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Dr. Lauri Tosi examines a patient

Building patient-centered outcomes research in osteogenesis imperfecta

Dr. Lauri Tosi examines a patient

Children’s orthpaedic 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 orthpaedic 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.