International Scientific Meeting for PIK3CA Related Conditions

Thursday October 28 – Friday October 29, 2021

The International Scientific Meeting for PIK3CA Related Conditions is hosted and sponsored by CLOVES Syndrome Community, in collaboration with Chairs Dr. Denise Adams of CHOP, Dr. Miikka Vikkula of de Duve Institute and Dr. Jean Zhao of Dana-Farber Cancer Institute. We are hosting this meeting as part of our patient led PIK3CA Related Conditions Research Network development with the Rare As One Network. This is a virtual two day meeting.


We invite you to attend the first International Scientific Meeting for PIK3CA Related Conditions, where we will focus on the diverse range of phenotypes of the spectrum that share a PIK3CA mutation.

The goals for this meeting are:

  • 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

The conditions covered in this meeting include:

  • CLAPO Syndrome
  • CLOVES Syndrome
  • DCMO
  • Facial Infiltrating Lipomatosis (FIL)
  • Fibroadipose Vascular Anomaly (FAVA)
  • Generalized Lymphatic Anomaly (GLA)
  • Isolated Lymphatic Malformation
  • Isolated Venous Malformation
  • Klippel – Trenaunay Syndrome (KTS)
  • Hemihyperplasia‐multiple lipomatosis syndrome (HHML)
  • Megalencephaly-capillary malformation syndrome (M-CM)
  • Macrodactyly

Opening Keynote Speaker:

  • Lewis Cantley, PhD
  • Meyer Director, Sandra and Edward Meyer Cancer Center
  • Professor of Cancer Biology, Joan and Stanford I. Weill Department of Medicine

Lewis Cantley, Ph.D., has made significant advances in cancer research stemming from his discovery of the signaling pathway phosphoinositide 3-kinase (PI3K) in 1984. A graduate of West Virginia Wesleyan College (B.S., Chemistry, 1971) and Cornell University (Ph.D., Biophysical Chemistry, 1975), Dr. Cantley has been a professor at Tufts University and Harvard University. He served as director of the Beth Israel Deaconess Cancer Center and is currently the Meyer Director of the Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine. The author of more than 400 papers and 50 book chapters, Dr. Cantley has received several prestigious accolades, including membership in the American Academy of Arts and Sciences, the National Academy of Sciences, the Institute of Medicine of the National Academies, and the European life sciences academy EMBO.

See The Full List of Speakers

  • Dr. Denise Adams, MD
  • Pediatric Hematologist/Oncologist
  • Director, Comprehensive Vascular Anomalies Program (CVAP) at Children’s Hospital of Philadelphia
  • Dr. Guillaume Canaud, MD, PhD
  • Professor in Medicine
  • Head of the Overgrowth clinical unit at Necker Enfants Malades Hospital, Paris, France
  • Dr. Miikka Vikkula, MD, PhD
  • Professor of Human Genetics
  • Co-Director of de Duve Institute
  • Dr. Adrienne M. Hammill, MD, PhD
  • Associate Professor of Pediatrics
  • Research Director of the Hemangioma & Vascular Malformations Center at Cincinnati Children’s Hospital Medical Center

Conference Agenda – All times are in Eastern Standard Time

Thursday, October 28, 2021

  • 10:00a-11:05 EST  Opening Session
    • 10:00 Welcome Address: Kristen Davis, Organizing Chair & Executive Director CLOVES Syndrome Community
    • 10:10    Keynote Patient Journey Video
    • 10:20     Keynote Address: Lewis Cantley, PhD The Importance of Collaboration for the Future of Clinical Research and Treatments

  • 11:05-12:40p     Session 1: Basic Science
    • 11:05    Introduction– Dr. Guillaume Canaud, MD, PhD and Session Chair: Dr. Jean Zhao, PhD
    • 11:50    Johanna Laakkonen PhD Missense Mutations in PIK3CA Gene and Intervascular Stromal Cells in Angiomatosis of Soft Tissue
    • 12:00   Catherine Cottrell PhD Use of Paired Exome Analysis in Vascular Anomalies Expands the Associated Genetic Spectrum 
    • 12:10    Astrid Eijkelenboom PhD Sharing experiences: five years of NGS based somatic PIK3CA variant detection on FFPE tissues in routine diagnostics for vascular malformations
    • 12:20    Chiara Borsari PhD Volume Scanning, a Rational Approach to Covalent PI3Ka Inhibitors
    • 12:30    Session 1: Basic Science Q&A

  • 12:40-1:10     Break

  • 1:10        Patient & Caregiver Video: The Diagnostic Journey

  • 1:20-3:15     Session 2: Diagnosis and Natural History
    • 1:20    Introduction-Session Chair: Denise Adams, MD
    • 2:05    Pascal Brouillard PhD Non-Hotspot PIK3CA Mutations are More Frequent in CLOVES than in Common or Combined Lymphatic Malformations. 
    • 2:15     Sofia Douzgou Houge MD, PhD A standard of care for individuals with PIK3CA-related disorders: an international expert consensus statement 
    • 2:25     Kim Keppler-Noreuil MD Characterization and Tumor Risk in PIK3CA-related overgrowth spectrum (PROS)
    • 2:35     Nagore Gene PhD ddPCR: a novel technique for molecular diagnosis of vascular anomalies
    • 2:45    James Bennett MD, PhD Non-invasive diagnosis of PIK3CA mutations in individuals with lymphatic malformations using cyst-fluid derived cell free DNA
    • 2:55    Paloma Triana MD Lower limb overgrowth associated with first toe undergrowth in PIK3CA patients
    • 3:05    Session 2: Diagnosis and Natural History Q&A
    • 3:15        Networking/Social Event

Friday, October 29, 2021

  • 9:30am EST    Sponsor Symposium: Venthera – VT30 Topical Gel: An investigational treatment for cutaneous venous and lymphatic malformations
  • 10:00        Welcome Address: Mandy Sellars, Founder and Chairperson of GoPI3Ks
  • 10:10        Patient & Caregiver Video: Day to Day Life

  • 10:20-11:35     Session 3:  Pre-clinical Research
    • 10:20    Introduction-Session Chair: Dr. Miikka Vikkula, MD, PhD
    • 11:05    Achira Roy PhD Determining underlying mechanisms and preclinical treatment for PIK3CA-driven hydrocephalus and epilepsy
    • 11:15     Matthias Wymann PhD Novel, highly potent PI3Kalfa covalent inhibitors deconvolute class I PI3K isoform signaling
    • 11:25     Session 3:  Pre-clinical Research Q&A

  • 11:35-12:05p     Break

  • 12:05        Patient & Caregiver Video: The Impact of Treatment 

  • 12:15-2:00     Session 4: Treatments and Innovation 
    • 12:15    Introduction-Session Chair: Adrienne Hammill MD, PhD
    • 1:00    An  Van Damme MD, PhD Sirolimus for in utero management of large fetal LM
    • 1:10     Abhay Srinivasan MD Central conducting channel anomaly with associated PI3KCA variant presenting with rectovaginal leak
    • 1:20     Emmanuel Seront MD, PhD Preliminary results of VASE trial evaluating Sirolimus in Vascular Malformations refractory to Standard Care: subgroup analysis of PIK3CA-mutated patients. 
    • 1:30     Satyamaanasa Polubothu PhD Post-zygotic mutations in NRAS and PIK3CA in a case series of generalised lymphatic anomaly (lymphangiomatosis)
    • 1:40    Ananya Majumdar PhD Procedural Treatment Outcomes for Fibro-Adipose Vascular Anomaly
    • 1:50    Iryna Benzar MD Lateral marginal vein in children with CLOVES and Klippel-Trénaunay syndromes: is early treatment the best choice?
    • 2:00   Session 4: Treatments and Innovation  Q&A
  • 2:10        Break
  • 2:20 Challenges and Opportunities in Research: A Panel Discussion
    • Moderators: Dr. Miikka Vikkula MD, PhD and Dr. Jean Zhao PhD with Dr. Sarah Sheppard MD, PhD, Dr. Ralitsa Madsen, PhD, Dr. Friedrich Kapp and Dr. Timothy Le Cras, PhD
  • 2:55      Closing Remarks

Pending accreditation: An application will be made to the UEMS EACCME® for CME accreditation of this event.

The UEMS-EACCME® has an agreement of mutual recognition of credits with the American Medical Association (AMA) for live educational events and for e-learning materials.

Abstract Submission:

The Conference Organizing Committee invites authors to submit abstracts to be considered for inclusion in the Scientific Program for either oral or poster presentations.  We encourage submissions that cover the entire spectrum of PIK3CA Related Conditions including:  CLOVES, Macrodactyly, CLAPO, DCMO, KTS, FAVA, M-CM, HHML, Isolated Lymphatic and Venous Malformations, GLA and FIL.  

The conference sessions will be organized around the themes of Basic Science, Preclinical Research, Diagnosis/Natural History and Treatment, however other topics of research are encouraged and welcomed for submission. Within each of these themes we will bring together basic scientists and clinicians, in the hope of stimulating and educating both. 

Abstract submissions open May 1, 2021 and are due June 22, 2021 at 11:59pm EST.   All submitters will receive notification of abstract acceptance and presentation type by August 2, 2021.

Embargo Policy

Scientific Meeting Chairs:

  • Dr. Denise Adams
  • Pediatric Hematologist/Oncologist Director, Comprehensive Vascular Anomalies Program (CVAP) at Children’s Hospital of Philadelphia
  • Co-Director, Frontier CVAP Program
  • Alan Cohan Endowed Chair In Pediatrics
  • Professor, University of Pennsylvania

More about Dr. Denise Adams

Dr. Adams is a prominent pediatric hematologist-oncologist. She is the Director of the Comprehensive Vascular Anomalies Program (CVAP), a cutting-edge, multidisciplinary program that seeks breakthrough treatments and cures for children, adolescents and young adults with rare, life-threatening tumors and malformations of the vasculature, which includes the arteries, veins, capillaries, lymphatics and combined lesions.

As a leading expert in the field, Dr. Adams is actively engaged in clinical and translational research on complex vascular anomalies and regularly publishes studies in leading journals on the topic. She has received numerous awards, for her teaching and mentorship and for her research and clinical accomplishments. Hospitals, universities, and conferences around the world have invited her to speak on the topic of vascular anomalies, recognizing her expertise in this area.

  • Dr. Miikka Vikkula
  • Professor of Human Genetics
  • Co-Director of de Duve Institute

More about Dr. Miikka Vikkula

Professor Vikkula obtained his M.D. at the University of Helsinki in 1992 and his Ph.D. in molecular genetics, in 1993. He was a Research Associate at Harvard Medical School 1993- 1997, during which time he became interested in vascular and lymphatic anomalies. With his wife, Professor Laurence Boon, Plastic Surgeon, Co-ordinator of the Vascular Anomaly Center, Brussels, the couple discovered the gene for familial venous malformation in 1996, and since then many others. They settled in Brussels in 1997, where Dr. Vikkula developed his own laboratory. He obtained a “docentship PhD”; in 2000, and was nominated Assistant Professor at the Faculty of Medicine in UCL. He is a member of the Directorate of the de Duve Institute since 2004, and a full professor of Human Genetics since 2013. He has received numerous honors and awards, including the Inbev-Baillet Latour Clinical Prize in 2013, and the first Belgian Generet Award for rare disease research in 2019. He is a Member of the Royal Belgian Academy of Medicine since 2012. Professor Vikkula’s research led to the identification of first somatic mutations as explanation for sporadically occurring vascular anomalies, generation of first ever animal models for vascular malformations, and proof of concept treatment with small molecular inhibitors. Clinical trials are now being conducted with various molecules in various countries. Professor Vikkula is well-known internationally as a major contributor to the understanding of molecular basis of vascular anomalies and lymphedema with more than 160 peer-reviewed publications and more than 50 reviews and chapters in major biomedical textbooks.

  • Jean J. Zhao, Ph.D.
  • Professor of Biological Chemistry and Molecular Pharmacology
  • Dana-Farber Cancer Institute
  • Harvard Medical School

More about Jean J. Zhao, Ph.D.

Jean Zhao is Professor of Biological Chemistry and Molecular Pharmacology at Harvard Medical School and Dana-Farber Cancer Institute (DFCI). Her research centers on understanding signaling pathways in tumor and tumor immune environments. Her laboratory has pioneered a new front for understanding signal transduction by integrating mouse genetics, chemical biology and immunology to facilitate translational cancer research. Prof. Zhao’s productive and insightful work has not only addressed important basic science questions; it has also guided the design of current clinical trials integrating immunotherapy and targeted therapy at multiple cancer centers. Prof. Zhao has been widely recognized for her innovation and excellence in the field. Her honors and awards include the V Scholar Award, the Starr Foundation Award, the Outstanding Investigator Award from NIH/NCI, and the Breakthrough Award from DoD. She serves as a member on multiple scientific boards and committees, including the Executive Committee for Research and Clinical Science, the Committee for Women Faculty at DFCI, the Steering Committee of Breast Cancer at Dana-Farber/Harvard Cancer Center and the Advisory Council of the National Brain Tumor Society.

The planning committee for this meeting includes the following patient advocacy organizations:


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