About the meeting

The ICCBH biennial conference is firmly established on the international meeting calendar and regularly attracts audiences in excess of 600 delegates to hear about and discuss the latest research into paediatric bone disorders.  The next ICCBH conference is due to take place in Dublin, Ireland, on 2-5 July 2022 (postponed from 2021).  Our focus is on supporting this growing community and in view of this a virtual meeting on bone fragility disorders will be organised for 18-20 November 2020.

The Virtual Forum will comprise invited lectures, meet the expert sessions, workshops, clinical case discussions, oral communications, poster discussions and networking sessions.

The aim is to present and discuss new research in investigative, diagnostic and therapeutic management of patients with bone fragility disorders and to foster the exchange of ideas and discussion of ongoing initiatives.

The focus will be on provision of engaging content and networking opportunities for a global audience.

The meeting is organised in association with ECTS, OIF and OIFE.  OIF will organise a Virtual Young Investigators’ Symposium as a pre-meeting to the ICCBH Virtual Forum.  Details on the OIF website.

Topics

Target audience

Scientific programme

Download the programme book here
(includes the full programme, invited speaker details and other meeting information)

For a quick overview of the programme please see below:
Times shown are Central European Time (CET)

15:00-16:00

ICCBH New Investigator Networking Group meeting

Organisers: Adalbert Raimann (Vienna, Austria) & Marie-Eve Robinson (Ottawa, Canada)

Paediatric Bone Health: navigating the path to a meaningful career
Laura Bachrach (Stanford, USA)

Followed by discussion and networking

23:00-02:00

OIF Young Investigator Symposium

(separate platform, accessed through the OIF website)

14:55-15:00

Welcome

Frank Rauch (Montreal, Canada) ICCBH Steering Group Chair

15:00-16:00

Clinical care in osteogenesis imperfecta

IS1
The impact of osteogenesis imperfecta
Argerie Tsimicalis (Montreal, Canada)

IS2
Bisphosphonates in osteogenesis imperfecta: evidence and gaps in knowledge
Bente Langdahl (Aarhus, Denmark)

16:00-16:15

Posters

16:15-17:15

Oral communications 1

OC1
A multicenter study of intramedullary rodding in osteogenesis imperfecta
Mercedes Rodriguez-Celin (Chicago, USA)

OC2  New Investigator Award Winner
The zebrafish p3h1-/- models osteogenesis imperfecta type VIII and represents a tool for drug screening approaches
Valentina Daponte (Pavia, Italy)

OC3  New Investigator Award Winner
New Ifitm5 S42L mouse model for atypical type VI osteogenesis imperfecta recapitulates patient phenotype
Gali Guterman-Ram (Baltimore, USA)

OC4
Bone tissue and osteoblasts from X-linked type XVIII OI with defects in regulated membrane proteolysis have distinct features
Allahdad Zarei (Columbia, USA)

OC5
Genetic inactivation of sclerostin in a mouse model of severe osteogenesis imperfecta
Iris Boraschi (Montreal, Canada)

17:15-17:30

Posters

17:30-18:30

Workshop: Patient involvement in research

Moderators: Tracy Hart (OIF)/Ingunn Westerheim (OIFE)

Short guide to patient partnerships in rare disease research projects
Virginie Bros-Facer (Paris, France)

What I learned from involving patients in my research
Lars Folkestad (Odense, Denmark)

Patient involvement – A box to tick off or making a real difference?
Ingunn Westerheim (Oslo, Norway)

18:30-19:00

Osteogenesis imperfecta basic science

IS3
Effect of sclerostin inhibition in osteogenesis imperfecta mouse models
Ken Kozloff (Ann Arbor, USA)

19:00-20:00

Meet the expert sessions

CONCURRENT SESSIONS

Claire Hill (Sheffield, UK)
Osteogenesis imperfecta outcome measures

Charlotte Phillips (Columbia, USA)
Muscle-bone unit in osteogenesis imperfecta mouse models

20:00-21:00

Meet the speakers and networking

12:45-14:45

Pediatric Hypophosphatasia:

A Virtual Update For 2020

ORGANISED BY SOFT BONES

Overview
Michael Whyte (St Louis, USA)

Genetic etiology
Steven Mumm (St Louis, USA)

In utero and perinatal considerations
Deborah Krakow (Los Angeles, USA)

Treatment
Jill Simmons (Nashville, USA)

15:00-16:00

Genetic causes of osteoporosis

IS4
Monogenic osteoporosis
Outi Mäkitie (Helsinki, Finland)

IS5
Polygenic osteoporosis
Brent Richards
(Montreal, Canada)

16:00-16:15

Attended posters (odd numbers)

16:15-17:15

Oral communications 2

OC6  New Investigator Award Winner
Evaluation of epigenetic regulation of osteogenesis imperfecta severity with circulating microRNAs: the miROI study
Alexandre Mercier (Lyon, France)

OC7
The proteomic signature of osteoblast-derived extracellular vesicles in osteogenesis imperfecta caused by COL1A1 mutations
Hadil Al-Jallad (Montreal, Canada)

OC8
Antagonism between PEDF pathway and TGF-β pathway is implicated in type VI OI pathogenesis
Heeseog Kang (Bethesda, USA)

OC9
Bone cell functions in peptidylprolyl cis-trans isomerase B (PPIB) knock-out mouse model for type IX osteogenesis imperfecta (OI) are distinct from classical dominant OI
Ying Liu (Rockville, USA)

OC10
Establishing a critical-sized segmental defect in a mouse model of osteogenesis imperfecta
Kyle Kavaseri (Montreal, Canada)

17:15-17:30

Attended posters (odd numbers)

17:30-18:15

Moderated posters

P1
Beneficial effect of burosumab on hyperparathyroidism in children with X-linked hypophosphatemia 
Volha Zhukouskaya (Le Kremlin-Bicêtre, France)

P2
Effects of treatment with bone-targeted prostaglandin E2 receptor 4 agonist C3 (mes-1007) in a mouse model of severe osteogenesis imperfecta
Iris Boraschi (Montreal, Canada)

P3
Bone quality during skeletal development: structural and compositional adaptions on the micro- and nanoscale
Kilian Stockhausen (Hamburg, Germany)

P4
Studies of OI Patient and Murine Osteoblasts to Investigate Phenotypic Variability of Dominant Osteogenesis Imperfecta
Milena Jovanovic (Bethesda, United States)

P5
Non-collagen mutations in children with OI – a national perspective
Patrick Thorney (Sheffield, UK)

P6
Abnormal energy metabolism in a mouse model for craniometaphyseal dysplasia 
Shyam Kishor Sah (Farmington, United States)

P7
Developing and validating clinical risk prediction models for symptomatic fractures and low bone mineral density in pediatric acute lymphoblastic leukemia
Emma Jacobine Verwaaijen (Utrecht, Netherlands)

P8
Analysis of growth pattern in acrodysostosis
Diana-Alexandra Ertl (Vienna, Austria)

P9
Characterization and functional analysis of the adipose tissue-derived stromal vascular fraction of pediatric patients with osteogenesis imperfecta
Josephine T Tauer (Montreal, Canada)

18:15-18:30

Attended posters (odd numbers)

18:30-19:00

Bone fragility basic science

IS6
NOTCH signalling and bone fragility
Ernesto Canalis (Farmington, USA)

19:00-20:00

Meet the expert sessions

CONCURRENT SESSIONS

Amaka Offiah (Sheffield, UK)
Bone fragility findings through various imaging modalities

Katarzyna Piróg (Newcastle upon Tyne, UK)
Altered intracellular homeostasis in bone fragility

20:00-21:00

CONCURRENT SESSIONS

Meet the speakers and networking

Hyposphosphatasia networking

15:00-16:00

Osteoporosis in serious conditions

IS7
Management of impaired bone health in children and adolescents with eating disorders
Madhu Misra (Boston, USA)

IS8
Bone fragility and morbidity in Duchenne muscular dystrophy: management strategies and unmet needs
Leanne Ward
(Ottawa, Canada)

16:00-16:15

Attended posters (even numbers)

16:15-17:15

Oral communications 3

OC11
In-utero denosumab exposure throughout pregnancy: a case report
Jennifer Harrington (Toronto, Canada)

OC12
A data-driven analysis of bone structure in osteogenesis imperfecta using HR-pQCT images and machine learning
Pouyan Asgharzadeh (Montreal, Canada)

OC13
Recombinant human ENPP1-Fc prevents ectopic tissue calcification and restores growth in ENPP1 deficient mice 
Zhiliang Cheng (Boston, USA)

OC14
Efficacy and safety of burosumab in children and adolescents with X-linked hypophosphatemia: a prospective cohort
Volha Zhukouskaya (Le Kremlin Bicêtre, France)

OC15
In vitro safety of bisphosphonate and PTH treatment during childhood acute lymphoblastic leukemia therapy
Demi de Winter (Rotterdam, Netherlands)

17:15-17:30

Attended posters (even numbers)

17:30-18:15

Moderated posters

P10
Collagen retention perturbs homeostasis in Osteogenesis Imperfecta cells and can be rescued by a chemical chaperone
Nadia Garibaldi (Pavia, Italy)

P11
4-phenylbutyric acid likely improves the quality of extracellular matrix and promotes mineralization in patients with osteogenesis imperfecta-derived cells.
Shinji Takeyari (Osaka, Japan)

P12
Osteoporosis treatment with GIP and GLP-2 dual-agonists based on their synergistic actions in humans  – a novel therapeutic principle in children and premenopausal women suffering from bone fragility
Maria Buur Nordskov Gabe (Copenhagen, Denmark)

P13
3D image registration improves short-term in-vivo precision of bone strength in high resolution peripheral quantitative CT scans from adults with osteogenesis imperfecta in the presence of motion artefacts 
Seyedmahdi Hosseinitabatabaei (Montreal, Canada)

P14
Male but not female mice, with a dominant severe form of osteogenesis imperfecta, are protected against high-fat diet-induced weight gain
Josephine T Tauer (Montreal, Canada)

P15
Skeletal response to mechanical stimulation in children with osteogenesis imperfecta
Sivagamy Sithambaram (Manchester, United Kingdom)

P16
Craniocervical abnormalities in osteogenesis imperfecta Type V
Karissa Ludwig (Montreal, Canada)

P17
Impact of the COVID-19 pandemic on patients with osteogenesis imperfecta
Malinda Wu (Atlanta, United States)

P18
Recombinant human parathyroid hormone (1-84) replacement therapy in childhood hypoparathyroidism: a case report
Elisabeth Laurer (Linz, Austria)

18:15-18:30

Attended posters (even numbers)

18:30-19:30

Clinical conundrums: interactive cases

Where has all the phosphate gone?
Gabriele Häusler/Adalbert Raimann (Vienna, Austria)

19:30-20:00

Management of secondary osteoporosis

IS9
Management of secondary osteoporosis in children
David Weber (Philadelphia, USA)

20:00-20:05

Close

Frank Rauch (Montreal, Canada) ICCBH Steering Group Chair

20:05-21:00

CONCURRENT SESSIONS

Meet the speakers and networking

New Investigator networking

P1
Beneficial effect of burosumab on hyperparathyroidism in children with X-linked hypophosphatemia
Volha Zhukouskaya (Le Kremlin-Bicêtre, France)

P2
Effects of treatment with bone-targeted prostaglandin E2 receptor 4 agonist C3 (mes-1007) in a mouse model of severe osteogenesis imperfecta
Iris Boraschi (Montreal, Canada)

P3
Bone quality during skeletal development: structural and compositional adaptions on the micro- and nanoscale
Kilian Stockhausen (Hamburg, Germany)

P4
Studies of OI Patient and Murine Osteoblasts to Investigate Phenotypic Variability of Dominant Osteogenesis Imperfecta
Milena Jovanovic (Bethesda, United States)

P5
Non-collagen mutations in children with OI – a national perspective
Patrick Thorney (Sheffield, UK)

P6
Abnormal energy metabolism in a mouse model for craniometaphyseal dysplasia
Shyam Kishor Sah (Farmington, United States)

P7
Developing and validating clinical risk prediction models for symptomatic fractures and low bone mineral density in pediatric acute lymphoblastic leukemia
Emma Jacobine Verwaaijen (Utrecht, Netherlands)

P8
Analysis of growth pattern in acrodysostosis
Diana-Alexandra Ertl (Vienna, Austria)

P9
Characterization and functional analysis of the adipose tissue-derived stromal vascular fraction of pediatric patients with osteogenesis imperfecta
Josephine T Tauer (Montreal, Canada)

P10
Collagen retention perturbs homeostasis in Osteogenesis Imperfecta cells and can be rescued by a chemical chaperone
Nadia Garibaldi (Pavia, Italy)

P11
4-phenylbutyric acid likely improves the quality of extracellular matrix and promotes mineralization in patients with osteogenesis imperfecta-derived cells.
Shinji Takeyari (Osaka, Japan)

P12
Osteoporosis treatment with GIP and GLP-2 dual-agonists based on their synergistic actions in humans  – a novel therapeutic principle in children and premenopausal women suffering from bone fragility
Mette Rosenkilde (Copenhagen, Denmark)

P13
Matched angle image registration improves short-term precision of bone strength estimated from HR-pQCT scans of adults with osteogenesis imperfecta
Seyedmahdi Hosseinitabatabaei (Montreal, Canada)

P14
Male but not female mice, with a dominant severe form of osteogenesis imperfecta, are protected against high-fat diet-induced weight gain
Josephine T Tauer (Montreal, Canada)

P15
Skeletal response to mechanical stimulation in children with osteogenesis imperfecta
Sivagamy Sithambaram (Manchester, United Kingdom)

P16
Craniocervical abnormalities in osteogenesis imperfecta Type V
Karissa Ludwig (Montreal, Canada)

P17
Impact of the COVID-19 pandemic on patients with osteogenesis imperfecta
Malinda Wu (Atlanta, United States)

P18
Recombinant human parathyroid hormone (1-84) replacement therapy in childhood hypoparathyroidism: a case report
Elisabeth Laurer (Linz, Austria)

P19
Combined zoledronic acid and growth hormone treatment in osteogenesis imperfecta
Yael Levy-Shraga (Ramat Gan, Israel)

P20
Body composition and bone mineral density in craniopharyngioma patients: a longitudinal study over 10 years
Selveta S Van Santen (Rotterdam, Netherlands)

P21
Optimizing care through the mobility clinic for Filipino patients with osteogenesis imperfecta
Ebner Bon Maceda (Manila, Philippines)

P22
Monthly intravenous alendronate treatment can maintain bone strength in osteogenesis imperfecta patients following cyclical pamidronate treatment.
Daisuke Harada (Osaka, Japan)

P23
What skeleton imaging modality is best for assessing bone health in children and young adults?
Heba Shalof (Sheffield, United Kingdom)

P24
What is the correlation between skeletal burden score and functional outcomes in fibrous dysplasia?
Arwa Alhulwah (Sheffield, United Kingdom)

P25
A case of Vitamin D-dependent rickets type I, presenting with failure to thrive and marked hypotonia.
Artemis Doulgeraki (Athens, Greece)

P26
Infant with hepatoblastoma and rickets. Is there a link?
Artemis Doulgeraki (Athens, Greece)

P27
Can hypokalaemia be a complication of pseudohypoparathyroidism?
Amanda Peacock (Sheffield, United Kingdom)

P28
Juvenile Paget’s disease: case report of a rare condition
Ana Rita Prata (Coimbra, Portugal)

P29
Modification of the osteogenesis imperfecta quality of life scale – pediatric version (OIQoL-P) and development of a parent-report version
Claire Hill (Sheffield, UK)

P30
Osteogenesis imperfecta cannot be excluded by fracture type
Amy Bobyn (Edmonton, Canada)

P31
Osteogenesis imperfecta type 1 in a patient with pseudo-vitamin D deficiency rickets: when a rare genetic bone disease hides another
Kim Phung (Montreal, Canada)

P32
Novel pathogenic heterozygous SLC34A1 mutation in a patient with idiopathic infantile hypercalcemia
Kim Phung (Montreal, Canada)

P33
The use of phospho-soda solution in management of an 11-year-old boy with hypophosphatemic rickets and pre-existing nephrocalcinosis
Ghaisani Fadiana (Jakarta Pusat, Indonesia)

P34
PHEX mutation in a Malaysian hypophosphatemic rickets patient
Tzer Hwu Ting (Serdang, Malaysia)

P35
Late presentation of vitamin D dependent rickets type-2 (VDDR II) following hepatic transplantation for progressive familial intrahepatic cholestasis (PFIC)
Sumudu Nimali Seneviratne (Colombo, Sri Lanka)

P36
Case history: A premature infant with multiple fractures
Sumudu Seneviratne (Rajagiriya, Sri Lanka)

P37
Hepatic osteodystrophy: an under-recognised complication of chronic liver disease
Sumudu Seneviratne (Rajagiriya, Sri Lanka)

P38
Children with osteogenesis imperfecta sustain patella injuries relatively commonly and undergo variable management.
Hannah Bassett (Bristol, United Kingdom)

P39
Health-related quality of life in paediatric patients with osteogenesis imperfecta
Adalbert Raimann (Vienna, Austria)

P40
Growth hormone treatment improves final height in children affected by X-linked hypophosphatemia
Volha Zhukouskaya (Paris, France)

P41
Craniofacial and dental phenotype of two girls with osteogenesis imperfecta due to mutations in CRTAP
Juliana Marulanda (Montreal, Canada)

P42
Fibrodysplasia ossificans progressiva masquerading as nodular fasciitis
Tiffany Sin-ting Lai (Hong Kong, Hong Kong)

P43
Establishing the first pan-European Registry for Rare Bone and Mineral Disorders: EuRR-Bone
Marina Mordenti (Bologna, Italy)

P44
Experiences of delivering virtual therapy groups for children with osteogenesis imperfecta during the Covid-19 pandemic
Lisa Mills (Bristol, United Kingdom)

P45
Inactivation of the Gorab gene does not alter the mechanoresponse
Beatrice Steyn (Montreal, Canada)

P46
Bone mineral density and content for forearm in children athletes; gymnastics vs swimmers
Magdy Abouzeid (Alexandria, Egypt)

P47
Calvarial doughnut lesions with bone fragility: a story of 6 generations in a French-Canadian family
Shuaa Basalom (Charlottetown, Canada)

P48
Post-transplantation refractory hypercalcemia in osteopetrosis caused by a novel mutation in TNFRSF11A (RANK)
Marie-Eve Robinson (Ottawa, Canada)

P49
Genetic heterogeneity of osteogenesis imperfecta in a large Turkish cohort
Sare Betul Kaygusuz (Istanbul, Turkey)

P50
Clinical themes from a contemporary series of children with Type XI osteogenesis imperfecta associated with FKBP10
Christine P Burren (Bristol, United Kingdom)

P51
Impacted permanent dentition in an adolescent with osteogenesis imperfecta type XII
Joanna Yuet-ling Tung (Hong Kong, Hong Kong)

P52
Clinical outcome of patients with osteogenesis imperfecta on intravenous pamidronate treatment at the Philippine General Hospital from 2010-2018
Cheryll Magbanua-Calalo (Quezon City, Philippines)

P53
Acute lymphoblastic leukemia in a child with osteogenesis imperfecta type V
Renee Anne Karmela L Feliciano (Metro Manila, Philippines)

P54
Panostotic fibrous dysplasia in newly diagnosed McCune Albright syndrome: an Indonesia experience
Frida Soesanti (Jakarta, Indonesia)

P55
Lithuanian boy with osteogenesis imperfecta in combination with pseudoachondroplasia
Rasa Traberg (Kaunas, Lithuania)

P56
Known COL1A1 variant, expanded phenotype?
Catarina S. Rosas (Coimbra, Portugal)

P57
Osteogenesis imperfecta in mother – baby dyads – what a difference a bisphosphonate makes?
Sarah-Jane O’Riordan (Dublin, Ireland)

P58
Chronic and refractory hypocalcemia in an infant with autosomal recessive polycystic kidney disease
Patricia Diaz Escagedo (Montreal, Canada)

Sessions will be recorded and made available until 31 December 2020 for delegates to revisit or to view in their own time.

Continuing Medical Education (CME)

The meeting is approved for 14 CME credits by the European Accreditation Council for  Continuing Medical Education (EACCME) under code LEE20-01198.  

Guidelines for speakers and poster presenters

Please follow the links below to access the presentation and moderator instructions:

Speakers, oral communications and moderated posters

Poster presenters (P1-P58)

Moderators

Workshop and Meet the Expert sessions – presenters and moderators

Abstract and clinical case submission

The abstract deadline has passed.  Thank you to all who submitted work for consideration for presentation at the meeting.  Acceptance notifications will be sent out on 16 October.

In case you have any queries about abstract or clinical case submissions please do not hesitate to contact us.

Abstracts will be published in JBMR Plus.

Presenting at the virtual forum will give you an opportunity to network with a global audience and in particular to:

  • Showcase your current work
  • Get support and feedback from others 
  • Raise your profile among colleagues internationally and from multiple disciplines
  • Widen your network to open up new opportunities for future collaborations

New Investigator Awards

Two New Investigator Awards will be offered according to mean score achieved during the blind reviewing process.  Awards winners will be notified by email on 16 October 2020. 

To be eligible an author must be:

  1. First and presenting author
  2. Must be in training or within 3 years of attaining PhD or MD or equivalent and/or aged under 35

There is a box on the abstract form for confirmation of eligibility.

Best Poster Awards

In addition there will be awards for the two Best Posters, as selected by the meeting attendees.

Fees

Standard registration: €150

Reduced registration: €90*

A late registration fee of €30 will apply to registrations received after 23:59 CET on 30 October 2020.

*Discounted rate

To register at the discounted rate you must be one of the following:

  • an undergraduate
  • a current MD/PhD student
  • within 5 years of obtaining an MD/PhD
  • an Allied Health Professional
  • a registered patient group representative*
  • based in a low or developing income country (see list

The meeting programme is designed for healthcare professionals and researchers.  Pharma industry regulations do not allow open invitations to members of the public to attend.  However, patient organisation representatives are encouraged to register to attend the meeting provided they meet the following criteria:

  • They represent a formally registered international organisation with elections (or national with some international activities) and
  • They are a member of the management group or are officially nominated by the management group or are a paid member of staff

Cancellations 

Cancellations will be accepted in writing until 23:59 on Friday 6 November, until which time a 70% refund will be given. There will be no refunds for cancellations received after this date.

Italian agency

Any Italian pharmaceutical company supporting or participating in a congress abroad, is subjected to an authorization by AIFA (Italian Drug Agency), according to an Italian Government Decree (Decreto Legislativo 219/06 – art. 124).

The authorisation request must be submitted within 70 days before the start date of the event. The appointed agency to collect all applications from pharmaceutical companies and file them with the AIFA is:

Benedetta Cambria
Alijet & Fargo International Srl
Via P. Maroncelli 44-46-48-50
50137 FIRENZE, Italy

Sponsorship

The meeting will offer a high quality scientific programme of interest to both clinical and basic scientists.

Attendees will be from a multidisciplinary background, including paediatricians, endocrinologists, rheumatologists, nephrologists, nutritionists, orthopaedic surgeons and others, giving you the opportunity to raise your profile with a broad global audience.

To discuss please contact us.

Deadlines

1 October 2020

16 October 2020

30 October 2020

16 November 2020

18-20 November 2020

Abstract deadline

Confirmations to authors

Late registration period begins

Platform opens

Meeting dates

Organisers

Organised by ICCBH in association with ECTS, OIF and OIFE

Organising committee

Frank Rauch (Montreal, Canada) (Meeting Chair)
Nick Bishop (Sheffield, UK)
Alison Boyce (Bethesda, US)
Antonella Forlino (Pavia, Italy)
Gabriele Häusler (Vienna, Austria)
Wolfgang Högler (Linz, Austria)
Alex Ireland (Manchester, UK)
Outi Mäkitie (Helsinki, Finland)
Ciara McDonnell (Dublin, Ireland)
Craig Munns (Sydney, Australia)
Leanne Ward (Ottawa, Canada)

Contact

For queries and further information:

Janet Crompton, ICCBH
iccbh@ectsoc.org

Social Media

Please use the hashtag

#iccbhonline

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