrophie cardiaque et présente des effets rénaux comparables. Ce traitement oral est le premier traitement personnalisé, axé sur le profil génétique du patient Fabry et ouvre une nouvelle ère dans la prise en charge des maladies conformationnelles. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Fabry disease is due to mutations in the GLA gene that cause a deficiency of the activity of the lysosomal enzyme alpha-galactosidase A (α-gal A) resulting in intra-tissue accumulation of globotriaosylceramide. Recently, a novel therapeutic approach based on the pharmacological chaperone migalastat has been developed. It binds, in a specific and reversible manner, to the catalytic site of α-gal A mutants, to prevent their degradation by the quality control system of the endoplasmic reticulum and allow them to catabolize globotriaosylceramide in the lysosomes. This treatment concerns approximately 35% of the GLA gene mutations recognized as sensitive to migalastat according to an in vitro pharmacogenetic test. Two pivotal Phase III studies, FACETS: migalastat vs. placebo and ATTRACT: migalastat vs. enzyme replacement therapy analyzed the in vivo effects of migalastat. Despite some methodological limitations, promising results were found. Migalastat seems to be more effective than enzyme replacement therapy in reducing left ventricular mass index in case of cardiac hypertrophy and has comparable renal effects. This oral treatment is the first personalized treatment, based on the genetic profile of Fabry patients and opens a new era in the management of conformational diseases. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Maladie de Fabry |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Agalsidase |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Molécule chaperon |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Migalastat |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Traitement enzymatique |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Enzyme therapy |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Agalsidase |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Fabry disease |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Migalastat |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Chaperone |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monney, Pierre |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dormond, Olivier |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Néphrologie & Thérapeutique | Volume 17 | N° Supp 1 | 2021-01-15 | p. 11-22 | 1769-7255 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-nephrologie-et-therapeutique-2021-HS1-page-11?lang=fr&redirect-ssocas=7080">https://shs.cairn.info/revue-nephrologie-et-therapeutique-2021-HS1-page-11?lang=fr&redirect-ssocas=7080</a> |
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