Wednesday, 26 September
14.00–14.30 | Opening Session | |
14.00–14.15 | Welcome Address | |
14.15–14.30 | Goals of the Meeting | |
14.30–17.00 | Session I: Collagen biosynthesis and EDS Chairs: Alain Colige and Fransiska Malfait | |
14.30-14.35 | Introduction | |
14.35–15.05 | Hans Peter Bächinger Mutation-specific pharmacological chaperones for the treatment of Ehlers-Danlos Syndrome and Osteogenesis Imperfecta? | (I.1) |
15.05–15.15 | Antti Salo Collagen Prolyl 4-hydroxylases: human disease, mouse models and substrate specificity of isoforms | (O.1) |
15.15–15.40 | Alain Colige Dermatosparactic and arthrochalasic types of EDS: why are their phenotypes so different? | (I.2) |
15.40–15.50 | Sandy Ayoub Clinical features, molecular results and management of 11 individuals with arthrochalasia EDS, including follow-up data on 6 adult patients | (O.2) |
15.50–16.00 | Silvia Morlino A wide spectrum of phenotypes with predominant involvement of the soft connective tissues and pathogenic heterozygous variants in COL1A1/COL1A2 prompts to reconsider the osteogenesis imperfecta/Ehlers-Danlos overlap syndrome | (O.3) |
16.00–16:10 | Carey Ronspies Severe connective tissue disease and very low bone mineral density without fractures, expanding the phenotype of COL1A2 disorders | (O.4) |
16.10–16.20 | Andy Willaert Complete loss of α2(I) collagen in zebrafish leads to connective tissue abnormalities, reminiscent of the human cardiac-valvular type of EDS | (O.5) |
16.20–16.30 | General Discussion | |
16.30–17.00 | Refreshment break | |
17.00–17.45 | Key Note Speaker: Karl Kadler Circadian Clock Regulation of the Secretory Pathway: new insights into the Ehlers-Danlos syndrome. | (I.3) |
18.00–19.30 | Welcome Reception | |
Thursday, 27 September
08.30–10.30 | Session II: Classical and classical-like EDS Chairs: Clair Francomano and Beat Steinmann | |
8.30–8.35 | Introduction | |
8.35–9.05 | Dan Greenspan Three decades of research on type V collagen: what have we learned? | (I.4) |
9.05–9.15 | Neeti Ghali Arterial complications in classical Ehlers-Danlos syndrome. | (O.6) |
9.15–9.25 | Julie Richer Novel recurrent COL5A1 mutation presenting with diffuse arteriopathy and arterial dissections. | (O.7) |
9.25–9.35 | Purificación Marin Reina Diagnosis of familial Ehlers-Danlos Syndrome, classic type after a cerebral hemorrhage and misdiagnosis of child abuse. | (O.8) |
9.35–9.45 | Neeti Ghali A clinical description of 19 identified individuals with classical-like EDS with evidence of serious gastro-intestinal complications. | (O.9) |
9.45–9.55 | Ulrich Valcourt Tenascin-X regulates TGF-ß signaling in vivo: functional consequences of classical-like EDS. | (O.10) |
10.00–10.30 | Coffee Break | |
10.30–12.00 | Session III: Pain and EDS Chairs: Anne-Marie Malfait and Helen Cohen | |
10.30–11.00 | Anne-Marie Malfait Studying chronic pain in murine models. | (I.5) |
11.00–11.10 | Delfien Syx Pain-related phenotypes in a murine model for classical Ehlers-Danlos syndrome. | (O.11) |
11.10–11.20 | Lies Rombaut Pain sensitivity, type of pain, and pain distribution in hypermobile Ehlers-Danlos Syndrome: a five year follow-up study. | (O.12) |
11.20–11.30 | Jane Schubart Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndromes: a retrospective study. | (O.13) |
11.30–11.40 | Mehmed Novo Multimodal rehabilitation of patients with Ehlers-Danlos syndrome/Hypermobility syndrome and chronic pain. | (O.14) |
11.40–12.00 | Frank Plasschaert Orthopedic management in EDS | (I.6) |
12.00–14:30 | Lunch — Boat Tour — Poster Session | |
14.30–18.00 | Session IV: Hypermobile EDS and Hypermobility Spectrum Disorders Chairs: Alan Hakim and Marco Castori | |
14.30–14.50 | Alan Hakim and Marco Castori Introduction and feedback from the hEDS criteria. | (I.7) |
14.50–15.00 | Laura McGillis Experience utilizing the 2017 criteria for diagnosis of Ehlers-Danlos syndrome: a Canadian perspective. | (O.15) |
15.00–15.10 | Casey Rosen Application of the 2017 hypermobile EDS diagnostic criteria in a paediatric population | (O.16) |
15.10–15.20 | Rodney Grahame Should comorbidities be included in the hEDS criteria? | (O.17) |
15.20–15.35 | Lies Rombaut and Inge De Wandele The 2017 diagnostic criteria for hEDS: the Ghent data and experience, and a suggestion for refining the new diagnostic criteria for hEDS | (O.18) |
15.35–15.45 | General discussion | |
15.45–16.00 | Refreshment Break | |
16.00–16.25 | Joel Hirschhorn Identifying genetic defects in hEDS and HSD. | (I.8) |
16.25–16.35 | Christina Laukaitis Candidate genes for hEDS: initial results of the hEDS gene study. | (O.19) |
16.35–17.00 | John Oakley EDS and the autonomic nervous system. | (I.9) |
17.00–17.10 | Julie Huynh Patient-reported symptoms do not differ between people who do and do not meet hEDS criteria. | (O.20) |
17.10–17.20 | Francis Smith Thorough MRI examination of the cervical spine improving our understanding and management of patients with hEDS. | (O.21) |
17.20–17.30 | Birgit Juul-Kristensen Generalized joint hypermobility and shoulder hypermobility — epidemiology and physical performance. | (O.22) |
17.30–17.40 | Mark Scheper Biomechanics of gait and musculoskeletal complaints in children diagnosed with hypermobility syndrome and Ehlers-Danlos Syndrome hypermobility type: an explorative study. | (O.23) |
17.40–17.50 | Najla Alsiri The impact of Hypermobility Spectrum Disorders on musculoskeletal tissue stiffness: An exploration using strain elastography. | (O.24) |
17.50–18.00 | Valentien Spanhove The influence of external loading exercise circumstances on glenohumeral translations in hEDS/HSD patients with multidirectional shoulder instability. | (O.25) |
18.00–20.00 | Poster Session | |
Friday, 28 September
8.30–12.00 | Session V: Vascular EDS Chairs: Xavier Jeunemaitre and Peter Byers | |
8.30–8.35 | Introduction | |
8.35–9.05 | Michael Frank Morbidity and mortality in vascular Ehlers-Danlos Syndrome: a long-term cohort study in a single tertiary referral centre. | (O.26) |
8.50–9.05 | Glenda Sobey Management of vascular EDS – experience in a dedicated multidisciplinary centre. | (O.27) |
9.05–9.20 | Diana Johnson Vascular EDS in childhood, experience of the UK EDS National Diagnostic Service. | (O.28) |
9.20–9.35 | Salma Adham Natural history of bowel rupture in vascular EDS: a 17-year retrospective study. | (O.29) |
9.35–9.50 | Samia Boussouar Prevalence and patterns of lung abnormalities detected by chest CT in patients with vascular EDS. | (O.30) |
9.50–10:20 | Coffee Break | |
10.20–10.35 | Neeti Ghali Atypical COL3A1 variants cause a consistent phenotype of tissue fragility and skin hyperextensibility. | (O.31) |
10.35–10.50 | Cody Hoop Understanding the impact of vascular EDS mutations on collagen III structure, dynamics and function. | (O.32) |
10.50–11.05 | Tom Van Agtmael ER stress as a mechanism for collagen vascular disorders. | (O.33) |
11.05–11.20 | Jean-Michaël Mazzella Transmission of genetic information to relatives in vascular Ehlers-Danlos Syndrome. | (O.34) |
11.20–11.50 | Xavier Jeunemaitre and Fransiska Malfait Mouse models for vascular EDS and preclinical studies. | — |
11.50–12.00 | Janine Meienberg Candidate drug testing in a murine model of vascular EDS using biomechanical integrity as novel read-out. | (O.35) |
12.00–13.00 | Lunch Break | |
13.00–14.30 | Session VI: Rare EDS types Part I Chairs: Johannes Zschocke and Cecilia Giunta | |
13.00–13.05 | Introduction | |
13.05–13.30 | Yoshihiru Ishikawa Understanding the effect of a novel missense mutation Met48Lys in FKBP22 on its structure and functions. | (I.10) |
13.30–14.00 | Roy Morello Sc65-null and P3h3-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. | (I.11) |
14.00 –14.10 | Angela Brady A diagnosis of neuromuscular disorder due to homozygosity for PIEZO2 gene variants causing loss of function — an important differential diagnosis for kyphoscoliotic EDS. | (O.36) |
14.10–14.20 | Delfien Syx Bi-allelic AEBP1 mutations result in a severe form of EDS: expansion of the phenotype based on two novel patients. | (O.37) |
14.20–14.50 | Refreshment Break | |
14.50–17.00 | Session VII: Rare EDS types Part II Chairs: Sandrine Gulberti and Tomoki Kosho | |
14.50–14.55 | Introduction | |
14.55–15.20 | Johannes Zschocke Periodontal EDS and the Complement Pathway. | (I.12) |
15.20–15.30 | Rebecca Gröbner Periodontal EDS links mutations in the complement 1 subunits C1R and C1S to connective tissue homeostasis. | (O.38) |
15.30–15.40 | Ines Kapferer-Seebacher Oral manifestations in Ehlers-Danlos syndrome: a systematic review. | (O.39) |
15.40–15.50 | Tomoki Kosho Structural Alteration of Glycosaminoglycan Side Chains and Spatial Disorganization of Collagen Networks in the Skin of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by CHST14/D4ST1 Deficiency. | (O.40) |
15.50–16.00 | Takahiro Yoshizawa Pathophysiological investigation of musculocontractural EDS caused by mutations in CHST14 using knock-out mice. | (O.41) |
16.00–16.10 | Tibbe Dhooge Myopathic EDS: expanding the clinical and mutational spectrum with five new families | (O.42) |
16.10–16.35 | Florence Ruggiero Zebrafish models for collagen-related diseases: what can they teach us? | (I.13) |
16.35–16.50 | Sarah Delbaere Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a ZF model for spEDS_B3GALT6. | (O.43) |
16.50–17.00 | Tim Van Damme Biallelic B3GALT6 mutations cause spondylodysplastic EDS. | (O.44) |
20.00 | Gala Dinner | |
Saturday, 29 September
9:00–10.05 | Session VIII: Current Diagnostic Approaches—Possibilities and Challenges Chairs: Paul Coucke | |
9.00–9.05 | Introduction | |
9.05–9.20 | Delfien Syx Whole exome sequencing: powerful tool for molecular diagnosis in EDS(-like) conditions | (O.45) |
9.20–9.35 | Carol Rivas Using artificial intelligence to optimize the use of existing data on the hEDS/HSD diagnosis experience. | (O.46) |
9.35–9.50 | Chloe Angwin Electron microscopy in the diagnosis of EDS: A descriptive study. | (O.47) |
9.50–10.05 | Sofie Symoens Pre-implantation Genetic Diagnostics for Heritable Connective Tissue Disease. | (O.48) |
10.00–10.30 | Coffee Break | |
10:30–12.00 | Session IX: Unmet Needs and Future Directions in EDS Research Chairs: Lara Bloom and Anne De Paepe | |
10:30–10:40 | Emma Reinhold The impact of an online clinical toolkit on EDS for General Practitioners. | (0.49) |
10.40–10.50 | Pernilla Blom A tool for general practitioners to facilitate diagnosing of suspected cases of hypermobile Ehlers-Danlos Syndrome in family medicine. | (O.50) |
10.50–11.00 | Leema Robert Development of a multipurpose mobile app for patients with EDS. | (O.51) |
11.00–11.30 | Lara Bloom, Clair Francomano, Alan Hakim, Sherene Shalhub The EDS Society: PCORI Comorbidity Project, Moonshot Project, Registries. | — |
11.30–12:00 | Fransiska Malfait, Peter Byers, Anne De Paepe Going forward: animal models, clinical trials… | — |
12.00–12:30 | Wrap-up and Closing Remarks | |
