This Just In: Patient Reported Experiences are Important for Research in Osteogenesis Imperfecta

What is osteogenesis imperfecta?

Osteogenesis imperfecta (OI) actually refers to a group of four distinct rare disorders- OI Type I, II, III, and IV. They’re all characterized by brittle bones which can break unexpectedly. Most types of OI are due to mutations in the COA1A1 or COL1A2 genes. Unfortunately, there is no cure for this condition. Instead, patients are treated according to their symptoms. They may receive physical therapy, hydrotherapy, braces, surgery to insert rods as bone support, or various other corrective surgeries. The goal is to help the patient maintain mobility while simultaneously strengthening their bones and muscles.

Each OI patient experiences the disease in a different way. Symptoms vary in severity and in frequency from patient to patient. Ultimately, this means each patient needs an individualized treatment regime.

Involving patients in research

In order to understand the best treatment for each individual living with OI, we have to understand how they are experiencing the disease day-to-day. The only way for the researchers to find this out, is to ask.

Realizing the vital role that patients play in research, a set of guidelines were created to help scientists gather patient data. The Patient-Reported Outcome Measurement Information System, or PROMIS, was created in 2004 by the National Institutes of Health. It’s goal was to standardize the way Patient Reported Outcomes (PRO) are measured and reported before they are used in research. Some of the PRO subjects it evaluated were emotional distress, sleep, global health, physical function, fatigue, social health, and pain. PROs are so important because they work to-

  • Increase patient satisfaction of care
  • Assess patient responses to treatment
  • Improve shared decision-making
  • Improve overall communication between patients and providers

As great as PROMIS sounds, researchers weren’t sure if this system was effective for measurement of PROs in patients with osteogenesis imperfecta. So they sought to find out.

The investigation

Researchers wanted to determine two things. First, they wanted to evaluate the construct validity of PROMIS for recording the most important experiences of OI patients. Second, they wanted to determine the feasibility of using a registry of OI patients to gather data.

“Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers.”

To complete this study, researchers utilized the contact registry maintained by the Brittle Bones Disease Consortium which is a part of the Rare Disease Clinical Research Network.


Ultimately, this study showed that PROMIS does have construct validity for OI. Additionally, it indicated that patient registries are a feasible way to collect PROs for OI. That said, the study did show some challenges associated with using an online survey to gather PROs. Some of these challenges were-
  • Lack of ethnic diversity
  • The submission of incomplete questionnaires
  • Underrepresentation of male patients
  • A lack of self-knowledge concerning type of OI

Researchers hope that this PRO research will ultimately lead to a new classification system for OI that groups like patients together. They may have similar disease experiences, clinical risks, or disease characteristics. By grouping these individuals together, researchers believe they will be able to find more effective treatments for more individuals faster.

Additionally, by implementing PROs as a part of routine care as opposed to an occasional investigation, we may be able to improve the overall quality of life of OI patients.

You can read the full study investigating PROMIS and PROs in OI here
You can read also read a summary of this study here.

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