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EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
L. Gouya, P. Ventura, M. Balwani, DM. Bissell, DC. Rees, U. Stölzel, JD. Phillips, R. Kauppinen, JG. Langendonk, RJ. Desnick, JC. Deybach, HL. Bonkovsky, C. Parker, H. Naik, M. Badminton, PE. Stein, E. Minder, J. Windyga, R. Bruha, MD....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, pozorovací studie, Research Support, N.I.H., Extramural, práce podpořená grantem
Grantová podpora
U2C TR002818
NCATS NIH HHS - United States
U54 DK083909
NIDDK NIH HHS - United States
U54 DK110858
NIDDK NIH HHS - United States
PubMed
31512765
DOI
10.1002/hep.30936
Knihovny.cz E-zdroje
- MeSH
- biologické markery moč MeSH
- dospělí MeSH
- jaterní porfyrie farmakoterapie patofyziologie moč MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- porfobilinogensynthasa nedostatek moč MeSH
- prospektivní studie MeSH
- recidiva MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
BACKGROUND 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.
4th Internal Clinic General University Hospital Charles University Prague Czech Republic
Alnylam Pharmaceuticals Cambridge MA
Centre de Référence Maladies Rares Porphyries Colombes France
Clinica Universidad de Navarra Navarra Spain
Fondazione IRCCS Ca Granda University of Milan Milan Italy
Icahn School of Medicine at Mount Sinai New York NY
King's College Hospital King's College London London UK
Klinikum Chemnitz Porphyria Center Chemnitz Germany
Laboratory of Excellence GR Ex Paris France
Norwegian Porphyria Centre Haukeland University Hospital Bergen Norway
St Ivan Rilski U Hospital Sofia Bulgaria
Stadtspital Triemli Zentrallabor Zurich Switzerland
Università degli Studi di Modena e Reggio Emilia Emilia Romagna Italy
University Hospital of Helsinki Helsinki Finland
University Hospital of Wales Cardiff UK
University of California San Francisco CA
University of Paris Paris France
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- $a BACKGROUND 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.
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