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Laura Tosi

Technology bridges knowledge gaps in rare bone disease care

Laura Tosi

Dr. Tosi and colleagues presented on the NIH Rare Disease Day 2020 panel, Nontraditional Approaches to Improving Access for Rare Diseases.

As part of the global observance of Rare Disease Day in February, the NCATS and NIH Clinical Center hosted a special event to raise awareness about rare diseases, the people they affect and NIH research collaborations under way to address scientific challenges and advance new treatments.

This year, Children’s National Hospital orthopaedic surgeon Laura Tosi, M.D., took part in an afternoon panel, Nontraditional Approaches to Improving Access for Rare Diseases, where she outlined her work as the faculty chair of the Rare Bone Disease TeleECHO, a virtual meeting that allows care providers and experts to come together via the Zoom platform, discuss diagnosis of specific disorders and present cases for group input.

Dr. Tosi and the Rare Bone Disease Alliance have called Project ECHO Rare Bone Disease a game changer for care of these complex conditions. Rare bone disorders are only about 5% of all birth defects but include 461 skeletal disorders caused by 437 genes – making it difficult for any physician to see enough cases of any one disorder to correctly diagnose and treat it.

“Most doctors are like me, a pediatric orthopaedic surgeon. I need to know a lot of different rare diseases and it’s hard to keep everybody on the cutting edge,” Dr. Tosi says. “Even though we have found the genes for most of the disorders, the phenotypic overlaps, shortage of specialists and the multi-disciplinary needs of so many of the patients add to the challenges.”

So 7 months ago, Dr. Tosi joined together with colleagues at the Rare Bone Disease Alliance and the Osteogenesis Imperfecta Foundation to launch Project ECHO Rare Bone Disease. The now monthly telehealth meeting engages a distinguished faculty of experts from around the world and from across the spectrum of care for these rare bone disorders, including specialists in genetics, endocrinology, orthopaedics and others.

Project ECHO is a specific model for bridging distance and creating a network of professionals, with the goal of leveling the playing field for all by making vital information accessible to everyone, regardless of their location. In healthcare the model transcends traditional “telemedicine,” however. The program, launched from the University of New Mexico, self-describes itself as “telementoring, a guided practice where the participating clinician retains responsibility for the patient” but is able to discuss diagnosis and therapeutic recommendations with a set of esteemed faculty via a regular virtual meeting series.

In the case of the Rare Bone Disease TeleECHO, the ECHO’s faculty decided on two major foci for the curriculum. Half of the content is about how to make the right diagnosis and the other half shares the latest information about specific diseases. The sessions also offer free CME to attendees.

Dr. Tosi says that while finding cases to discuss can sometimes be challenging when it comes to rare bone diseases, she takes responsibility on herself to make sure the content is robust each month. So far the meetings have attracted between 40 and 90 participants per session – a great engagement rate for such a young teleECHO program.

“I believe ECHO advances knowledge of healthcare and democratizes it by offering universal accessibility across the globe,” Tosi notes.

The Rare Bone Disease Alliance, which consists of 12 organizations, experts and patient families working together, is now deciding what’s next for the Rare Bone Disease TeleECHO. They may develop disorder-specific ECHOs, are studying the frequency of the sessions and how best to improve participation for all sessions. The idea is to increase access to this expertise even further, as it could have critical impacts on patients worldwide living with these rare diseases.

In terms of key take-aways from the panel of experts at Rare Disease Day, the hope is that more disease groups might leverage this type of technology to connect people in nontraditional ways. Doing so has the potential to ensure that everyone with a rare disease receives the best support and care possible because their doctors have the knowledge they need when they need it.

Watch more sessions from the NIH’s Rare Disease Day 2020.

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.