EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

Show simple item record

dc.contributor.author Gouya, Laurent
dc.contributor.author Ventura, Paolo
dc.contributor.author Balwani, Manisha
dc.contributor.author Bissell, D. Montgomery
dc.contributor.author Rees, David C.
dc.contributor.author Stölzel, Ulrich
dc.contributor.author Phillips, John D.
dc.contributor.author Kauppinen, Raili
dc.contributor.author Langendonk, Janneke G.
dc.contributor.author Desnick, Robert J.
dc.contributor.author Deybach, Jean-Charles
dc.contributor.author Bonkovsky, Herbert L.
dc.contributor.author Parker, Charles
dc.contributor.author Naik, Hetanshi
dc.contributor.author Badminton, Michael
dc.contributor.author Stein, Penelope E.
dc.contributor.author Minder, Elisabeth
dc.contributor.author Windyga, Jerzy
dc.contributor.author Bruha, Radan
dc.contributor.author Cappellini, Maria Domenica
dc.contributor.author Sardh, Eliane
dc.contributor.author Harper, Pauline
dc.contributor.author Sandberg, Sverre
dc.contributor.author Aarsand, Aasne K.
dc.contributor.author Andersen, Janice
dc.contributor.author Alegre, Félix
dc.contributor.author Ivanova, Aneta
dc.contributor.author Talbi, Neila
dc.contributor.author Chan, Amy
dc.contributor.author Querbes, William
dc.contributor.author Ko, John
dc.contributor.author Penz, Craig
dc.contributor.author Liu, Shangbin
dc.contributor.author Lin, Tim
dc.contributor.author Simon, Amy
dc.contributor.author Anderson, Karl E.
dc.date.accessioned 2020-06-17T16:23:01Z
dc.date.available 2020-06-17T16:23:01Z
dc.date.issued 2020-05
dc.identifier.citation Gouya , L , Ventura , P , Balwani , M , Bissell , D M , Rees , D C , Stölzel , U , Phillips , J D , Kauppinen , R , Langendonk , J G , Desnick , R J , Deybach , J-C , Bonkovsky , H L , Parker , C , Naik , H , Badminton , M , Stein , P E , Minder , E , Windyga , J , Bruha , R , Cappellini , M D , Sardh , E , Harper , P , Sandberg , S , Aarsand , A K , Andersen , J , Alegre , F , Ivanova , A , Talbi , N , Chan , A , Querbes , W , Ko , J , Penz , C , Liu , S , Lin , T , Simon , A & Anderson , K E 2020 , ' EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks ' , Hepatology , vol. 71 , no. 5 , pp. 1546-1558 . https://doi.org/10.1002/hep.30936
dc.identifier.other PURE: 127488880
dc.identifier.other PURE UUID: 24585762-b556-4423-9cf4-65d971b8cc55
dc.identifier.other RIS: urn:736FD6D56194FAFB8938EF6C98328862
dc.identifier.other WOS: 000494881100001
dc.identifier.uri http://hdl.handle.net/10138/316254
dc.description.abstract Abstract 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. 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 prior to 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 healthcare 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 healthcare utilization. Conclusions: Patients experienced attacks often requiring treatment in a healthcare facility and/or with hemin, as well as chronic symptoms that adversely influence day-to-day functioning. In this patient group, the high disease burden and diminished quality of life highlight the need for novel therapies. This article is protected by copyright. All rights reserved. en
dc.format.extent 13
dc.language.iso eng
dc.relation.ispartof Hepatology
dc.rights unspecified
dc.rights cc_by_nc
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject 3121 General medicine, internal medicine and other clinical medicine
dc.subject Acute intermittent porphyria
dc.subject heme biosynthesis
dc.subject neurovisceral attacks
dc.subject porphobilinogen
dc.subject δ-aminolevulinic acid
dc.subject AUDIT
dc.subject SYMPTOMS
dc.subject UPDATE
dc.title EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks en
dc.type Article
dc.contributor.organization HUS Internal Medicine and Rehabilitation
dc.contributor.organization University Management
dc.contributor.organization Department of Medicine
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1002/hep.30936
dc.relation.issn 0270-9139
dc.rights.accesslevel openAccess
dc.type.version acceptedVersion
dc.type.version publishedVersion

Files in this item

Total number of downloads: Loading...

Files Size Format View
hep.30936.pdf 443.0Kb PDF View/Open
Gouya_et_al_2019_Hepatology.pdf 332.1Kb PDF View/Open

This item appears in the following Collection(s)

Show simple item record