Agenda

Location: Iles ABC

Posters should be on display from Wednesday morning through Friday;
all posters remain on display for viewing both at the designated time with the authors (see below) and informally (without authors) at coffee breaks and lunch.

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

10:20am – 10:32am
Non-Invasive Detection and Functional Characterization of Pericyte Dysfunction in Hereditary Hemorrhagic Telangiectasia using Super-Resolution Ultrasound-Identification of TGF-Beta as Potential Drug Target

Jérémy Thalgott, MSc

10:32am – 10:44am
Endothelial deletion of Hereditary Hemorrhagic Telangiectasia 2 (HHT2)/activin receptor-like kinase (Alk1) gene initiated arteriovenous malformations (AVM) from capillaries revealed by longitudinal live 2-photon imaging

Rong Wang, PhD

10:44am – 10:56am
ANG2 Blockade Diminishes Proangiogenic Cerebrovascular Defects Associated With Models of Hereditary Hemorrhagic Telangiectasia

Stryder Meadows, PhD

10:56am – 11:08am
Pre-clinical assessment of ANG2-VEGFA bispecific inhibitor on AVM formation in HHT mouse models.

Shreya Bavishi, MBBS

11:08am – 11:20am
Deciphering hepatic and cardiac BMP10 functions using tissue-specific Bmp10-KO mouse models

Léa Vialet, PhD

11:20am – 11:32am
Alk1/Endoglin signaling restricts vein cell size increases in response to hemodynamic cues and limits ribosomal biogenesis

Arndt Siekmann, PhD

11:32am – 11:45am
CDK6 controls endothelial cell proliferation and AVM pathology in HHT

Sima Qutaina, PhD

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

1:40pm—1:52pm
Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: a large French prospective study (PROPLACOTEL)

Vincent Grobost, MD

1:52pm—2:04pm
Poor Adherence to International Guidelines for Intravenous Iron in U.S. Patients with Hereditary Hemorrhagic Telangiectasia

Hanny Al-Samkari, MD

2:04pm—2:16pm
Hereditary hemorrhagic telangiectasia may be the most morbid and clinically significant inherited bleeding disorder of women

Ellen Zhang, MD

2:16pm—2:28pm
A new peptide derived from Endoglin as a strategy to treat epistaxis in HHT patients

Elisa Rossi, PhD

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

3:25pm—3:37pm
The value of transthoracic contrast echocardiography after pulmonary arteriovenous malformation embolization

Josefien Hessels. MD

3:37pm—3:49pm
Evolution of Pediatric Pulmonary AVMs (PAVMs) in HHT

Paul Kirkpatrick, MD

3:49pm—4:01pm
Pulmonary Arteriovenous Malformation Recurrence in Patients with Pulmonary Hypertension

Adam Fish, MD

4:01pm—4:13pm
Reperfusion of pulmonary arteriovenous malformations treated by catheter embolization

Bianca Gulich

4:13pm—4:25pm
Screening of patients diagnosed with HHT (hereditary hemorrhagic telangiectasia) or their first-degree relatives for disease expression in brain, liver and lung by Magnetic Resonance Imaging

Günther Schneider, MD, PhD

4:25pm—4:37pm
Microvascular Plug Embolization of the Distal Feeding Artery versus Coil Embolization of the Nidus and Feeding Artery: Which Technique is More Effective for Pulmonary Arteriovenous Malformations?

Shanmukha Srinivas, MD

4:40pm – 4:42pm
A Novel Mouse Model for Investigating the Influence of Second Hits on AVM Development and Bleeding in Hereditary Hemorrhagic Telangiectasia (HHT)

Adella Guidroz, BS

4:42pm – 4:44pm
Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from Hereditary Hemorrhagic Telangiectasia and Pulmonary Arterial Hypertension donors

Sabine Bailly, PhD

4:44pm – 4:46pm
MEK 1 inhibition and bleeding in hereditary haemorrhagic telangiectasia

Claire Shovlin, PhD, FRCP

4:46pm – 4:48pm
Emerging factors affecting diagnostic delay in HHT: preliminary questionnaire-based results from a cohort of Italian patients

Luigi Rizzi, MD

4:48pm – 4:50pm
Association between systemic inflammation and severity of epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT)

Luis Adrian Viteri-Noel, MD

4:50pm – 4:52pm
Ultrafast doppler ultrasound for non-Invasive assessment of microvascular dysfunction inside the body

Finn Timmermans, MSc

4:52pm – 4:54pm
New insights on 5’UTR variants altering upstream Open Reading Frames in ENG and their impact on Hereditary Hemorrhagic Telangiectasia

Omar Soukarieh, PhD

4:54pm – 4:56pm
Pulmonary ArterioVenous Malformation EMBOlotherapy using SHApe memoRy Polymer (PAVM-EMBO-SHARP): A prospective registry study

Sjors Klompmaker, MD, MS, PhD

4:56pm – 4:58pm
Investigating Opposing Roles of Pro- and Anti-Angiogenic Connexins in Vascular Malformation

Edward Looker, BA

4:58pm – 5:00pm
Contributions of Alk1 signaling loss and hemodynamic force to endothelial cell behaviors that underlie AVM development in acvrl1 mutant zebrafish

Anthony Anzell, PhD

Each oral presentation is 12 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

9:05am—9:20am
Intravenous bevacizumab in HHT: A French Multicenter Real-world data study

Sophie Dupuis-Girod, MD, PhD

9:20am—9:35am
Low-dose Tacrolimus for Epistaxis in Hereditary hemorrhagic Telangiectasia: Phase II Open Label Trial

Marie Faughnan, MD

9:35am—9:50am
Sirolimus for Epistaxis in Hereditary Hemorrhagic Telangiectasia: A Phase II Open-Label Trial

Negar Bagheri, MSc

9:50am—10:05am
Effectiveness and safety of continuous long-term antifibrinolytic therapy in patients with Hereditary Hemorrhagic Telangiectasia

Raj Kasthuri, MBBS

10:05am—10:20am
Trial-in-Progress Update: A Phase II/III randomized, placebo-controlled, double-blind study to evaluate the effects of low-dose pazopanib on hereditary hemorrhagic telangiectasia-related epistaxis and anemia

Jim Gossage, MD

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

11:15am—11:27am
Towards the development of safe analogues of pomalidomide preserving vascular integrity to treat Hereditary Haemorrhagic Telangiectasia

Franck Lebrin, PhD

11:27am—11:39am
Engineered BMP2/BMP7 extracellular vesicles as an anti-angiogenic strategy for Hereditary Hemorrhagic Telangiectasia (HHT)

Humberto De Vitto, MSc, PhD

11:39am—11:51am
RV Remodeling in High Output Heart Failure in HHT Patients with Liver AVMs

Lawrence Young, MD and Katherine Clark, MD, MBA

11:51am—12:03pm
Outcomes of Stereotactic Radiosurgery for Brain AVM in HHT patients: Japanese Multicenter Retrospective Study (JLGK-2302)

Takenori Akiyama, MD

12:03pm—12:15pm
Novel use of haemostatic gel (PuraStat) after laser ablation for HHT-related epistaxis

Joanne Rimmer, MBBS, MA(Hons), FRCS(ORL-HNS), FRACS

12:15pm—12:27pm
Quantitative Hepatic Artery Flow Assessment as a Potential Screening Study for Development of High-Output Heart Failure (HOHF) in Hereditary Hemorrhagic Telangiectasias (HHT) Patients with Hepatic Arteriovenous Malformations (AVMs)

Nirmal Vijayavel, MD

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

8:15am—8:27am
Overcoming barriers to change: the promise of web-mediated counseling for the management and treatment of Hereditary Haemorrhagic Telangiectasia

Giuseppe Marano, PsyD

8:27am—8:39am
Unanticipated Consequences of HHT Guidelines Bubble Filter Recommendation for Patients with PAVM

Kimberly Wei, BS

8:39am—8:51am
Assessment of Knowledge of HHT Care in a Dental Setting

Zachary Tigani, MPH

8:51am—9:03am
Characterizing Self-Reported Epistaxis Measures in Hereditary Hemorrhagic Telangiectasia

Christopher Tarulli, BSc

9:03am—9:15am
Clinical Characteristics and Tolerability of Treatment for Obstructive Sleep Apnea (OSA) in Patients with Hereditary Hemorrhagic Telangiectasia (HHT)

Akash Mathavan, MD

9:15am—9:27am
Family planning, intimacy and contraception in hereditary hemorrhagic telangiectasia: a European survey study

Josefien Hessels, MD

Workshop Session A
Moderators: Murali Chakinala, MD and Nicholas Morrell, ScD

HHT and Pulmonary Hypertension/Pulmonary Arterial Hypertension

Workshop Session B
Moderators: Jamie McDonald, MS, LGC and Sabine Bailly, PhD

What is HHT? Explore the evolving definition of HHT with advancements in genetic testing and diagnosis, variant curation, and implications for clinical care.

Workshop Session C
Moderator: Marianne Clancy, MPA

Funding opportunities at the US NIH and US DoD
Invited Speakers: Andrei Kindzelski, MD, PhD and Mark Vieth

Each oral presentation is 15 minutes followed by 5 minutes of discussion.

All speakers will be requested to adhere to the time limit.

1:00pm—1:20pm
PATH-HHT, A Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial in Hereditary Hemorrhagic Telangiectasia Demonstrates that Pomalidomide Reduces Epistaxis and Improves Quality of Life

Keith McCrae, MD

1:20pm—1:40pm
Novel allosteric AKT inhibitor for the treatment of HHT

Hans-Jurgen Mager, MD, PhD

1:40pm—2:00pm
Oral nintedanib and epistaxis in hereditary hemorrhagic telangiectasia The EPICURE national multicenter randomized double-blind clinical trial

Ruben Hermann, MD, PhD

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

3:25pm—3:37pm
Somatic mutations in hereditary hemorrhagic telangiectasia arteriovenous malformations

Evon Debose-Scarlett, BS

3:37pm—3:49pm
Development of a functional cellular test for the characterization of SMAD4 variants in HHT

Agnes Desroches-Castan, PhD

3:49pm—4:01pm
Mutations causing premature termination codons discriminate clinical variability in three cohorts with HHT haemorrhage

Claire Shovlin, PhD, FRCP

4:01pm—4:13pm
Somatic activating mutation in Phosphoinositide 3-kinase in a plexiform lesion of an Endoglin mutation carrier with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH)

Katharina Schimmel, PhD

4:13pm—4:25pm
Identification and validation of a novel pathogenic variants in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia

Sabine Bailly, PhD

4:25pm—4:37pm
Genetic Modifiers for Disease Severity in Hereditary Hemorrhagic Telangiectasia

Shantel Weinsheimer, PhD

4:37pm—4:49pm
Discovery of Biallelic Loss of Heterozygosity in Brain Arteriovenous Malformation (AVM): Somatic Second Hit Mutations Drive AVM Formation in HHT

Pinar Bayrak-Toydemir, MD, PhD, FACMG

Each oral presentation is 8 minutes followed by 3-4 minutes of discussion.

All speakers will be requested to adhere to the time limit.

10:25am—10:37am
Exploring vascular heterogeneity in HHT2 brain AVM model

Alexandre Dubrac, PhD

10:37am—10:49am
AAV mediated overexpression of Alk1 in brain endothelial cells alleviates the severity of bAVM in Alk1 deficient mice

Hua Su, MD

10:49am—11:01am
Shared and Distinct Circulating microRNome in Hereditary Hemorrhagic Telangiectasia with Brain Arteriovenous Malformations and Familial Cerebral Cavernous Malformations, Sturge-Weber Syndrome, and Cerebral Microbleeds

Romuald Girard, PhD

11:01am—11:13am
Biosynthesis of ALK1 ligands, BMP9 and BMP10

Beth Roman, PhD

11:13am – 11:25am
A new Cleavage site of Membrane Endoglin mediated by thrombin: Implications in Endothelial Dysfunction

Divina El Hamaoui, MSc

11:25am – 11:37pm
The higher specificity of BMP10 towards the ALK1 receptor compared to BMP9 may explain BMP10’s primary role in forming the proper arteriovenous network

Yong Hwan Kim, PhD