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