EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks

Gouya, L. (Laurent)|||/items/b8fc2d41-4f56-40da-8d0b-dd0844d0e1ba; Ventura, P. (Paolo)|||/items/e0fe5054-6ff9-448c-b6b6-03d7c536c2bb; Balwani, M. (Manisha)|||/items/04f14a47-0b47-4911-b741-3a125a4eafa1; Montgomery-Bissell, D. (D.)|||/items/141a2113-53d5-492a-9f21-cd51cea1faad; Rees, D.C. (David C.)|||/items/b3360a12-116a-4a91-a0d6-b6bc8abbe4b2; Stölzel, U. (Ulrich)|||/items/dbba4077-8d47-4eaa-acd1-2b020e461c57; Phillips, J.D. (John D.)|||/items/aca58a9a-7a09-44e4-b65b-ebb3a4e4e67c; Kauppinen, R. (Raili)|||/items/3e27a332-268a-44ee-8a64-7f963022e390; Langendonk, J.G. (Janneke G.)|||/items/39e7361a-1ce0-47a6-bb38-f0e14caa8536; Desnick, R.J. (Robert J.)|||/items/3d4bb8e5-9742-4b28-9c0d-7cc999d11ea6; Deybach, J.C. (Jean-Charles)|||/items/5d8d3ce5-76ba-4a45-8b9e-2d03c637dd89; Bonkovsky, H.L. (Herbert L.)|||/items/4d672a5e-dce4-454f-8db2-5ec3c001b769; Parker, C. (Charles)|||/items/bba75769-6c72-4f42-808c-387e189cbc9b; Naik, H. (Hetanshi)|||/items/0188edd6-2c15-4c58-b5c5-b042109663a4; Badminton, M. (Michael)|||/items/4b62cc6b-5d48-4efc-bc3b-f9a1b58727ff; Stein, P.E. (Penelope E.)|||/items/aebc8745-2520-494d-a1aa-fd9217b000d3; Minder, E. (Elisabeth)|||/items/1a9151ef-acfa-4a27-9601-a1bb485aaa6f; Windyga, J. (Jerzy)|||/items/5b98cc9a-456a-4737-bcb6-682b17fcbab8; Bruha, R. (Radan)|||/items/888f200a-d7cf-4ef5-b55b-d8e2903751a3; Cappellini, M.D. (Maria Domenica)|||/items/7ea0944d-9ee7-4677-b535-28bbf2a358e8; Sardh, E. (Eliane)|||/items/1f1edc14-450d-4175-9e19-45a1480606fc; Harper, P. (Pauline)|||/items/cb91c053-2bb0-496b-848a-e4fa5b008b9c; Sandberg, S. (Sverre)|||/items/9fd4c120-7354-4fb8-85bc-b329c0d9df68; Aarsand, A.K. (Aasne K.)|||/items/9c49e380-f1c1-46ae-acac-effb24389da8; Andersen, J. (Janice)|||/items/7aa51005-d6d8-4eae-b7f5-a41329caa43e; Alegre, F. (Félix)|||/items/522c5195-a7ad-446d-b207-92163af3caca; Ivanova, A. (Aneta)|||/items/2569a285-c7a3-477f-afca-fbbe154b9aac; Talbi, N. (Neila)|||/items/ecc46921-7c22-4be4-ab51-a8d93ebe5920; Chan, A. (Amy)|||/items/4ca02951-fdec-45ce-93f8-db91e7937ec6; Querbes, W. (William)|||/items/3a8f720d-d0be-4413-9755-310ce2d24b6e; Ko, J. (John)|||/items/47cd13a6-7f61-42e5-9c7c-0b8a1fe19c91; Penz, C. (Craig)|||/items/6e645f2a-315f-4c44-97d1-ebf8488f4fee; Liu, S. (Shanbing)|||/items/c237a213-53dd-4c86-8ac6-21c0bd5100e6; Lin, T. (Tim)|||/items/47034bfe-9c18-4cba-aa7a-0813cbbc537e; Simon, A. (Amy)|||/items/7533c426-eec5-4bda-8a04-c1f8017ecd73; Anderson, K.E. (Karl E.)|||/items/f3ac88e0-544e-4459-a234-d20ac28a80f5

EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks

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, prosp...

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Detalles Bibliográficos
Autores:	Gouya, L. (Laurent)\|\|\|/items/b8fc2d41-4f56-40da-8d0b-dd0844d0e1ba, Ventura, P. (Paolo)\|\|\|/items/e0fe5054-6ff9-448c-b6b6-03d7c536c2bb, Balwani, M. (Manisha)\|\|\|/items/04f14a47-0b47-4911-b741-3a125a4eafa1, Montgomery-Bissell, D. (D.)\|\|\|/items/141a2113-53d5-492a-9f21-cd51cea1faad, Rees, D.C. (David C.)\|\|\|/items/b3360a12-116a-4a91-a0d6-b6bc8abbe4b2, Stölzel, U. (Ulrich)\|\|\|/items/dbba4077-8d47-4eaa-acd1-2b020e461c57, Phillips, J.D. (John D.)\|\|\|/items/aca58a9a-7a09-44e4-b65b-ebb3a4e4e67c, Kauppinen, R. (Raili)\|\|\|/items/3e27a332-268a-44ee-8a64-7f963022e390, Langendonk, J.G. (Janneke G.)\|\|\|/items/39e7361a-1ce0-47a6-bb38-f0e14caa8536, Desnick, R.J. (Robert J.)\|\|\|/items/3d4bb8e5-9742-4b28-9c0d-7cc999d11ea6, Deybach, J.C. (Jean-Charles)\|\|\|/items/5d8d3ce5-76ba-4a45-8b9e-2d03c637dd89, Bonkovsky, H.L. (Herbert L.)\|\|\|/items/4d672a5e-dce4-454f-8db2-5ec3c001b769, Parker, C. (Charles)\|\|\|/items/bba75769-6c72-4f42-808c-387e189cbc9b, Naik, H. (Hetanshi)\|\|\|/items/0188edd6-2c15-4c58-b5c5-b042109663a4, Badminton, M. (Michael)\|\|\|/items/4b62cc6b-5d48-4efc-bc3b-f9a1b58727ff, Stein, P.E. (Penelope E.)\|\|\|/items/aebc8745-2520-494d-a1aa-fd9217b000d3, Minder, E. (Elisabeth)\|\|\|/items/1a9151ef-acfa-4a27-9601-a1bb485aaa6f, Windyga, J. (Jerzy)\|\|\|/items/5b98cc9a-456a-4737-bcb6-682b17fcbab8, Bruha, R. (Radan)\|\|\|/items/888f200a-d7cf-4ef5-b55b-d8e2903751a3, Cappellini, M.D. (Maria Domenica)\|\|\|/items/7ea0944d-9ee7-4677-b535-28bbf2a358e8, Sardh, E. (Eliane)\|\|\|/items/1f1edc14-450d-4175-9e19-45a1480606fc, Harper, P. (Pauline)\|\|\|/items/cb91c053-2bb0-496b-848a-e4fa5b008b9c, Sandberg, S. (Sverre)\|\|\|/items/9fd4c120-7354-4fb8-85bc-b329c0d9df68, Aarsand, A.K. (Aasne K.)\|\|\|/items/9c49e380-f1c1-46ae-acac-effb24389da8, Andersen, J. (Janice)\|\|\|/items/7aa51005-d6d8-4eae-b7f5-a41329caa43e, Alegre, F. (Félix)\|\|\|/items/522c5195-a7ad-446d-b207-92163af3caca, Ivanova, A. (Aneta)\|\|\|/items/2569a285-c7a3-477f-afca-fbbe154b9aac, Talbi, N. (Neila)\|\|\|/items/ecc46921-7c22-4be4-ab51-a8d93ebe5920, Chan, A. (Amy)\|\|\|/items/4ca02951-fdec-45ce-93f8-db91e7937ec6, Querbes, W. (William)\|\|\|/items/3a8f720d-d0be-4413-9755-310ce2d24b6e, Ko, J. (John)\|\|\|/items/47cd13a6-7f61-42e5-9c7c-0b8a1fe19c91, Penz, C. (Craig)\|\|\|/items/6e645f2a-315f-4c44-97d1-ebf8488f4fee, Liu, S. (Shanbing)\|\|\|/items/c237a213-53dd-4c86-8ac6-21c0bd5100e6, Lin, T. (Tim)\|\|\|/items/47034bfe-9c18-4cba-aa7a-0813cbbc537e, Simon, A. (Amy)\|\|\|/items/7533c426-eec5-4bda-8a04-c1f8017ecd73, Anderson, K.E. (Karl E.)\|\|\|/items/f3ac88e0-544e-4459-a234-d20ac28a80f5
Tipo de recurso:	artículo
Fecha de publicación:	2020
País:	España
Institución:	Universidad de Navarra
Repositorio:	Dadun. Depósito Académico Digital de la Universidad de Navarra
Idioma:	inglés
OAI Identifier:	oai:dadun.unav.edu:10171/65883
Acceso en línea:	https://hdl.handle.net/10171/65883
Access Level:	acceso abierto
Palabra clave:	Acute hepatic porphyria Genetic diseases Mutations in genes Heme biosynthesis Hepatología

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oai_identifier_str	oai:dadun.unav.edu:10171/65883
network_acronym_str	ES
network_name_str	España
repository_id_str
dc.title.none.fl_str_mv	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
title	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
spellingShingle	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks Gouya, L. (Laurent)\|\|\|/items/b8fc2d41-4f56-40da-8d0b-dd0844d0e1ba Acute hepatic porphyria Genetic diseases Mutations in genes Heme biosynthesis Hepatología
title_short	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
title_full	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
title_fullStr	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
title_full_unstemmed	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
title_sort	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks
dc.creator.none.fl_str_mv	Gouya, L. (Laurent)\|\|\|/items/b8fc2d41-4f56-40da-8d0b-dd0844d0e1ba Ventura, P. (Paolo)\|\|\|/items/e0fe5054-6ff9-448c-b6b6-03d7c536c2bb Balwani, M. (Manisha)\|\|\|/items/04f14a47-0b47-4911-b741-3a125a4eafa1 Montgomery-Bissell, D. (D.)\|\|\|/items/141a2113-53d5-492a-9f21-cd51cea1faad Rees, D.C. (David C.)\|\|\|/items/b3360a12-116a-4a91-a0d6-b6bc8abbe4b2 Stölzel, U. (Ulrich)\|\|\|/items/dbba4077-8d47-4eaa-acd1-2b020e461c57 Phillips, J.D. (John D.)\|\|\|/items/aca58a9a-7a09-44e4-b65b-ebb3a4e4e67c Kauppinen, R. (Raili)\|\|\|/items/3e27a332-268a-44ee-8a64-7f963022e390 Langendonk, J.G. (Janneke G.)\|\|\|/items/39e7361a-1ce0-47a6-bb38-f0e14caa8536 Desnick, R.J. (Robert J.)\|\|\|/items/3d4bb8e5-9742-4b28-9c0d-7cc999d11ea6 Deybach, J.C. (Jean-Charles)\|\|\|/items/5d8d3ce5-76ba-4a45-8b9e-2d03c637dd89 Bonkovsky, H.L. (Herbert L.)\|\|\|/items/4d672a5e-dce4-454f-8db2-5ec3c001b769 Parker, C. (Charles)\|\|\|/items/bba75769-6c72-4f42-808c-387e189cbc9b Naik, H. (Hetanshi)\|\|\|/items/0188edd6-2c15-4c58-b5c5-b042109663a4 Badminton, M. (Michael)\|\|\|/items/4b62cc6b-5d48-4efc-bc3b-f9a1b58727ff Stein, P.E. (Penelope E.)\|\|\|/items/aebc8745-2520-494d-a1aa-fd9217b000d3 Minder, E. (Elisabeth)\|\|\|/items/1a9151ef-acfa-4a27-9601-a1bb485aaa6f Windyga, J. (Jerzy)\|\|\|/items/5b98cc9a-456a-4737-bcb6-682b17fcbab8 Bruha, R. (Radan)\|\|\|/items/888f200a-d7cf-4ef5-b55b-d8e2903751a3 Cappellini, M.D. (Maria Domenica)\|\|\|/items/7ea0944d-9ee7-4677-b535-28bbf2a358e8 Sardh, E. (Eliane)\|\|\|/items/1f1edc14-450d-4175-9e19-45a1480606fc Harper, P. (Pauline)\|\|\|/items/cb91c053-2bb0-496b-848a-e4fa5b008b9c Sandberg, S. (Sverre)\|\|\|/items/9fd4c120-7354-4fb8-85bc-b329c0d9df68 Aarsand, A.K. (Aasne K.)\|\|\|/items/9c49e380-f1c1-46ae-acac-effb24389da8 Andersen, J. (Janice)\|\|\|/items/7aa51005-d6d8-4eae-b7f5-a41329caa43e Alegre, F. (Félix)\|\|\|/items/522c5195-a7ad-446d-b207-92163af3caca Ivanova, A. (Aneta)\|\|\|/items/2569a285-c7a3-477f-afca-fbbe154b9aac Talbi, N. (Neila)\|\|\|/items/ecc46921-7c22-4be4-ab51-a8d93ebe5920 Chan, A. (Amy)\|\|\|/items/4ca02951-fdec-45ce-93f8-db91e7937ec6 Querbes, W. (William)\|\|\|/items/3a8f720d-d0be-4413-9755-310ce2d24b6e Ko, J. (John)\|\|\|/items/47cd13a6-7f61-42e5-9c7c-0b8a1fe19c91 Penz, C. (Craig)\|\|\|/items/6e645f2a-315f-4c44-97d1-ebf8488f4fee Liu, S. (Shanbing)\|\|\|/items/c237a213-53dd-4c86-8ac6-21c0bd5100e6 Lin, T. (Tim)\|\|\|/items/47034bfe-9c18-4cba-aa7a-0813cbbc537e Simon, A. (Amy)\|\|\|/items/7533c426-eec5-4bda-8a04-c1f8017ecd73 Anderson, K.E. (Karl E.)\|\|\|/items/f3ac88e0-544e-4459-a234-d20ac28a80f5
author	Gouya, L. (Laurent)\|\|\|/items/b8fc2d41-4f56-40da-8d0b-dd0844d0e1ba
author_facet	Gouya, L. (Laurent)\|\|\|/items/b8fc2d41-4f56-40da-8d0b-dd0844d0e1ba Ventura, P. (Paolo)\|\|\|/items/e0fe5054-6ff9-448c-b6b6-03d7c536c2bb Balwani, M. (Manisha)\|\|\|/items/04f14a47-0b47-4911-b741-3a125a4eafa1 Montgomery-Bissell, D. (D.)\|\|\|/items/141a2113-53d5-492a-9f21-cd51cea1faad Rees, D.C. (David C.)\|\|\|/items/b3360a12-116a-4a91-a0d6-b6bc8abbe4b2 Stölzel, U. (Ulrich)\|\|\|/items/dbba4077-8d47-4eaa-acd1-2b020e461c57 Phillips, J.D. (John D.)\|\|\|/items/aca58a9a-7a09-44e4-b65b-ebb3a4e4e67c Kauppinen, R. (Raili)\|\|\|/items/3e27a332-268a-44ee-8a64-7f963022e390 Langendonk, J.G. (Janneke G.)\|\|\|/items/39e7361a-1ce0-47a6-bb38-f0e14caa8536 Desnick, R.J. (Robert J.)\|\|\|/items/3d4bb8e5-9742-4b28-9c0d-7cc999d11ea6 Deybach, J.C. (Jean-Charles)\|\|\|/items/5d8d3ce5-76ba-4a45-8b9e-2d03c637dd89 Bonkovsky, H.L. (Herbert L.)\|\|\|/items/4d672a5e-dce4-454f-8db2-5ec3c001b769 Parker, C. (Charles)\|\|\|/items/bba75769-6c72-4f42-808c-387e189cbc9b Naik, H. (Hetanshi)\|\|\|/items/0188edd6-2c15-4c58-b5c5-b042109663a4 Badminton, M. (Michael)\|\|\|/items/4b62cc6b-5d48-4efc-bc3b-f9a1b58727ff Stein, P.E. (Penelope E.)\|\|\|/items/aebc8745-2520-494d-a1aa-fd9217b000d3 Minder, E. (Elisabeth)\|\|\|/items/1a9151ef-acfa-4a27-9601-a1bb485aaa6f Windyga, J. (Jerzy)\|\|\|/items/5b98cc9a-456a-4737-bcb6-682b17fcbab8 Bruha, R. (Radan)\|\|\|/items/888f200a-d7cf-4ef5-b55b-d8e2903751a3 Cappellini, M.D. (Maria Domenica)\|\|\|/items/7ea0944d-9ee7-4677-b535-28bbf2a358e8 Sardh, E. (Eliane)\|\|\|/items/1f1edc14-450d-4175-9e19-45a1480606fc Harper, P. (Pauline)\|\|\|/items/cb91c053-2bb0-496b-848a-e4fa5b008b9c Sandberg, S. (Sverre)\|\|\|/items/9fd4c120-7354-4fb8-85bc-b329c0d9df68 Aarsand, A.K. (Aasne K.)\|\|\|/items/9c49e380-f1c1-46ae-acac-effb24389da8 Andersen, J. (Janice)\|\|\|/items/7aa51005-d6d8-4eae-b7f5-a41329caa43e Alegre, F. (Félix)\|\|\|/items/522c5195-a7ad-446d-b207-92163af3caca Ivanova, A. (Aneta)\|\|\|/items/2569a285-c7a3-477f-afca-fbbe154b9aac Talbi, N. (Neila)\|\|\|/items/ecc46921-7c22-4be4-ab51-a8d93ebe5920 Chan, A. (Amy)\|\|\|/items/4ca02951-fdec-45ce-93f8-db91e7937ec6 Querbes, W. (William)\|\|\|/items/3a8f720d-d0be-4413-9755-310ce2d24b6e Ko, J. (John)\|\|\|/items/47cd13a6-7f61-42e5-9c7c-0b8a1fe19c91 Penz, C. (Craig)\|\|\|/items/6e645f2a-315f-4c44-97d1-ebf8488f4fee Liu, S. (Shanbing)\|\|\|/items/c237a213-53dd-4c86-8ac6-21c0bd5100e6 Lin, T. (Tim)\|\|\|/items/47034bfe-9c18-4cba-aa7a-0813cbbc537e Simon, A. (Amy)\|\|\|/items/7533c426-eec5-4bda-8a04-c1f8017ecd73 Anderson, K.E. (Karl E.)\|\|\|/items/f3ac88e0-544e-4459-a234-d20ac28a80f5
author_role	author
author2	Ventura, P. (Paolo)\|\|\|/items/e0fe5054-6ff9-448c-b6b6-03d7c536c2bb Balwani, M. (Manisha)\|\|\|/items/04f14a47-0b47-4911-b741-3a125a4eafa1 Montgomery-Bissell, D. (D.)\|\|\|/items/141a2113-53d5-492a-9f21-cd51cea1faad Rees, D.C. (David C.)\|\|\|/items/b3360a12-116a-4a91-a0d6-b6bc8abbe4b2 Stölzel, U. (Ulrich)\|\|\|/items/dbba4077-8d47-4eaa-acd1-2b020e461c57 Phillips, J.D. (John D.)\|\|\|/items/aca58a9a-7a09-44e4-b65b-ebb3a4e4e67c Kauppinen, R. (Raili)\|\|\|/items/3e27a332-268a-44ee-8a64-7f963022e390 Langendonk, J.G. (Janneke G.)\|\|\|/items/39e7361a-1ce0-47a6-bb38-f0e14caa8536 Desnick, R.J. (Robert J.)\|\|\|/items/3d4bb8e5-9742-4b28-9c0d-7cc999d11ea6 Deybach, J.C. (Jean-Charles)\|\|\|/items/5d8d3ce5-76ba-4a45-8b9e-2d03c637dd89 Bonkovsky, H.L. (Herbert L.)\|\|\|/items/4d672a5e-dce4-454f-8db2-5ec3c001b769 Parker, C. (Charles)\|\|\|/items/bba75769-6c72-4f42-808c-387e189cbc9b Naik, H. (Hetanshi)\|\|\|/items/0188edd6-2c15-4c58-b5c5-b042109663a4 Badminton, M. (Michael)\|\|\|/items/4b62cc6b-5d48-4efc-bc3b-f9a1b58727ff Stein, P.E. (Penelope E.)\|\|\|/items/aebc8745-2520-494d-a1aa-fd9217b000d3 Minder, E. (Elisabeth)\|\|\|/items/1a9151ef-acfa-4a27-9601-a1bb485aaa6f Windyga, J. (Jerzy)\|\|\|/items/5b98cc9a-456a-4737-bcb6-682b17fcbab8 Bruha, R. (Radan)\|\|\|/items/888f200a-d7cf-4ef5-b55b-d8e2903751a3 Cappellini, M.D. (Maria Domenica)\|\|\|/items/7ea0944d-9ee7-4677-b535-28bbf2a358e8 Sardh, E. (Eliane)\|\|\|/items/1f1edc14-450d-4175-9e19-45a1480606fc Harper, P. (Pauline)\|\|\|/items/cb91c053-2bb0-496b-848a-e4fa5b008b9c Sandberg, S. (Sverre)\|\|\|/items/9fd4c120-7354-4fb8-85bc-b329c0d9df68 Aarsand, A.K. (Aasne K.)\|\|\|/items/9c49e380-f1c1-46ae-acac-effb24389da8 Andersen, J. (Janice)\|\|\|/items/7aa51005-d6d8-4eae-b7f5-a41329caa43e Alegre, F. (Félix)\|\|\|/items/522c5195-a7ad-446d-b207-92163af3caca Ivanova, A. (Aneta)\|\|\|/items/2569a285-c7a3-477f-afca-fbbe154b9aac Talbi, N. (Neila)\|\|\|/items/ecc46921-7c22-4be4-ab51-a8d93ebe5920 Chan, A. (Amy)\|\|\|/items/4ca02951-fdec-45ce-93f8-db91e7937ec6 Querbes, W. (William)\|\|\|/items/3a8f720d-d0be-4413-9755-310ce2d24b6e Ko, J. (John)\|\|\|/items/47cd13a6-7f61-42e5-9c7c-0b8a1fe19c91 Penz, C. (Craig)\|\|\|/items/6e645f2a-315f-4c44-97d1-ebf8488f4fee Liu, S. (Shanbing)\|\|\|/items/c237a213-53dd-4c86-8ac6-21c0bd5100e6 Lin, T. (Tim)\|\|\|/items/47034bfe-9c18-4cba-aa7a-0813cbbc537e Simon, A. (Amy)\|\|\|/items/7533c426-eec5-4bda-8a04-c1f8017ecd73 Anderson, K.E. (Karl E.)\|\|\|/items/f3ac88e0-544e-4459-a234-d20ac28a80f5
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.contributor.none.fl_str_mv	Dadun. Depósito Académico Digital Universidad de Navarra
dc.subject.none.fl_str_mv	Acute hepatic porphyria Genetic diseases Mutations in genes Heme biosynthesis Hepatología
topic	Acute hepatic porphyria Genetic diseases Mutations in genes Heme biosynthesis Hepatología
description	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. (Hepatology 2020;71:1546-1558).
publishDate	2020
dc.date.none.fl_str_mv	2020 2020-01-01 2020 2020-01-01 2023 2023-04-05
dc.type.none.fl_str_mv	journal article http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://hdl.handle.net/10171/65883
url	https://hdl.handle.net/10171/65883
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	Elsevier
publisher.none.fl_str_mv	Elsevier
dc.source.none.fl_str_mv	reponame:Dadun. Depósito Académico Digital de la Universidad de Navarra instname:Universidad de Navarra
instname_str	Universidad de Navarra
reponame_str	Dadun. Depósito Académico Digital de la Universidad de Navarra
collection	Dadun. Depósito Académico Digital de la Universidad de Navarra
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling	EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacksGouya, L. (Laurent)\|\|\|/items/b8fc2d41-4f56-40da-8d0b-dd0844d0e1baVentura, P. (Paolo)\|\|\|/items/e0fe5054-6ff9-448c-b6b6-03d7c536c2bbBalwani, M. (Manisha)\|\|\|/items/04f14a47-0b47-4911-b741-3a125a4eafa1Montgomery-Bissell, D. (D.)\|\|\|/items/141a2113-53d5-492a-9f21-cd51cea1faadRees, D.C. (David C.)\|\|\|/items/b3360a12-116a-4a91-a0d6-b6bc8abbe4b2Stölzel, U. (Ulrich)\|\|\|/items/dbba4077-8d47-4eaa-acd1-2b020e461c57Phillips, J.D. (John D.)\|\|\|/items/aca58a9a-7a09-44e4-b65b-ebb3a4e4e67cKauppinen, R. (Raili)\|\|\|/items/3e27a332-268a-44ee-8a64-7f963022e390Langendonk, J.G. (Janneke G.)\|\|\|/items/39e7361a-1ce0-47a6-bb38-f0e14caa8536Desnick, R.J. (Robert J.)\|\|\|/items/3d4bb8e5-9742-4b28-9c0d-7cc999d11ea6Deybach, J.C. (Jean-Charles)\|\|\|/items/5d8d3ce5-76ba-4a45-8b9e-2d03c637dd89Bonkovsky, H.L. (Herbert L.)\|\|\|/items/4d672a5e-dce4-454f-8db2-5ec3c001b769Parker, C. (Charles)\|\|\|/items/bba75769-6c72-4f42-808c-387e189cbc9bNaik, H. (Hetanshi)\|\|\|/items/0188edd6-2c15-4c58-b5c5-b042109663a4Badminton, M. (Michael)\|\|\|/items/4b62cc6b-5d48-4efc-bc3b-f9a1b58727ffStein, P.E. (Penelope E.)\|\|\|/items/aebc8745-2520-494d-a1aa-fd9217b000d3Minder, E. (Elisabeth)\|\|\|/items/1a9151ef-acfa-4a27-9601-a1bb485aaa6fWindyga, J. (Jerzy)\|\|\|/items/5b98cc9a-456a-4737-bcb6-682b17fcbab8Bruha, R. (Radan)\|\|\|/items/888f200a-d7cf-4ef5-b55b-d8e2903751a3Cappellini, M.D. (Maria Domenica)\|\|\|/items/7ea0944d-9ee7-4677-b535-28bbf2a358e8Sardh, E. (Eliane)\|\|\|/items/1f1edc14-450d-4175-9e19-45a1480606fcHarper, P. (Pauline)\|\|\|/items/cb91c053-2bb0-496b-848a-e4fa5b008b9cSandberg, S. (Sverre)\|\|\|/items/9fd4c120-7354-4fb8-85bc-b329c0d9df68Aarsand, A.K. (Aasne K.)\|\|\|/items/9c49e380-f1c1-46ae-acac-effb24389da8Andersen, J. (Janice)\|\|\|/items/7aa51005-d6d8-4eae-b7f5-a41329caa43eAlegre, F. (Félix)\|\|\|/items/522c5195-a7ad-446d-b207-92163af3cacaIvanova, A. (Aneta)\|\|\|/items/2569a285-c7a3-477f-afca-fbbe154b9aacTalbi, N. (Neila)\|\|\|/items/ecc46921-7c22-4be4-ab51-a8d93ebe5920Chan, A. (Amy)\|\|\|/items/4ca02951-fdec-45ce-93f8-db91e7937ec6Querbes, W. (William)\|\|\|/items/3a8f720d-d0be-4413-9755-310ce2d24b6eKo, J. (John)\|\|\|/items/47cd13a6-7f61-42e5-9c7c-0b8a1fe19c91Penz, C. (Craig)\|\|\|/items/6e645f2a-315f-4c44-97d1-ebf8488f4feeLiu, S. (Shanbing)\|\|\|/items/c237a213-53dd-4c86-8ac6-21c0bd5100e6Lin, T. (Tim)\|\|\|/items/47034bfe-9c18-4cba-aa7a-0813cbbc537eSimon, A. (Amy)\|\|\|/items/7533c426-eec5-4bda-8a04-c1f8017ecd73Anderson, K.E. (Karl E.)\|\|\|/items/f3ac88e0-544e-4459-a234-d20ac28a80f5Acute hepatic porphyriaGenetic diseasesMutations in genesHeme biosynthesisHepatologíaBACKGROUND 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).ElsevierDadun. Depósito Académico Digital Universidad de Navarra20232023-04-0520202020-01-0120202020-01-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10171/65883reponame:Dadun. Depósito Académico Digital de la Universidad de Navarrainstname:Universidad de NavarraInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:dadun.unav.edu:10171/658832026-06-21T12:47:57Z
score	15.301629

EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria with recurrent attacks

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