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.


See, Hear, Smile!

2 Weeks left until Early Bird Deadline!

Are you a professional who’s interested in eyes, ears and teeth of people with OI? Or basilar invagination (BI)? Do you yourself have issues related to this? Then we invite you to take part in our seminar See, Hear, Smile! from June 14th – 15th in Riga, Latvia. Everyone interested in the topics is welcome to attend.

Target group:
– Dentists, orthodontists and other professionals working with teeth & jaws
– Clinicians & researchers with an interest in eyes, ears or basilar invagination (BI) in OI
– Clinicians & researchers with an interest in OI in general
– OI-community (people with OI, family members, staff and volunteers)
– Professionals & people connected to other rare bone diseases

More information can be found here:

Please help us spread information about the event to professionals you know who are working with the relevant topics, or others you think might be interested!



OIFE’s 26th Annual General Meeting (AGM) will be held in Riga, Latvia from June 15th – 16th following the topical meeting See, Hear, Smile! If you plan to take part in both the topical meeting and the OIFE AGM, you need to register for BOTH events separately.

June 15th 14.30 – June 16th 14.00

Riga Tallink Hotel

Each year all OIFE delegates are invited to the Annual General Meeting (AGM). Any member from our 34 member organizations can attend the AGM, but only the official delegates from a paying member organization are allowed to vote. OIFE volunteers, volunteers from other organizations, professionals and other people with an interest in OIFE can be invited.

At the AGM the Executive Committee of OIFE accounts for OIFE’s activities in the past year. Future plans and policies are discussed and members exhange news and ideas.

More information & registration can be found here.




OIFE Youth Event – Registration is open!

The OIFE Youth event will take place between 23rd to 27th, October 2019 in Bilbao, Spain.

The goals of the OIFE Youth Event are:
– sharing experience & ideas across borders
– networking and getting to know young people with OI in other countries
– social activities and fun
– to create awareness about OIFE to young people in Europe

Target group: People with OI age 18-35 from European countries.

The deadline for registration is the 30th April. Click here to register!

Venue: BBK Bilbao Good Hostel –

Please send any questions you might have regarding registrations to e-mail:

See flashbacks from OIFE Youth Event 2018 here.



Share your experience with treatments


Then OIFE & EURORDIS is interested in hearing from you. Take 10 minutes to complete the new #RareBarometer survey on your experience of rare disease treatments and share your views.

Survey available here in 23 languages:

NOTE! New this time is that you don’t have to register to receive future updates from Rare Barometer Voices to do the survey.

If EURORDIS gets enough answers from people with OI (worldwide), OIFE can get aggregated data for our diagnose, which we can use in our European policy work.


Networking in Brussels

OIFE had several representatives in Brussels attending the 3rd EURORDIS Multi-Stakeholder Symposium on Improving Patients’ Access to Rare Disease Therapies ( in February 2019.

During the conference there were also opportunities to network. Here with representatives from Open App, Bindeweefsel.Be and Mereo.

What was interesting to know? Our Honorary Member Taco van Welzenis gives an overview in the following report titled “More therapies for rare diseases!”:

Relevance for OI
EURORDIS, an alliance of 851 rare disease organizations, including OIFE, was the organizer of this event. The purpose was to discuss how more new therapies can be made available to rare disease patients. Many stakeholders like pharma companies, policy makers, politicians and rare disease patients were present. The 500 “most common” rare diseases constitute 98% of rare disease patients, the other 6500 “ultra rare” diagnoses are just 2% of patients. At this moment 95% of rare disease patients do not have a therapy available for their condition.

EURORDIS has therefore set the ambitious goal to get 3 to 5 times more new therapies approved per year for 3 to 5 times less of the cost by 2025. In 1999 the EU Orphan Drug Regulation (ODR) came into force, under the ODR 143 new products have been approved so far. The ODR attracts development of new medicines to Europe, thereby speeding up availability to the European market of the resulting products. OI is a relatively rare diagnosis with several new drugs for it in the pipeline – and possibly more in the near future – so the question of availability of new therapies is fully relevant to our community.

New therapies do not always reach the patient
But why is this such an issue? That becomes clear when we look at the chain of events that has to take place before a new therapy becomes available; Investment – Research – Authorization (EU level) – Assessment (mostly supranational) – Price negotiation, Allowance and Reimbursement (national level). Many complications can arise along this chain. Sadly this means potential good therapies sometimes fail to reach the patient. It can be because no agreement can be reached about the price, (very unsatisfying!), or the number of patients is too small to statistically prove efficacy. When an effective therapy exists but is not available for patients this can give rise to – illegal – production of the medication by hospitals, mistrust between parties and most importantly, huge frustration for patients.

The chain of events to reach a new therapy
Investors only want to give money when they expect a good return on their investment, the same for pharma companies (industry), who have to make a profit. Tests have to be done for effectiveness, safety and dosage. Rare disease therapies are a niche market and often smaller companies with less economic resources specialize in them. In Europe a central body decides about market authorization of therapies, the European Medicine Agency (EMA). When a product fulfils some strict criteria EMA can give it “orphan drug designation”. This is highly desired because this also means that for the first years a company gets exclusive access to the EU market.

Next health technology assessment (HTA) bodies look how well the effect and safety have been proven, what the value is to the patient, what the side effects are and how this compares to the price that industry is asking. Often HTA assessment is done for several countries combined. Finally the national health care authority of each state negotiates with industry about the price and decide about allowance on the market and conditions for reimbursement at the national level. Besides the HTA assessment also the national healthcare budget plays a role here, which is both an economic and a political issue. Some of the wealthier states still spend relatively little on healthcare. A government can decide to prioritize care for rare diseases. Budgets and policies may change with each new government. Some people argue that rare disease therapies are very expensive, while some are indeed, most are not overly expensive. Because of the small number of patients the total costs amount to only 3-5 % of the total healthcare budget. Recently costs have received renewed attention because research into rare diseases also gives us therapies for common diseases, some of these innovative therapies are expensive which is a budget issue.

Possible solutions
The EU is supposed to function as a single market. But for medications this does not hold true. The reality is that we deal with some medium sized markets like France and Germany and over 20 small markets. This leads to higher prices and inequality within Europe when it comes to access. A real single market would seem the best way forward. If the EU could go to the negotiating table as one, representing perhaps hundreds or thousands of patients per rare diagnosis – it would be in a stronger position to negotiate a good deal with industry. EU wide transparency is easier for investors and pharma too, instead of negotiating 28 times about (ultra) small numbers of patients and dealing with many different HTA bodies. It would undoubtedly boost investment and therapy development. United the EU could also try to tackle some issues like industries trying to make huge profits with repurposing existing medications or massive increases in price once a drug has been proven effective.

In order to harmonize policies in Europe however, countries have to be prepared to give up some control over their budgets and policies, and it also demands economic solidarity between EU members. Patients with a rare disease have an equal right to care and new therapies. This point has been made at the EU level but it has not been translated into policy enough yet. If we adhere to this ethical standard it follows that we should be prepared to invest in rare disease therapies until the same level of care has been achieved as for more common conditions. Patient outcomes and all aspects of value should be taken into account when deciding about acceptable price levels. If we apply less strict rules for proof of effectiveness (not safety) at the point of market authorization that will speed up availability too. This can be done if the EU sets aside some money for evaluation of the effect at a later stage. As OIFE we can advocate for a fairer, more transparent sustainable system, encourage a Europe wide y, further cooperation between the national healthcare systems, challenge misconceptions about orphan drugs, support EURORDIS and take part as patient experts at as many levels of the process as possible.

Taco van Welzenis, OIFE Honorary Member

You can see a recording of the whole conference here:


The Voice of People with OI

One of OIFE’s goals is to represent our members on an international level and be the voice of people with OI and their families.

One of our representatives is Rebecca T. Skarberg. She is the voice of people with OI in the European Reference Network for Rare Bone Disorders (ERN-BOND), who had their annual technical meeting in Brussels this week. You can read more about ERN-BOND at their newly launched webpage:

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