Scientific Meeting Recap

October 28th-29th 2021 was the first International Scientific Meeting for PIK3CA Related Conditions which was hosted and sponsored by CLOVES Syndrome Community. We hosted this meeting as part of our patient led PIK3CA Related Conditions Research Network development with the Chan Zuckerberg Initiative Rare As One Network.  We welcomed over three hundred attendees to this virtual meeting.

The meeting was a great success and we would first like to thank our Scientific Chairs Dr. Denise Adams of CHOP, Dr. Miikka Vikkula of de Duve Institute and Dr. Jean Zhao of Dana-Farber Cancer Institute.

“I want to congratulate you on such a successful meeting. I very much enjoyed all of the talks and I’m sure it was no small effort to put together. I was impressed not only by the scientific and clinical expertise but the involvement of patients and families. I was so grateful that so many people are willing to share their incredible stories”.  – Clinician 

We would also like to thank the patient advocacy planning committee with members from KT Support Group, Project FAVA, Italian Macrodactyly and PROS Association, LGDA, WonderFIL Smiles, GoPI3Ks Charity, HEVAS and M-CM Network.   With their collaboration we were able to incorporate patient and caregiver feedback, stories, pictures, and videos from affected individuals from around the world. 

The goals of the meeting were: 

  • To bring together the experts in the PIK3CA pathway including clinicians, clinical researchers and basic scientists to allow opportunities to present new information, share data, foster collaboration and encourage networking
  • To stimulate new ideas 
  • To encourage new researchers to enter the field, to collaborate with others in the field and to collaborate with our patient organizations
  • To identify the gaps and unmet needs for our heterogenous patient populations

Day One:

The day started with a Welcome Address from Kristen Davis, Executive Director of the CLOVES Syndrome Community, and a moving video where individuals with PIK3CA Related conditions from around the world showed a snapshot of their life and answered the question “what do you wish your physician knew?” 

Our Keynote lecture was the Importance of Collaboration for the Future of Clinical Research and Treatments from Lewis Cantley, PhD, Meyer Director of the Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine. Participants were able to interact with one another and ask Dr. Cantley questions. 

Our first session of the day was Basic Science. Dr. Guillaume Canaud, MD, PhD provided a comprehensive overview before turning the floor over to Dr. Jean Zhao, PhD to chair the session. The session’s four abstract speakers highlighted the robust and varied work in the field and led to much discussion and Q&A. You can see the speakers and their abstract titles below.

Johanna Laakkonen PhD Missense Mutations in PIK3CA Gene and Intervascular Stromal Cells in Angiomatosis of Soft Tissue

Catherine Cottrell PhD Use of Paired Exome Analysis in Vascular Anomalies Expands the Associated Genetic Spectrum 

Astrid Eijkelenboom PhD Sharing experiences: five years of NGS based somatic PIK3CA variant detection on FFPE tissues in routine diagnostics for vascular malformations

Chiara Borsari PhD Volume Scanning, a Rational Approach to Covalent PI3Ka Inhibitors

After a quick break to view poster presentations by both researchers and patients, attendees returned for Session two – Diagnosis and Natural History. This session began with a patient and caregiver video about Diagnosis. Session chair Denise Adams, MD’s introduction shared the current landscape of diagnosis, how we got to where we are, and how we can continue to move forward. 

The abstract presenters continued this discussion with the below talks on case studies, best practices, and emerging research as well as a Q&A with the audience. 

Pascal Brouillard PhD Non-Hotspot PIK3CA Mutations are More Frequent in CLOVES than in Common or Combined Lymphatic Malformations

Sofia Douzgou Houge MD, PhD A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement 

Kim Keppler-Noreuil MD Characterization and Tumor Risk in PIK3CA-related overgrowth spectrum (PROS)

Nagore Gene PhD ddPCR: a novel technique for molecular diagnosis of vascular anomalies

James Bennett MD, PhD Non-invasive diagnosis of PIK3CA mutations in individuals with lymphatic malformations using cyst-fluid derived cell free DNA

Paloma Triana MD Lower limb overgrowth associated with first toe undergrowth in PIK3CA patients

We ended day one with a fun opportunity to virtually socialize and network with participants and speakers. 

“Your scientific meeting was excellent!   It was polished, moved well, and had a great integration of new science, review-type presentations, and patient clips.” – Parent  

Day Two:

Mandy Sellars, Founder and Chairperson of GoPI3Ks Charity, welcomed everyone to day two of the meeting and introduced our Patient & Caregiver Video titled, Day to Day Life. This video was a great way for the researchers and clinicians in the audience to get a glimpse into the world of those affected by PIK3CA Related Conditions, not just what they see in the doctor’s office or lab. 

Dr. Miikka Vikkula, MD, PhD provided the overview for session 3, Pre-Clinical Research and was joined by co-chair Elisa Boscolo, PhD to facilitate the abstract presentations and Q&A. Below are the two Pre-Clinical session presentations. 

Achira Roy PhD Determining underlying mechanisms and preclinical treatment for PIK3CA-driven hydrocephalus and epilepsy

Matthias Wymann PhD Novel, highly potent PI3Kalfa covalent inhibitors deconvolute class I PI3K isoform signaling

“One of the most truly international meetings I’ve attended” – Researcher

Session 4, Treatments and Innovation, was introduced and chaired by Adrienne Hammill MD, PhD. The session’s Patient & Caregiver Video covered The Impact of Treatment. The number of abstract presentations and the quality of dialogue in the audience chat speaks volumes for the exciting futures of treatment in this field. You can see the variety of topics covered in the titles below. 

An  Van Damme MD, PhD Sirolimus for in utero management of large fetal LM

Abhay Srinivasan MD Central conducting channel anomaly with associated PI3KCA variant presenting with rectovaginal leak

Emmanuel Seront MD, PhD Preliminary results of VASE trial evaluating Sirolimus in Vascular Malformations refractory to Standard Care: subgroup analysis of PIK3CA-mutated patients. 

Satyamaanasa Polubothu PhD Post-zygotic mutations in NRAS and PIK3CA in a case series of generalised lymphatic anomaly (lymphangiomatosis)

Ananya Majumdar PhD Procedural Treatment Outcomes for Fibro-Adipose Vascular Anomaly

Iryna Benzar MD Lateral marginal vein in children with CLOVES and Klippel-Trénaunay syndromes: is early treatment the best choice?

Our meeting concluded with a panel discussion on the Challenges and Opportunities in Research. The panel was moderated by Miikka Vikkula MD, PhD and Denise Adams MD with panelists Sarah Sheppard MD, PhD, Ralitsa Madsen, PhD, Friedrich Kapp and Timothy LeCras, PhD. The panel discussed issues related to funding research, gaps in research, the debate around open research, the need for better models and how patient advocates can contribute to research. While the panel was only an hour, this discussion could have continued for much longer.

We plan to continue to facilitate the conversations started during our Scientific Meeting through a monthly opportunity called Research Roundtable.    These meetings will begin in January of 2022.