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

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EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
Hepatology ( IF 12.9 ) Pub Date : 2019-11-07 , DOI: 10.1002/hep.30936
Laurent Gouya _{1,

2,

3} , Paolo Ventura ₄ , Manisha Balwani ₅ , D Montgomery Bissell ₆ , David C Rees ₇ , Ulrich Stölzel ₈ , John D Phillips ₉ , Raili Kauppinen ₁₀ , Janneke G Langendonk ₁₁ , Robert J Desnick ₅ , Jean-Charles Deybach _{1,

2,

3} , Herbert L Bonkovsky ₁₂ , Charles Parker ₉ , Hetanshi Naik ₅ , Michael Badminton ₁₃ , Penelope E Stein ₇ , Elisabeth Minder ₁₄ , Jerzy Windyga ₁₅ , Radan Bruha ₁₆ , Maria Domenica Cappellini ₁₇ , Eliane Sardh ₁₈ , Pauline Harper ₁₈ , Sverre Sandberg ₁₉ , Aasne K Aarsand ₁₉ , Janice Andersen ₁₉ , Félix Alegre ₂₀ , Aneta Ivanova ₂₁ , Neila Talbi _{1,

2,

3} , Amy Chan ₂₂ , William Querbes ₂₂ , John Ko ₂₂ , Craig Penz ₂₂ , Shangbin Liu ₂₂ , Tim Lin ₂₂ , Amy Simon ₂₂ , Karl E Anderson ₂₃

Affiliation

Centre de Référence Maladies Rares Porphyries, Colombes, France.
University of Paris, Paris, France.
Laboratory of Excellence GR-Ex, Paris, France.
Università degli Studi di Modena e Reggio Emilia, Emilia-Romagna, Italy.
Icahn School of Medicine at Mount Sinai, New York, NY.
University of California, San Francisco, CA.
King's College Hospital, King's College London, London, UK.
Klinikum Chemnitz Porphyria Center, Chemnitz, Germany.
University of Utah, Salt Lake City, UT.
University Hospital of Helsinki, Helsinki, Finland.
Porphyria Center, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands.
Section on Gastroenterology & Hepatology, Wake Forest University/NC Baptist Medical Center, Winston-Salem, NC.
University Hospital of Wales, Cardiff, UK.
Stadtspital Triemli, Zentrallabor, Zurich, Switzerland.
Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland.
4th Internal Clinic, General University Hospital, Charles University, Prague, Czech Republic.
Fondazione IRCCS, Ca Granda, University of Milan, Milan, Italy.
Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Norwegian Porphyria Centre, Haukeland University Hospital, Bergen, Norway.
Clinica Universidad de Navarra, Navarra, Spain.
St. Ivan Rilski U Hospital, Sofia, Bulgaria.
Alnylam Pharmaceuticals, Cambridge, MA.
University of Texas Medical Branch, Galveston, TX.

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.

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