Logo of the International Congress on Porphyrins and Porphyrias 2015

International Congress on Porphyrins and Porphyrias

Sept 14th – Sept 16th 2015, Düsseldorf, Germany

Scientific Program for Tuesday September 15th, 2015

Theme: The acute porphyrias

07:00 - 09:00
EXPLORE breakfast session
Participants in the EXPLORE study
 

Session 5

Chair: Pauline Harper (Sweden) and Antonio Fontanellas (Spain)

09:00 - 09:45
Plenary lecture 4: »The acute porphyrias.«
Eliane Sardh, Sweden
 
09:45 - 10:45
Selected oral presentations
 
 
13. Occurrence of malignant tumours in the acute hepatic porphyrias.
Estefania Lang et al., Germany
 
 
14. Primary liver cancer and other malignancies associated with acute hepatic porphyria: A Norwegian population based cohort.
Carl Michael Baravelli et al., Norway
 
 
15. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase underlies development of hepatocellular carcinoma in acute hepatic porphyrias.
Jorge Frank et al., Germany
 
 
16. A second-hit somatic mutation of the heme-biosynthesis genes is sufficient to induce hepatocellular carcinoma in acute porphyrias.
Jasmin Barman-Aksözen et al., Switzerland
 
10:45 - 11:15
Coffee break
 

Session 6

Chair: Hervé Puy (France) and Xiaoye Schneider-Yin (Switzerland)

11:15 - 12:00
Plenary lecture 5: »siRNA-based therapeutic strategies for the porphyrias – where are we?«
Robert J. Desnick, USA
 
12:00 - 13:00
Selected oral presentations
 
 
17. Preclinical development of ALN-AS1, an investigational RNAi therapeutic targeting ALAS1 for the treatment of the acute hepatic porphyrias.
William Querbes et al., USA
 
 
18. Estimates of within-subject biological variation of urinary ALA and PBG in manifest acute intermittent porphyria patients.
Aasne K. Aarsand et al., Norway
 
 
19. EXPLORE: A prospective, multinational natural history study of acute hepatic porphyria patients with multiple recurring attacks.
Amy Simon et al., USA
 
 
20. A randomized, placebo controlled, phase 1 study of ALN-AS1, an Investigational RNAi therapeutic targeting ALAS1.
Elaine Sardh et al., Sweden
 
13:00 - 14:00
Lunch break, poster viewing and congress photo
 
13:45 - 14:00
Congress photo (location to be announced – BE THERE!)
 

Session 7

Chair: Jordi To Figueras (Spain) and Peter Meissner (South Africa)

14:00 - 14:45
Plenary lecture 6: »Vector-based gene therapy for the porphyrias – where are we?«
Gloria González-Aseguinolaza, Spain
 
14:45 - 15:30
Selected oral presentations
 
 
21. Progress and prospects with the use of viral vectors for liver gene therapy in acute intermittent porphyria.
Antonio Fontanellas et al., Spain
 
 
22. High incidence of pathogenic hydroxymethylbilane synthase non-synonymous variants in genomic databasess suggests other predisposing genetic and environmental factors for acute attacks.
Brenden Chen et al., USA
 
 
23. Porphobilinogen synthase deficiency due to intronic mutations.
Rochus Neeleman et al., Netherlands
 
15:30 - 15:45
Coffee break
 

Session 8

Chair: Janneke Langendonk (Netherlands) and Sharon Whatley (Wales)

15:45 - 16:30
Plenary lecture 7: »Towards a unified drug database for the acute porphyrias.«
Atle Brun, Norway
 
16:30 - 17:00
Selected oral presentations
 
 
24. Diagnosis of acute porphyria in four HIV patients whose symptoms were precipitated by antiretroviral drugs.
Joanne Marsden et al., England
 
 
25. Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria.
Irantzu Serano-Mendioroz et al., Spain
 

Gala Dinner

19:00 - 23:00
»Show and Dine«
Location: Roncalli's Apollo Theatre, Düsseldorf