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dc.creatorGouya, L. (Laurent)-
dc.creatorVentura, P. (Paolo)-
dc.creatorMontgomery-Bissell, D. (D.)-
dc.creatorRees, D.C. (David C.)-
dc.creatorStölzel, U. (Ulrich)-
dc.creatorPhillips, J.D. (John D.)-
dc.creatorKauppinen, R. (Raili)-
dc.creatorLangendonk, J.G. (Janneke G.)-
dc.creatorDesnick, R.J. (Robert J.)-
dc.creatorDeybach, J.C. (Jean-Charles)-
dc.creatorBonkovsky, H.L. (Herbert L.)-
dc.creatorParker, C. (Charles)-
dc.creatorNaik, H. (Hetanshi)-
dc.creatorBadminton, M. (Michael)-
dc.creatorStein, P.E. (Penelope E.)-
dc.creatorBalwani, M. (Manisha)-
dc.creatorMinder, E. (Elisabeth)-
dc.creatorWindyga, J. (Jerzy)-
dc.creatorBruha, R. (Radan)-
dc.creatorCappellini, M.D. (Maria Domenica)-
dc.creatorSardh, E. (Eliane)-
dc.creatorHarper, P. (Pauline)-
dc.creatorSandberg, S. (Sverre)-
dc.creatorAarsand, A.K. (Aasne K.)-
dc.creatorAndersen, J. (Janice)-
dc.creatorAlegre, F. (Félix)-
dc.creatorIvanova, A. (Aneta)-
dc.creatorTalbi, N. (Neila)-
dc.creatorChan, A. (Amy)-
dc.creatorQuerbes, W. (William)-
dc.creatorKo, J. (John)-
dc.creatorPenz, C. (Craig)-
dc.creatorLiu, S. (Shanbing)-
dc.creatorLin, T. (Tim)-
dc.creatorSimon, A. (Amy)-
dc.creatorAnderson, K.E. (Karl E.)-
dc.date.accessioned2023-05-17T06:49:00Z-
dc.date.available2023-05-17T06:49:00Z-
dc.date.issued2020-
dc.identifier.citationGouya, L. (Laurent); Ventura, P. (Paolo); Montgomery-Bissell, D. (D.); et al. "EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks". Hepatology. 71 (5), 2020, 1546 - 1558es
dc.identifier.issn0270-9139-
dc.identifier.urihttps://hdl.handle.net/10171/66270-
dc.description.abstractBACKGROUND AND AIMS: Acute hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved in heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, and long-term complications. There is a lack of multinational, prospective data characterizing the disease and current treatment practices in severely affected patients. APPROACH AND RESULTS: EXPLORE is a prospective, multinational, natural history study characterizing disease activity and clinical management in patients with acute hepatic porphyria who experience recurrent attacks. Eligible patients had a confirmed acute hepatic porphyria diagnosis and had experienced ≥3 attacks in the prior 12 months or were receiving prophylactic treatment. A total of 112 patients were enrolled and followed for at least 6 months. In the 12 months before the study, patients reported a median (range) of 6 (0-52) acute attacks, with 52 (46%) patients receiving hemin prophylaxis. Chronic symptoms were reported by 73 (65%) patients, with 52 (46%) patients experiencing these daily. During the study, 98 (88%) patients experienced a total of 483 attacks, 77% of which required treatment at a health care facility and/or hemin administration (median [range] annualized attack rate 2.0 [0.0-37.0]). Elevated levels of hepatic δ-aminolevulinic acid synthase 1 messenger ribonucleic acid levels, δ-aminolevulinic acid, and porphobilinogen compared with the upper limit of normal in healthy individuals were observed at baseline and increased further during attacks. Patients had impaired quality of life and increased health care utilization. CONCLUSIONS: Patients experienced attacks often requiring treatment in a health care facility and/or with hemin, as well as chronic symptoms that adversely influenced day-to-day functioning. In this patient group, the high disease burden and diminished quality of life highlight the need for novel therapies. (Hepatology 2020;71:1546-1558).es_ES
dc.description.sponsorshipPotential conflict of interest: Dr. Gouya received grants from Alnylam. Dr. Ventura consults for, advises, and received grants from Alnylam. He consults for and received grants from Recordati. Dr. Balwani consults for and received grants from Alnylam. She consults for Recordati. Dr. Rees consults and is on the speakers’ bureau for Alnylam. Dr. Kauppinen owns stock in Orion. Dr. Bonkovsky consults for and received grants from Alnylam. He consults for Recordati. Dr. Desnick consults for and received grants from Alnylam and Recordati. Dr. Deybach consults for Alnylam. Dr. Naik consults for and advises Alnylam. Dr. Stein received grants from Alnylam. Dr. Harper received grants from Alnylam. Dr. Minder consults for Alnylam. Dr. Sardh received grants from Alnylam. Dr. Windyga received grants from Alnylam. Dr. Anderson consults for, advises, and received grants from Alnylam, Recordati, and Mitsubishi. Dr. Chan is employed by and owns stock in Alnylam. Dr. Ko is employed by and owns stock in Alnylam. Dr. Liu is employed by and owns stock in Alnylam. Dr. Penz is employed by and owns stock in Alnylam. Dr. Querbes owns stock in Alnylam. Dr. Sandberg advises Alnylam. Dr. Simon is employed by and owns stock in Alnylam.es_ES
dc.language.isoenges_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.titleEXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attackses_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.description.noteCC-BY-NC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.es_ES
dc.identifier.doi10.1002/hep.30936-
dadun.citation.endingPage1558es_ES
dadun.citation.number5es_ES
dadun.citation.publicationNameHepatologyes_ES
dadun.citation.startingPage1546es_ES
dadun.citation.volume71es_ES

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