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Dr. Laura Tosi talks to a patient

Refining criteria for childhood skeletal fragility and osteoporosis

Dr. Laura Tosi talks to a patient

Orthopaedic surgeon Laura Tosi, M.D., presented information about bone fractures and skeletal fragility in children at this year’s POSNA Annual Meeting.

It’s true that broken bones are often a typical part of childhood, says international bone health expert Laura Tosi, M.D., an orthopaedic surgeon at Children’s National Hospital. But for some children, a single bone fracture under the right circumstances may be a signal that a child needs a closer look to rule out underlying skeletal fragility.

Dr. Tosi presented on this topic as part of the Pediatric Orthopaedic Society of North America’s (POSNA) 2020 Annual Meeting. The presentations were conducted virtually this year due to COVID-19.

“We know that between 27 and 40% of girls, and 42 to 51 percent of boys will have at least one fracture during childhood,” she says. “What we have also seen over time is that almost 40 percent of children who have one fracture will have more. How do we tell which children with a fracture may need our help to avoid future ones?”

During her session, Dr. Tosi discussed how adding more nuance to clinical evaluation criteria for childhood fractures can help identify which children should be evaluated for conditions affecting bone density.

To widen the scope and make sure an underlying bone density issue is detected and treated as early as possible, Dr. Tosi says there are some specific findings that should suggest the need for further exploration:

  • Does the child have an a priori risk for a fragility fracture due to a genetic bone disorder(such as osteogenesis imperfects (aka brittle bone disease) or immobility caused by a disorder such as spina bifida, cerebral palsy or muscular dystrophy?
  • Is there a mismatch between the fracture severity and level of trauma that led to the injury?
  • Does the child’s history include any of four factors known to be associated with increased fracture risk: early age at the time of the first fracture, intolerance to cow’s milk, low dietary calcium intake or high BMI values.
  • Does the child have a vertebral compression fracture?
  • Is there a family history of frequent fractures (which may indicate a previously unidentified genetic condition)

Dr. Tosi also laid out specific evaluation steps for a skeletal fragility condition when a child’s fracture meets criteria, including:

  • Family, nutrition and exercise histories
  • A detailed physical exam
  • Complete radiograph review, including previously existing films and bone densitometry
  • Rule out rickets and child abuse
  • A complete lab work up

“It can be extremely challenging to identify if a child’s first bone fracture is a result of typical childhood activity or something else,” says Dr. Tosi. “But the risks of waiting to evaluate a fracture that meets some of the criteria above may mean we are delaying a treatment that might improve bone density and prevent a future fracture altogether — which is always what we’d hope to do.”

In the past, bone health experts felt that the word “osteoporosis” should not be used in children and pushed for the term “low bone density for age.”  That perspective has begun to change thanks to important advances in our understanding of the genetic basis of bone fragility, the important role of chronic conditions and how the use of bone-active medications can significantly reduce fracture risk and improve function in certain conditions.

She then spoke about the benefits of early detection for conditions causing skeletal fragility by presenting compelling evidence of the resiliency of a child’s bones when they are managed appropriately.

She noted that she’s seen significant bone remodeling in patients with serious bone degeneration due to osteogenesis imperfecta and leukemia, for example, thanks to early detection and treatment.

“Our knowledge of bone density and bone health is improving, but is still imperfect,” she concluded. “But as we learn more, and are able to appropriately identify and treat kids with skeletal fragility or osteoporosis earlier, we can continue to refine how we evaluate and care for all of them.”

Dr. Lauri Tosi examines a patient

Building patient-centered outcomes research in osteogenesis imperfecta

Dr. Lauri Tosi examines a patient

Children’s orthopaedic surgeon Laura Tosi, M.D., is the co-lead on a program to improve patient-centered outcomes research and education in osteogenesis imperfecta that recently received a Eugene Washington Engagement Award of $250,000 from the Patient-Centered Outcomes and Research Institute (PCORI).

Children’s orthopaedic surgeon Laura Tosi, M.D., is the co-lead on a program to improve patient-centered outcomes research and education in osteogenesis imperfecta (OI) that recently received a Eugene Washington Engagement Award of $250,000 from the Patient-Centered Outcomes and Research Institute (PCORI). Dr. Tosi serves as project co-lead alongside colleagues Tracy Hart, project lead, from the Osteogenesis Imperfecta Foundation (OIF) and Bryce Reeve, Ph.D., co-project lead, director of the Center for Health Measurement at Duke University.

The project, which will be housed at the Osteogenesis Imperfecta Foundation, will run for two years and seeks to:

  • Create a community of stakeholders (patients/caregivers/clinicians/researchers) who are trained or training in patient-centered outcomes research, with specific attention to priority topics identified by the OI community.
  • Expand communications and education strategies related to patient-centered outcomes research to enhance the care of the OI community.
  • Establish and extend the capacity among patients, caregivers, clinicians and researchers in OI to participate in both patient-centered outcomes research and comparative effectiveness activities.
  • Develop an OI-specific toolkit focused on disseminating evidence-based clinical care recommendations to stakeholders and care providers, based on sustainable input from the OI community.
  • Extended the reach of these activities to support other rate bone disease communities.

Osteogenesis imperfecta is a group of genetic disorders causing connective tissue dysfunction and bone fragility. It is the most common of nearly 450 rare skeletal disorders and affects an estimated 25,000 to 50,000 people in the U.S. Collecting the patient’s perspective about natural history, clinical best practices, quality of life and research priorities is challenging because, like so many rare diseases, the affected population is relatively small and  geographically dispersed.

“We hope this project will give us the ability to develop a set of best practices for care and research based on research that incorporates the patient’s point-of-view,” says Dr. Tosi. “I’m excited to work with this team and begin to change how we think about and care for OI patients and their families.”

Laura Tosi

Giving voice to adult osteogenesis imperfecta patients

Laura Tosi

“I have a number of OI patients moving into adulthood who cannot get care in the adult world, because my colleagues who care for adults have less experience with the disease and because caring for OI adult patients is largely uncharted territory,” says Laura L. Tosi, M.D.

With the influx of increasingly effective technology at our fingertips, the landscape of patient care for complex diseases has changed for the better in recent years. Doctors and researchers can accelerate new discoveries and improvements in patient care by querying and utilizing patient data gathered from all over the world.

For Laura L. Tosi, M.D., director of the Bone Health Program at Children’s National Health System, these changes have galvanized years of research into patients with osteogenesis imperfecta (OI), a population that is particularly difficult to trace into adulthood.

OI is a rare genetic disorder characterized by excessively fragile bones with a high susceptibility to recurrent fractures. Commonly known as “brittle bone disease,” OI is mostly caused by mutations in type I collagen genes. The severity of the disease varies widely and a cure for OI still remains to be found. Currently, treatment methods include medications, physical and occupational therapy, as well as surgery – all of which aim to reduce risk of further fracture, help patients manage pain and promote a healthy lifestyle.

Two of the most critical challenges that accompany the treatment of rare diseases, however, are the paucity of data on the adult patient experience and the challenge of transitioning patients safely from the multispecialty clinics frequently available in childhood to adult care givers who may have never seen the disorder in their career.

Through her research, Dr. Tosi aims to fill these critical knowledge gaps, and has found the Patient-Reported Outcome Measurement Information System (PROMIS®), the patient-reported outcome platform funded by the National Institutes of Health, to be particularly advantageous.

PROMIS® harnesses a set of measurement tools that uses computer adaptive technology and person-centered measurements to evaluate and monitor physical, mental and social health in adults and children. These tools quickly tailor themselves to individual responses and, because of their user-friendly design, provide a level of convenience and easy accessibility that other platforms lack.

“I have a number of OI patients moving into adulthood who cannot get care in the adult world, because my colleagues who care for adults have less experience with the disease and because caring for OI adult patients is largely uncharted territory,” says Dr. Tosi. Realizing the importance of giving voice to adults with OI, Dr. Tosi has harnessed a diverse range of standardized PROMIS® tools to attempt to capture a more complete understanding of the patient experience, ranging from the quality of social participation and peer relationships to physical and emotional distress.

When her first PROMIS®-based mailing to patients received an overwhelming response of more than 1,100 respondents in just 90 days, Dr. Tosi knew that pushing this research forward and out into the community was imperative. The results from that first survey, published in 2015 in the Orphanet Journal of Rare Diseases, demonstrated that adults with OI generally reported lower physical health status and were more likely to struggle with auditory and musculoskeletal problems.

Continued research in this area will not only generate much-needed knowledge about long-term healthcare issues and needs for OI patients, but also help clinicians improve their current treatment methodologies to anticipate these concerns ahead of time, if possible.

“The number of responses to our first survey demonstrated that patients really want to be heard. When you give them tools and ask them to tell you about themselves in ways that they hope will change how you practice, they want to help,” says Dr. Tosi, “because everyone wants to grow old well.”

At the end of August, Dr. Tosi will present her research at the 13th International Conference on Osteogenesis Imperfecta in Oslo, Norway. She also presented her research at the 8th International Conference on Children’s Bone Health as well as at the 17th Annual OI Foundation Scientific Meeting.

Now taking part in designing and executing a national natural history study of patients with OI, Dr. Tosi plans to lead the charge for incorporating and implementing PROMIS® tools into the study. “Once we improve our tools, we will have the ability to query individuals from Alaska to Timbuktu, and provide a far more comprehensive understanding of this very complex and multi-faceted disorder. Harnessing the power of the internet and engaging the patient in delineating their disorder as well as their response to treatment offer a giant step forward in caring for individuals with rare diseases,” she says.