OIF Patient-led Listening Session at the U.S. Food and Drug Administration (FDA)


Objective of session
The objectives of the session were to discuss with the U.S. Food and Drug Administration (FDA) the impactful symptoms of osteogenesis imperfecta (OI), the experience of living with OI, as well as the impacts that current treatments have on daily life. Lastly, the group wanted to discuss the importance of including endpoints other than fracture in future research.

Summary of topics discussed

Symptoms Important to People with OI

OIF Participants at the FDA Listening Session

Fractures: Fracturing bones are one of the hallmarks of OI. Although it was the goal of the group to encourage future research to include other endpoints in research, fracture is still important. Fractures cause people with OI to miss time from their lives and cause pain.

  • Pain Management: People with OI experience both acute and chronic pain. Our group expressed the importance of finding treatments that can address both kinds of pain.
  • Mobility: The group emphasized that people with OI can have a wide range of mobility needs day-to-day. They also identified that after a fracture, it is important to regain mobility as quickly as possible so that they can return to work, to taking care of their families, and to be able to get back to their normal routine.
  • Early Mortality: Our group wanted to emphasize that we are losing members of our community early. We also addressed concern for lack of research and treatment options for adults that currently exist.
  • Pulmonary Issues: The primary respiratory problem for people with OI is loss of lung capacity, but can also include problems such as sleep apnea. We emphasized the need for more research in the area of respiratory issues and OI.
  • Cardiovascular Issues: The cardiovascular effects of OI are currently severely understudied in research, but are essential. The group emphasized that cardiovascular issues need to be studied to lower the early mortality rate.
  • Dental Issues: Brittle teeth are seen in 50% of people who have OI. Dental care was extremely important to the group. The cost of dental care alone is a huge burden to our community, let alone trying to find research to inform dental care. The group also identified the need for increased research regarding dental implants for people with OI.
  • Hearing Loss: Hearing loss may begin in the early 20’s and by middle age in more than 50% of people with OI. Our group discussed how the anxiety of not knowing if someone will lose their hearing is important to them.
  • Anxiety and Mental Health: having severe fractures or not knowing when the next fracture will occur can negatively affect people with OI. Along with fracturing, healing time spent away from friends and family can have negative mental health effects.

Life Events Important to People with OI

  • Having healthy pregnancies.
  • Living an active life with OI.
  • Having access to aids for school and sports.
  • Healing time to decrease so that people may return to work and taking care of their families faster.
  • Having access to clinicians with expertise in OI.
  • Increasing expertise in the treatment of Dentinogenesis Imperfecta to address dental issues.

Research Endpoint Selection

  • It can be difficult to make decisions clinically based on the variance of OI.
  • Future research should consider a variety of endpoints, not just fracture, to fully address the multi-system needs of people with OI.
  • The standard of care has evolved greatly with bisphosphonates and orthopedic rods, but there is more work to do.
  • More research needs to be conducted for adults with OI. It will be critical moving forward that more longitudinal information about people with OI is collected so that the appropriate protocols can be developed.
  • The OI Foundation, in partnership with the Brittle Bones Disorders Consortium, is working on collecting data on the Natural History of OI.

Partner organization
The Osteogenesis Imperfecta Foundation (OI Foundation) worked directly with the FDA to prepare this meeting. The OI Foundation paid for the travel and accommodation of the community members that attended the meeting.

FDA divisions represented
Office of the Commissioner

  • Patient Affairs Staff (organizer)
  • Office of Clinical Policy and Programs
  • Office of Orphan Products Development

Center for Drug Evaluation and Research

  • Office of New Drugs
  • Office of New Drugs/ Office of Drug Evaluation III/ Division of Bone, Reproductive and Urologic Products
  • Office of Translational Sciences/ Office of Biostatistics/ Division of Biometrics II
  • Office of Translational Sciences/ Office of Biostatistics/ Division of Biometrics III

Center for Biologics Evaluation and Research

  • Office of the Center Director
  • Office of Tissues and Advanced Therapies / Division of Clinical Evaluation & Pharmacology/Toxicology
  • Office of Tissues and Advanced Therapies / Division of Clinical Evaluation & Pharmacology/Toxicology/ General Medicine Branch I

Patients represented
Out of the nine participants, seven were people with OI, three people were parents of a child with OI, two people were a spouse of someone with OI, and one who is a physician who sees children with OI.

Discussions in FDA Rare Disease Listening Sessions are informal. All opinions, recommendations, and proposals are unofficial and nonbinding on FDA and all other participants. This report reflects the Osteogenesis Imperfecta Foundation’s account of the perspectives of patients and caregivers who participated in the Rare Disease Listening Session with the FDA. To the extent possible, the terms used in this summary to describe specific manifestations of osteogenesis imperfecta, health effects and impacts, and treatment experiences, reflect those of the participants. This report is not meant to be representative of the views and experiences of the entire osteogenesis imperfeca patient population or any specific group of individuals or entities. There may be experiences that are not mentioned in this report.