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

Show full item record




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

Title: EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
Author: Gouya, Laurent; Ventura, Paolo; Balwani, Manisha; Bissell, D. Montgomery; Rees, David C.; Stölzel, Ulrich; Phillips, John D.; Kauppinen, Raili; Langendonk, Janneke G.; Desnick, Robert J.; Deybach, Jean-Charles; Bonkovsky, Herbert L.; Parker, Charles; Naik, Hetanshi; Badminton, Michael; Stein, Penelope E.; Minder, Elisabeth; Windyga, Jerzy; Bruha, Radan; Cappellini, Maria Domenica; Sardh, Eliane; Harper, Pauline; Sandberg, Sverre; Aarsand, Aasne K.; Andersen, Janice; Alegre, Félix; Ivanova, Aneta; Talbi, Neila; Chan, Amy; Querbes, William; Ko, John; Penz, Craig; Liu, Shangbin; Lin, Tim; Simon, Amy; Anderson, Karl E.
Contributor organization: HUS Internal Medicine and Rehabilitation
University Management
Department of Medicine
Date: 2020-05
Language: eng
Number of pages: 13
Belongs to series: Hepatology
ISSN: 0270-9139
DOI: https://doi.org/10.1002/hep.30936
URI: http://hdl.handle.net/10138/316254
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.
Subject: 3121 General medicine, internal medicine and other clinical medicine
Acute intermittent porphyria
heme biosynthesis
neurovisceral attacks
δ-aminolevulinic acid
Peer reviewed: Yes
Rights: unspecified
Usage restriction: openAccess
Self-archived version: acceptedVersion

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 full item record