Stichting Care4BrittleBones

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Nederland
The Hague
Stichting Care4BrittleBones

Care4BrittleBones aims to improve the quality of life of people with Osteogenesis imperfecta.

Bevorderen van wetenschappelijk onderzoek naar Osteogenesis Imperfecta (OI) om de kwaliteit van leven van mensen met OI te verbeteren.

12/08/2026

Did you know that Care4brittlebones supports research with the funding we receive? Over the coming period, we will spotlight some of the research we have supported in the past.

Improving quality of life through evidence-based rehabilitation for children with Osteogenesis Imperfecta

Physical rehabilitation plays a vital role in helping children and adolescents with Osteogenesis Imperfecta (OI) build strength, improve mobility, and achieve greater independence. But until recently, there was no internationally agreed guidance to support healthcare professionals.

An international team led by Dr. Oliver Semler (University of Cologne) and Birgit Müller (Unireha, Center of Prevention and Rehabilitation, Cologne) brought together experts from 14 countries to develop the first evidence-based recommendations for physical rehabilitation in children and adolescents with OI.

The project resulted in 17 consensus statements covering key areas of care, including:
✅ Musculoskeletal health
✅ Spine management
✅ Infant development
✅ Mobility
✅ Post-surgical rehabilitation
✅ Self-care and upper limb function
✅ General rehabilitation principles

Recognizing that every child with OI is unique, the recommendations emphasize individualized care based on disease severity and personal goals.

The impact has been truly global:
🌍 The guidelines have been shared through international educational webinars.
🌍 They are being translated into multiple languages, including Chinese and Portuguese.
🏆 The project received the HanseMerkur Child Protection Award (2019), recognizing its contribution to improving care for children.

This work continues through Foundation Care4BrittleBones, which is collaborating with experts to develop practical rehabilitation tools that empower people with OI, their families, and therapists to achieve the best possible outcomes.

Together, we're helping children with OI move with greater confidence, independence, and opportunity.

05/08/2026

Did you know that Care4brittlebones supports research with the funding we receive? Over the coming period, we will spotlight some of the research we have supported in the past.

Research Spotlight: Helping Young People with OI Take Control of Pain

Pain is one of the biggest challenges faced by many young people living with Osteogenesis Imperfecta (OI). Whether related to fractures or ongoing chronic pain, it can affect far more than physical health—impacting mental wellbeing, social participation, and school or work attendance.

Recognising that effective pain management goes beyond medical treatment alone, researchers at the University of Lisbon explored whether an online self-management programme could help young people with OI better understand and manage their pain.

The project developed a Moodle-based digital programme designed to raise awareness of pain and teach self-management strategies.

What did the study find?

💡 The online programme was successfully developed and tested with Portuguese youngsters living with OI.
💡 Keeping participants engaged proved challenging, highlighting the need for more interactive and user-friendly digital tools.
💡 The lessons learned are now helping to inform larger studies investigating pain management in OI.

While this pilot project showed that digital pain management tools need further refinement, it also reinforced an important message: pain management is a vital part of living well with OI, and there is still much to learn about how best to support children, teenagers, and adults.

Every study brings us one step closer to improving quality of life for people living with OI.

29/07/2026

Did you know that Care4brittlebones supports research with the funding we receive? Over the coming period, we will spotlight some of the research we have supported in the past.

Advancing hope for Osteogenesis Imperfecta through gene and cell therapy

What if we could switch off the genetic mutation responsible for brittle bones while preserving healthy collagen production?

Research led by Antonella Forlino (University of Pavia, Italy) explored an innovative gene and cellular therapy approach for dominant forms of Osteogenesis Imperfecta (OI)—a hereditary disorder that causes fragile bones.

Using a validated mouse model and the precision of CRISPR/Cas9 gene editing, the team successfully inserted a silencing RNA (siRNA) into a safe location in the genome. This siRNA selectively turned off the mutated collagen gene while allowing the healthy copy to continue producing normal collagen.

The long-term vision is even more exciting: correcting a patient's own cells, reprogramming them into induced pluripotent stem cells (iPSCs), and using them as a personalized treatment to regenerate healthy bone.

While further research is needed to improve the efficiency of the therapy, these findings represent an important step toward translating laboratory discoveries into future clinical treatments for people living with OI.

From bench to bedside, innovative gene therapies continue to bring us closer to personalized treatments for rare genetic diseases.

22/07/2026

Did you know that Care4brittlebones supports research with the funding we receive? Over the coming period, we will spotlight some of the research we have supported in the past.

Could stem cell therapy change the future of Osteogenesis Imperfecta (OI)?

One of the most promising areas of OI research is mesenchymal stem cell transplantation—an innovative approach that aims to improve bone development from the earliest stages of life.

Care4BrittleBones was proud to support the research led by Prof. Cecilia Götherström at Karolinska University Hospital by funding a highly specialised technique that enabled researchers to track transplanted stem cells in bone tissue.

🧬 The breakthrough?
The study confirmed that transplanted stem cells successfully reached and became incorporated into the patient's bone—an important milestone in understanding how this therapy may work.

These findings helped pave the way for the €1.6 million Horizon 2020-funded BOOSTB4 project, an international collaboration investigating the safety and effectiveness of fetal-derived mesenchymal stem cell transplantation as a treatment for OI. The project brings together leading centres, including Karolinska University Hospital, the University of Cologne, and the University Medical Center Utrecht (WKZ).

While definitive proof of the treatment's effectiveness is still being established, this research provides a strong scientific foundation to continue exploring stem cell therapy as a potential future treatment for OI—and possibly other congenital disorders.

A special thank you to Prof. Cecilia Götherström and her international collaborators for advancing this groundbreaking field of regenerative medicine.

15/07/2026

Did you know that Care4brittlebones supports research with the funding we receive? Over the coming period, we will spotlight some of the research we have supported in the past.

Sleep may be a missing piece of the fatigue puzzle in Osteogenesis Imperfecta (OI).

Fatigue affects almost everyone living with OI—but why?

A study of 151 individuals with OI explored whether sleep apnea and other sleep disturbances could be contributing to persistent tiredness.

🔹 96% reported experiencing fatigue.
🔹 87% experienced daily pain.
🔹 People with OI experienced significantly more sleep disturbances than healthy controls.
🔹 Even among those without a diagnosis of sleep apnea, 96% reported one or more symptoms associated with sleep disorders, including snoring, restless sleep, daytime sleepiness, breathing pauses, nightmares, difficulty concentrating, and restless legs.

The findings suggest that undiagnosed sleep apnea and other sleep disorders may be an overlooked cause of fatigue in people with OI. Identifying and treating these conditions could make a meaningful, long-term difference to quality of life.

This research highlights the importance of asking not only "How tired are you?" but also "How well are you sleeping?"

Key4OI brought together an outstanding international team of researchers, clinicians, and people with OI to develop the first globally agreed Core Outcome Set for OI care and research. Led by W. Nijhuis, A. Franken, G. Janus, R. Sakkers, and M. Verhoef, with project management by Dagmar Mekking and the expertise of an international multidisciplinary working group, Key4OI is helping to make OI care more consistent, patient-centred, and comparable across the world.

08/07/2026

Did you know that Care4brittlebones supports research with the funding we receive? Over the coming period, we will spotlight some of the research we have supported in the past.

Improving Osteogenesis Imperfecta care starts with listening to what matters most.

Caring for people with Osteogenesis Imperfecta (OI) is complex, making it essential to measure outcomes that truly reflect the priorities of patients and their families.

The Key4OI project brought together an international, multidisciplinary team with one shared goal: to define a standard set of outcomes for OI care and research that are meaningful, practical, and consistent across the world.

By combining patient-reported outcomes with clinical outcomes, Key4OI aims to improve care, enable better research, and help healthcare teams measure and compare outcomes in a standardized way throughout a person's lifetime.

A major milestone was reached in November 2019, when the Key4OI Core Outcome Set was agreed upon. These recommendations were shaped by an international working group and informed by 16 patient and family focus groups from around the world, ensuring the voices of people living with OI were at the heart of the process.

Together, we're building a future where OI care is more consistent, patient-centered, and driven by meaningful outcomes.

30/06/2026

Did you know that Care4brittlebones supports research with the funding we receive? Over the coming period, we will spotlight some of the research we have supported in the past.

When people think about Osteogenesis Imperfecta (OI), also known as brittle bone disease, they often think about fractures, surgeries, and physical challenges. But the impact of OI goes far beyond what can be seen.

Many people living with OI face emotional, social, and psychological challenges throughout different stages of their lives. Yet these experiences are often overlooked and under-researched.

That's why Care4BrittleBones is proud to have funded a two-year research project in collaboration with the VOI (Dutch OI Association), UMC Utrecht, and Isala. This important project focuses on understanding the psychosocial consequences of living with OI and identifying how better support can be provided to patients and families.

Research like this is only possible because of the generosity of donors and supporters. Every contribution helps fund vital studies that improve quality of life, increase understanding, and create better care for people with OI.

By supporting Care4BrittleBones, you're not only helping fund groundbreaking research today, you're helping make future research projects possible and giving researchers the resources they need to continue finding answers tomorrow.

Together, we can ensure that every aspect of living with OI is recognized, understood, and supported.

Support research. Support families. Support the future.

Adres

Het Kerkehout 3a
The Hague
2245XM

Telefoon

+31652096361

Website

https://linktr.ee/care4bb

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