Thinking Porphyria, Working Together

International Congress on
Porphyrins and Porphyrias

4-7 September 2022
Sofia, Bulgaria

Scientific Program

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Scientific Program

  1. Workshop
  2. Patient Day
  3. Sep 4th, 2022
  4. Sep 5th, 2022
  5. Sep 6th, 2022
  6. Sep 7th, 2022
Pre-Congress Workshop / Regional meeting - September 3rd, 2022, Saturday
Da Vinci Hall 2, floor 3
Chair: Sverre Sandberg (Norway) & Jean-Charles Deybach (France)
16:00 16:05  WELCOME
16:05 16:30  Testing for AHP - Sverre Sandberg (Norway)
16:30 16:50  Patient case AIP - history/delayed diagnosis/ - Antonia Topalova (Bulgaria)
16:50 17:20  You asked we answered – discussion
17:20 17:40  Coffee Break
17:40 18:10  Testing for cutaneous porphyrias - Jean- Charles Deybach (France)
18:10 18:30  Patient case PCT - history/delayed diagnosis - Antonia Topalova (Bulgaria)
18:30 19:00  You asked we answered – discussion
Pre-Congress Workshop / Regional meeting - September 4th, 2022, Sunday
10:00 12:00  Networking event
12:40 13:30  Lunch
14:00 15:00  Participation at SESSION 3 - ROLE REVERSAL – ASK THE PATIENT EXPERTS!
Millennium Grand, floor 2
A group of doctors and every interested party will ask a patient panel questions to better understand the porphyria experience.
Desiree Lyon (USA), Liz Gill (UK), Louise McGivern (Bulgaria), Sue Burrell (UK), Katerina Bozhinovska (North Macedonia), Tina Todorova (Bulgaria), Amy Dickey (USA), Antony Fearn (UK) Francesca Granata (Italy), Jasmin Barman (Switzerland)
September 4th, 2022, Sunday
Millennium Grand, floor 2

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Patient Day Sofia, Bulgaria

10:00 10:15

WELCOME
Sue Burrell (GPAC)

“By Patients, For Patients”
Louise McGivern (Bulgaria)

Porphyria Connections Bingo

SESSION 1 - GLOBAL PATIENT ADVOCACY UPDATE
Chair: Kristen Wheeden (USA)

10:15 10:45

Global Patient Advocacy Update

Speaker: Sue Burrell (President, Global Porphyrias Advocacy Coalition, UK)
Goals and objectives, working together, and new patient groups.
10:45 11:30 Patient-Reported Outcome Studies
Acute Hepatic Porphyria - POWER Study
Speaker:  Amy Dickey (USA)
New Developments in Erythropoietic Protoporphyria
Speaker: Jasmin Barman (Switzerland)
11:30 11:45 Break -Stretch and Breathe

SESSION 2 - REAL PATIENT AND CAREGIVER STORIES
Chair: Katerina Bojinovska (North Macedonia)

11:45 12:05

A Short Film 
Porphyria: Real Patient Stories

12:05 12:45

Porphyria: A Family Story
Caregiver Testimonies - Challenges and Triumphs
Danny de Roode (Netherlands), Kika Shabot (Mexico)

12:45 14:00

Lunch
Porphyria Connections Bingo

SESSION 3 - ROLE REVERSAL – ASK THE PATIENT EXPERTS!
Chair: Cornelia Dechant (Austria)
14:00 15:00

A group of doctors and every interested party will ask a patient panel questions to better understand the porphyria experience.
Desiree Lyon (USA), Liz Gill (UK), Louise McGivern (Bulgaria), Sue Burrell (UK), Katerina Bozhinovska (North Macedonia), Tina Todorova (Bulgaria), Amy Dickey (USA), Antony Fearn (UK) Francesca Granata (Italy), Jasmin Barman (Switzerland)

15:00 15:30

Closing

Louise McGivern (Bulgaria)
Key Learnings Discussion – What did you learn today?

ICPP 2022 Congress program September 4th, 2022, Sunday
All congress sessions will be held in Millennium Grand hall, floor 2
17:30 18:00  WELCOME CEREMONY and OPENING REMARKS
SESSION 1
CHAIR: Sverre Sandberg (Norway)
 Evidence-based Guidelines for the porphyrias: An EPNET (and all) reality check
18:00 18:05  Introduction - Sverre Sandberg (Norway)
18:05 18:35  Methodology in establishing evidence-based guidelines - Reem Mustafa (USA)
18:35 19:05  Results of project to develop Guidelines for treatment of the acute hepatic porphyrias - Yonatan Edel (Israel)
19:05 19:30  Open Discussion
19:30 21:30  Welcome Reception
September 5th, 2022, Monday
All congress sessions will be held in Millennium Grand hall, floor 2
SESSION 2: FUNDAMENTALS OF HEME & HEME REGULATION 1
CHAIR: Robert Desnick (USA)
8:45 9:25 Haem biosynthesis: Overview, latest advances and Covid-19 - John Phillips (USA)
Oral presentations selected from abstract submissions
9:25 9:40 A homozygous mutation in PPOX causes adrenal insufficiency along with severe porphyria - Chris Smith (UK)
9:40 9:55 Central nervous system alterations in human and animal models of acute intermittent porphyria - Daniel Jerico Asenjo (Spain)
9:55 10:10 NOD2-variants in AIP - Ilja Kubisch (Germany)
10:10 10:45 Coffee break and poster viewing
SESSION 3: FUNDAMENTALS OF HEME & HEME REGULATION 2
CHAIR: Laurent Gouya (France)
10:45 11:25 Haem tolerance and metabolism (including transport) - Iqbal Hamza (USA)
11:25 12:05 ALAS1 knockout mouse liver haem repletion sans haem biosynthesis: (Im)possible mechanisms? - Makiko Yasuda (USA)
Oral presentations selected from abstract submissions
12:05 12:20 Untargeted metabolomic analysis in AIP reveals a bile acid disorder in the metabolic signature - Thibaud Lefebvre (France)
12:20 12:35 Pathomechanism of hepatocellular carcinoma development in the acute hepatic porphyrias - Jasmin Barman (Switzerland)
12:35 12:50 Prostaglandins contribute to a pro-contractile vascular phenotype in a mouse model of acute intermittent porphyria - Victor M. Pulgar (USA)
12:50 14:00 Lunch break and poster viewing
SESSION 4: ACUTE HEPATIC PORPHYRIAS - NEW INSIGHTS & THERAPIES 1
CHAIR: Bruce Wang (USA) & Petro Petrides (Germany)
Panel input & discussion on siRNA ALAS mRNA inhibition – Givosiran update and use in the ‘real world’
14:00 14:15 Real world experience - Antoine Poli (France)
14:15 14:30 Real world experience - Penelope Stein (UK)
14:30 14:45 Real world experience - Daphne Vassiliou (Sweden)
14:45 15:00 Dysregulation of homocysteine homeostasis in AIP patients on haem/Givosiran treatment - Jordi To-Figueras (Spain)
15:00 15:15 Open and further panel discussion/experiеnce from the floor
15:15 15:45 Other Emerging therapies for AHP (featuring those with evidence of promise and including Enzyme replacement therapy using rhApoA1-PBGD - Antonio Fontanellas (Spain)
Oral presentations selected from abstract submissions
15:45 16:00 Cardiovascular, renal and psychiatric comorbidity in acute hepatic porphyria; A matched cohort study - Mattias Lissing (Sweden)
16:00 16:15 Real-world data of patients with AHP under givosiran treatment in Germany - Ilja Kubisch (Germany)
SESSION 5: EPNET GENERAL MEETING
CHAIR: Sverre Sandberg (Norway)
16:15 19:30 Opening and welcome
Approval of Minutes GA Meeting 2020
Financial information
Membership fees
Report from Working Group Chairs
Transforming Epnet into an International organisation?
Election of Epnet Executive Board 2023-24
Announcing the venue for ICPP 2024
Conclusion and Closure
September 6th, 2022, Tuesday
All congress sessions will be held in Millennium Grand hall, floor 2
SESSION 6: CUTANEOUS PORPHYRIAS - NEW INSIGHTS AND TREATMENTS 1
CHAIR: Jean-Charles Deybach (France)
Panel input and discussion on New protopophyria treatments
8:45 9:00 Review of recent photoprotective and pathophysiological approaches - Janneke Langendonk (Netherlands)
9:00 9:15 Dersimelagon -MC1R agonist - Kirstine Belongie (USA)
9:15 9:30 Bitopertin - limiting glycine uptake in differentiating erythrocytes - Will Savage (USA)
9:30 9:45 Cimetidine for possible ALAS 2 inhibition - Amy Dickey (USA)
9:45 10:00 Open and further panel discussion/experience from the floor
10:00 10:30 The Clinical Management of Porphyria Cutanea Tarda: an update - Robert Sarkany (UK)
10:30 11:00 Coffee break and poster viewing
SESSION 7: CUTANEOUS PORPHYRIAS - NEW INSIGHTS AND TREATMENTS 2
CHAIRS: Maria Cappellini (Italy) & Krassimir Antonov (Bulgaria)
Oral presentations selected from abstract submissions
11:00 11:15 Elevated plasma porphyrins among end stage renal disease patients and cutaneous symptoms- is there still an association? - Yonatan Edel (Israel)
11:15 11:30 Proof of Concept Studies with Bitopertin for the Treatment of Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLPP) - Min Wu (USA)
11:30 11:45 Blue Light Dosimetry for Measuring Light Exposure in Erythropoietic Protoporphyria - Amy Dickey (USA)
11:45 12:00 Cord blood analysis in Erythropoietic Protoporphyria - Yana Pavlova (UK)
12:00 12:15 Unraveling Phenotypes in Brazilian Patients with Cutaneous Porphyrias: The Impact of Next Generation Sequencing with a Targeted Gene Panel - Charles Marques Lourenço (Brazil)
12:15 12:30 ABCG2 variant causes the decreased of Protoporphyrin-IX (PPIX) efflux from erythrocytes - Francesca Granata (Italy)
12:30 14:30 Lunch break and poster viewing
SESSION 8: DIAGNOSTIC APPROACHES – DEVELOPING ACCEPTABLE GUIDELINES
CHAIRS: Karl Anderson (USA) & Mike Badminton (UK)
14:30 15:00

Recommendations for laboratory evaluation of diagnosis and monitoring of the porphyrias
Aasne Aarsand (Norway) on behalf of the EPNET Lab Working Group

15:00 15:30 The utility of gene sequencing in the diagnosis of the porphyrias - Sharon Whatley (UK) on behalf of the EPNET
Lab Working Group
15:30 15:45 Open discussion
Oral presentations selected from abstract submissions
15:45 16:00 Reducing diagnostic delays in AIP using electronic health records, knowledge graphs and machine learning: a multicenter validation study - Vivek Rudrapatna (USA)
16:00 16:15 Evaluation of the visual threshold and urobilinogen interference of the Hoesch test - Siim Iskül (Estonia)
16:15 17:30 Poster viewing
19:00 22:00 FAREWELL EVENING
Known unknowns and unknown unknowns - Paul Wilson (Netherlands) /as part of the Farewell evening/
September 7th, 2022, Wednesday
All congress sessions will be held in Millennium Grand hall, floor 2
SESSION 9: RATIONAL APPROACH(ES) TO DIAGNOSIS AND CARE IN CUTANEOUS AND ACUTE PORPHYRIAS
CHAIRS: Eliane Sardh (Sweden) & Sonya Dragneva (Bulgaria)
Panel input and discussions on Rational approaches to diagnosis and care of the porphyrias
8:45 9:00

Real word questions for porphyrinologists -1
"Is geno/phenotype and variable penetrance still a problem?"
"What of benign and pathogenic mutations?"
"What do we advise patients?"
Mike Badminton (UK)

9:00 9:15 Real word questions for porphyrinologists -2
"The role of prophylactic advice"
"What about screening for hepatocellular carcinoma?"
"Is there a role for liver transplantation?"
"The role of Bone marrow transplantation as a therapy?”
Staffan Wahlin (Sweden)
9:15 9:30 Open and further discussion/experience from the floor
Oral presentations selected from abstract submissions
9:30 9:45 Non-hepatic cancer risk in acute hepatic porphyria; A nationwide matched cohort study in 1,244 individuals - Mattias Lissing (Sweden)
9:45 10:00 Clinical and neurophysiology evaluation of a striking recovery from chronic motor neuropathy: the case of a paediatric patient with acute intermittent - Paolo Ventura (Italy)
10:00 10:45 Coffee break and poster viewing
SESSION 10: DIAGNOSTIC AND CLINICAL CONUNDRUMS
CHAIRS: Sverre Sandberg (Norway) & Aneta Ivanova (Bulgaria)
CONUNDRUMs
Oral presentations selected from abstract submissions
10:45 11:05 Lack of Response to Givosiran in a Case of ALAD Porphyria - Karl Anderson (USA)
11:05 11:25 An intertwined challenge of acute porphyria and COVID - Mark Sonderup (South Africa)
11:25 11:45 Interlace of two rare inherited disease causing muscle atrophy: Acute Intermittent Porphyria and Spinal Muscular Atrophy - İlayda Altun (Türkiye)
11:45 11:50 Poster prizes
11:50 12:00 Congress closing ceremony

ICPP 2022

ICPP 2022

Thinking Porphyria, Working Together

International Congress on
Porphyrins and Porphyrias

4-7 September 2022
Sofia, Bulgaria

ICPP 2022

ICPP 2022

Thinking Porphyria, Working Together

International Congress on
Porphyrins and Porphyrias

4-7 September 2022
Sofia, Bulgaria

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