Symposium on stem cells & OI in India

Written by Eva Åström, member of OIFE Medical Advisory Board

OI symposium in Vellore India

The Centre for Stem Cell Research at the Christian Medical Collage in Vellore, India arranged a two day symposium on OI and stem cell treatment on the 6th – 7th of February 2019. The aim was to provide a platform for scientist and physicians working in this field of research to come together and discuss the recent developments for better diagnosis and management of OI. Invited speakers from Australia, India, Sweden, UK and USA were participating in person, by video link or recorded video lecture followed by skype discussions.

“Translational research in OI & Cell Therapy”

The main focus for the first day was “Translational research in OI & Cell Therapy” with the main topics: prenatal diagnosis (Suresh), clinical assessment and management (Åström), radiological assessment (Gibikote), update on OI classification (Sillence), molecular diagnosis (Shah), surgical management (Fernandez), medical management (Åström/Sillence), Quality of Life, physiotherapy (Hill), cell therapy (Horwitz) fetal Mesenchymal Stem Cells (MSC) therapy (Götherström), BOOST2B collaboration (Madhuri) and role of DXA (Paul).

“Current Regulatory and Ethical Requirements for Conducting Cell Therapy Based Clinical Trials/Research”

The theme for day 2 was “Current Regulatory and Ethical Requirements for Conducting Cell Therapy Based Clinical Trials/Research”. Main topics were the need of dialogue between regulators and investigators and industry (Srivavtava), current challenges in regulations of production, distributing end export/import (Hedenskog), regulations in India (Gopta) and Europe (Franzén), regulatory changes in India (Nair), manufacture and quality assurance of MSC (Walther-Jallow), requirements for reconstitution (Goos), graft manipulations for allogenic SC-transplantation (Mathews), requirements for a new cell-scaffold product trial in India and clinical trials using them (John/Madhuri) and finally clinical concerns and regulatory strategies for implementation (Walther-Jallow).

During two intense but extremely well-organised days in beautiful surroundings and an outdoor temperature of 35 degrees we connected and learned from each other.

Eva Åström (OIFE Medical Advisory Board member): Front row, second from right

Participants of topical meeting See, Hear, Smile!CONFERENCES

Abstracts See, Hear, Smile!

A great topical meeting has come to an end. More than 82 people from 22 countries met in Riga, Latvia from June 14th – 15th to discuss and learn about eyes, ears and teeth of people with OI. The event had a lot of positive feedback already, and we feel we succeeded in creating an arena where newer research, treatment methods related to eyes, ears and teeth of people with OI could be presented. The abstracts can be accessed here.

Our hope was to create informal networks between professionals working on these topics and that it could inspire new projects and ideas.

Thank you to all invited speakers, presenters, volunteers and participants! You made sure it was an event to remember. For more photos and impressions from #SeeHearSmile – please visit our Facebook page.

See, Hear, Smile had more than 80 participants from 22 countries: Researchers, clinicians, patient representatives and other people interested in eyes, ears and teeth of people with OI.

Call for abstracts

Are you a clinician or researcher interested in OI? Then the conference Quality of Life 4 OI is waiting to hear from you.

Key dates to keep in mind:

  • 1 June 2019, 23:59 CET: Abstract submission deadline
  • 1 July 2019: Notifications to authors

Submitting your abstract provides you with an opportunity to:

  • gain visibility for your current research or clinical 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
  • have your abstract published in the conference abstract book (and potentially online, to be confirmed)
  • be eligible for a grants and awards. More information will come available in April
  • and make an impact on Quality of Life for OI, but sharing your knowledge and valuable experience!

The following grants will be available based on (potential) impact on Quality of life for OI and will be determined before 1 July:

  • one or several free conference tickets (depending on funding availability)
  • the opportunity to run a 45 minutes workshop on the topic of your abstract

During the conference delegates choose the winner of the “Care4BrittleBones Award” which will enable a presentation of 15 minutes on the final day and a special surprise.

If you have any questions in relation to the abstract process, please contact the organizers!

Read more about the conference here:



Identifying Gaps in OI Research

By Dr. Antonella Forlino, member of OIFE’s Medical Advisory Board

Report from OIF Investigator meeting 2019

It was a great pleasure to be sponsored by OIFE to participate at the 19th Annual OI Foundation (OIF) Scientific Meeting held in Chicago on April 10-12 and co-chaired by Dr Marini and Dr Raggio. The American Scientific Community involved in OI research met to discuss the extremely stimulating topic “Identifying Gaps in OI Research”. Basic, translational and clinical researchers were present. It was a great opportunity to have deep discussions various OI related questions in a friendly and stimulating environment.

Dr. Marini opened the meeting with a brilliant overview on our current understanding of the disease in terms of different OI types, their molecular basis and clinical manifestation.

“The Role of Cellular Metabolism and ER stress”

The first Session on “The Role of Cellular Metabolism and ER stress” moderated by Peter H Byers provided an exciting update on the relevance of cell homeostasis as modulator for OI bone phenotype. The accumulation of mutant collagen type I in many OI types has been demonstrated in several studies and the modulation of its intracellular fate has been pointed out as possible target for novel treatments. To stimulate protein folding using chemical chaperones as well as to enhance protein degradation by favoring autophagy have both been considered valid approaches.

John Bateman presented new data on the effect of autophagy enhancement by rapamycin treatment using the OI murine model Amish carrying a G610C substitution in the α2(I) chain of collagen I. From this study a poor efficacy of autophagy stimulation in ameliorating bone properties emerged, even if positive effect on bone trabecular mass was evident (Bateman JF, et al. J Cell Mol Med. 2019;23(3):1735-1745). Sergey Leikin described a new non-canonical autophagic mechanism for intracellular mutant collagen degradation, identifying a new potential target for therapy (Omari S, et al. Proc Natl Acad Sci U S A. 2018;115(43):E10099-E10108).

Dr Forlino using in vitro and in vivo approaches demonstrated the goodness of the chemical chaperone 4-phenylbutyrate in ameliorating cell homeostasis (Besio R, et. Al. Biochim Biophys Acta Mol Basis Dis. 2018;1864(5 PtA):1642-1652. and Gioia R, et al. Hum Mol Genet. 2017;26(15):2897-2911).

Finally, Dr Phillips illustrated an interesting and novel link between muscle weakness and mitochondrial dysfunction in OI using the oim murine model (Gremminger VL, et al. J Bone Miner Res. 2019).

“OI Type VI and Atypical OI Type VI and the pathway connecting them”

Session 2 “OI Type VI and Atypical OI Type VI and the pathway connecting them” chaired by Dr. Schwarze, was focused on the recessive OI forms type V and VI caused by mutation in IFTIM5 and PEDF genes, coding for the protein BRIL and Pigment Epithelium Derived Factor, respectively. Interestingly, a specific mutation in BRIL (S40L) generates in human a clinical outcome resembling mutation in PEDF, but the biochemical bases are still uncertain. A cross talk between PEDF and TGFβ in modulating PPARγ expression during osteogenic differentiation was proposed by Dr Kang. The role of PEDF in osteoblasts differentiation and the potential use of a PEDF mimetic peptide was presented by Dr. Niyibizi. The very peculiar phenotype associated to overexpression in mice of the protein BRIL carrying the human S40L mutation, responsible for the unusual OI type VI phenotype presented by Dr Moffatt and the new knock-in model carrying the S42L mutation generated by Dr. Guterman-Ram will open new possibility to understand the role of BRIL in osteoblasts function.

“Bone cells and transplant”

In session 3 “Bone cells and transplant” chaired by Dr Nagamani, an update on the potentiality of local transplantation of skeletal progenitor in murine model was provided by Dr Sinder and Dr Morello presented new RNAseq data that will help to dissect the role of osteocytes in the OI disease development.

“Response of Murine Models to therapeutic antibodies”

Session 4 was focused on the “Response of Murine Models to therapeutic antibodies” and chaired by Dr Glorieux. Dr Kozloff presented data on the effect of anti-sclerostin on cranial bone in a murine model of OI, further confirming the goodness of the therapy. A novel system based on the use of patient’ bone chips subcutaneously implanted in nude mice, followed by local antibody injection, has been presented as tool to evaluate the patient specific effect of the drug. Dr Rauch reported interesting data on the limited effect of anti-TGFβ antibody treatment in the severe OI model Col1a1Jrt/+ mice (Tauer JT, et al., J Bone Miner Res. 2019;34(2):207-214).

“Surgical Fractures and healing”

In Session 5 “Surgical Fractures and healing” chaired by Dr. Kruse, Dr. Smith, Dr. Zieba, Dr. Franzone, Dr. Robinson addressed the questions of OI fracture healing using OI murine model and OI patients observation. A better understanding of fracture repair in OI is necessary to improve the treatment of OI fracture, also considering rodding and bisphosphonate treatments.

“Clinical Natural History”

Session 6 focused on the “Clinical Natural History” of OI was chaired by Dr Rush. Dr. Raggio, who suggested cardio-pulmonary screening for all patients, discussed the cardiac and pulmonary complications in adults affected by OI. Dr. Marini presented a standardized chart for growth/BMI in classical OI (Barber LA, et al. Genet Med. 2018). The session closed with an innovative study on the OI cornea presented by Dr. Moroi.

“Updates on Treatment Protocols”

Session 7, chaired by Dr. Rauch was focused on the “Updates on Treatment Protocols”. A preliminary update of the status of the two clinical trials: Mereo trial (Setrusumab, anti-sclerostin antibody) and Fresoluminab trial (Anti-TGFb antibody) was provided by Dr. Nicoal and Dr. Nagamani, respectively.

Current treatment for OI

Dr. Shapiro closed the meeting with a discussion on the current treatment for OI.


Quality of Life 4 OI

Make sure you mark the date November 22nd – 25th 2019, when the international conference QualityofLife4OI will take place in Amsterdam. The conference is an initative from Care4Brittle Bones and is hosted by a coalition of OI-organizations (Care4BB, OIFE and OIF), Medical professionals (ERN – BOND) and the Industry. It is coordinated by Foundation Care4BrittleBones.

The Conference provides a platform to engage about clinical practice and research for people affected by OI. What is the expert opinion on good clinical practice in diagnostics, clinical assessment and treatment of OI today? What do people with OI need most to have good quality of life? What research needs are currently unmet? How can the efficacy of a trial of clinical treatment be evaluated with metrics that make sense for regulatory authorities as well as people with OI? Both qualitative and quantitative aspects will be discussed in an interactive and international setting.

The Conference aims to bring together professionals and people from the OI-community:

  • clinicians of all disciplines supporting OI,
  • researchers working on OI-related projects
  • anyone from the OI-community with an interest in research beyond the personal level
  • representatives from industry supporting OI
  • other stakeholders interested in OI

It will provide an opportunity to meet, learn, network and get inspired to improve quality of life for people with OI across borders, professions and boundaries.

Interested to hear more and potentially attend?
Subscribe to the conference cewsletter via this link:

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