Category: Research

In 2021, the Osteogenesis Imperfecta Foundation (OIF), the Osteogenesis Imperfecta Federation Europe (OIFE), and Mereo BioPharma collaborated closely to launch the IMPACT Survey. The goal of this project was to capture and quantify the real impact OI has on the lives of people with OI, their families, and caregivers. We were thrilled that more than 2,200 OI community members from 66 countries participated in this survey!

To date it is the largest global study examining the multifaceted impact of osteogenesis imperfecta (OI) on individuals’ lives. Its findings have been disseminated through various publications, offering valuable insights into the humanistic, economic, and clinical challenges faced by those with OI.

The most recent article to be published based off the survey is titled The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults and presents data on the impact of OI on the quality of life of adults with OI and explores potential drivers of this impact.

Some of the key findings were:

• The areas of life most commonly impacted by OI were job types (74%), social life (72%), and types of leisure activities respondents could pursue (84%).
• Severe self-reported OI and higher fracture frequency were consistently identified as drivers of OI’s impact on quality of life and OI-linked worries and concerns.
• 66% of adults reported that OI impacts their mental health. Mental health problems were commonly reported by those who experienced any fractures (73%) or vertebral fractures (84%) in the past 12 months.
• Over half of adults worried a lot about mobility loss (53%), future fractures (48%), and aging (48%) with OI.

We want to take a moment to thank everyone who participated in this survey. Your input has helped bring attention to these important issues and share the findings with the wider community. As you know, supporting research is an important part of the OI Foundation’s mission and we need volunteers to help advance the scientific understanding of OI so that more and better treatments can be made available to the OI community.

Learn more at https://tinyurl.com/impactadultsOI.

Michael Geisman Fellowship Grant

The Michael Geisman Fellowship Grant program awards funding to post-doctoral trainees who are currently working on projects with clear relevance to osteogenesis imperfecta (OI), or who have projects that will enable them to develop expertise in OI research.

Applicant Requirements:

• Applicant must hold an MD, DDS, DO, or PhD, and be appointed at the level of a post-doctoral trainee, or equivalent, within an academic institution.
• Applicant should have completed their Ph.D. or clinical training within the past five (5) years.

Fellowship Guidelines:

• Michael Geisman Fellowship awards provide up to $50,000 per year. It is the intention of the OI Foundation that grant monies be used to fund actual costs related to the research being performed including Fellow salary, fringe benefits, and supplies.
• Fellowship awards are for one year; a second year of funding may be approved based upon satisfactory performance during the first year of funding.
• Research must be done under the supervision of mentor with training and experience in osteogenesis imperfecta research or research in a related field.

How to Apply:

1. Complete application
2. Mentor of applicant must submit a copy of his/her biosketch and a letter of recommendation on behalf of the trainee, which also confirms that the mentor will supervise the trainee’s research.
3. Applications require two additional letters of recommendation from scientists or clinicians who can comment upon the applicant’s training, ability, and potential to develop expertise in OI research.
4. Submit application, reference letters, and mentor biosketch as PDF documents to bonelink@oif.org NO LATER THAN October 21, 2024.

If you have any questions, please contact  bonelink@oif.org.

The application cycle is now closed

NEW! Francis Glorieux Research Fellowship Grant

New this year, the Canadian OI Society (COIS) is proud to announce the Francis Glorieux Research Fellowship for Medical Research. Funded by the COIS, this Research Fellowship honors the lifetime work and achievements of Dr Francis Glorieux, a current member of the OI Foundation’s Medical Advisory Council. Dr. Glorieux served as Chair of the OIF’s Medical Advisory Council from 2009-2024. His groundbreaking research into the treatment and care of OI patients and his commitment to the global community is world renowned. This Fellowship provides an opportunity for medical researchers to continue Dr. Glorieux’s legacy by making important and far-reaching contributions to OI research and the OI community.

The grant awards $75,000 CAD per year to post-doctoral trainees who are currently working on projects with clear relevance to osteogenesis imperfecta (OI), or who have projects that will enable them to develop expertise in OI research. Applications are due October 21, 2024. Special consideration will be given to Canadian applications.

Applicant Requirements:

• Applicant must hold an MD, DDS, DO, or PhD, and be appointed at the level of a post-doctoral trainee, or equivalent, within an academic institution.
• Applicants should have completed their Ph.D. or clinical training within the past five (5) years.

Fellowship Guidelines:

• Francis Glorieux Research Fellowship awards provide up to $75,000 CAD per year. It is the intention of the Canadian OI Society (COIS) that grant monies be used to fund actual costs related to the research being performed including Fellow salary, fringe benefits, and supplies.
• Fellowship awards are for one year; a second year of funding may be approved based upon satisfactory performance during the first year of funding.
• Research must be done under the supervision of mentor with training and experience in osteogenesis imperfecta research or research in a related field.
• Special consideration will be given to Canadian applications.

How to Apply:

1. Complete the application. Applications are available in French and English.
2. The mentor of applicant must submit a copy of his/her biosketch and a letter of recommendation on behalf of the trainee, which also confirms that the mentor will supervise the trainee’s research.
3. Applications require two additional letters of recommendation from scientists or clinicians who can comment upon the applicant’s training, ability, and potential to develop expertise in OI research.
4. Submit application, reference letters, and mentor biosketch as PDF documents to bonelink@oif.org NO LATER THAN OCTOBER 21, 2024. *Deadline Extended to November 4, 2024

The application cycle is now closed

We are pleased to share exciting news from our partners at Ultragenyx. They have completed enrollment for their Phase 2/3 Orbit and Phase 3 Cosmic studies. These studies evaluate setrusumab (UX143) in both pediatric and young adult patients with osteogenesis imperfecta (OI).

“We would like to thank the OI community for its support, trust and participation as we complete this important step in the advancement of the setrusumab program,” said Eric Crombez, M.D., chief medical officer at Ultragenyx.

For more information about the studies and what this development means for our community, please visit https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-completion-enrollment-phase-3-orbit-and

The OI Foundation recently shared an announcement from Ultragenyx which shared Interim data from the Phase 2 portion of their Orbit study. This data showed that treatment with setrusumab reduced incidence of fractures in patients with OI by 67% following at least 6 months of treatment and demonstrated improvements in lumbar spine bone mineral density (BMD). CLICK HERE TO READ THE FULL PRESS RELEASE

Ultragenyx is now enrolling participants for the Phase III of this trial. The trials are open to children with Types I, III, and IV OI and have sites around the country.

Dr. Alison Skrinar (Ultragenyx) joined OIF Board Member Dr. Michelle Fynan to discuss setrusumab and the clinical trial process in a video for the OI community. Please take a minute to watch this video at https://www.youtube.com/watch?v=kUYp3REcO2g

Participate in the OI Wellbeing Study

Baylor College of Medicine is conducting this OI Wellbeing Study as a part of the Brittle Bone Disorders Consortium which aims to improve the lives of people with Osteogenesis Imperfecta.
This study addresses an under-researched aspect of health critical to the wellbeing of the OI community, namely psychological health. Participants will meet with a researcher over a secure teleconference platform for about 1 hour and complete a series of questionnaires about mental health, physical health, quality of life, social wellbeing, and experience with health care professionals. Participants are compensated $50.

This information may help develop psychological interventions personalized for people with OI. Please share information about this study with any adult with OI that you believe may be interested in participating.

If you have any questions about the study or are considering participating, please email OIWellbeing@bcm.edu or call (713) 798-0117.

From the BBDC: Osteogenesis Imperfecta Over Time: What We’re Learning from a Natural History Study
To learn more about the natural history of individuals with osteogenesis imperfecta (OI), the Brittle Bone Disorders Consortium (BBDC) is conducting a “Longitudinal Study of Osteogenesis Imperfecta.” The team is performing a long-term follow-up of a large group of people with OI to investigate vertebral compression fractures of the spine, scoliosis (curvature of the spine), dental health, and more.

Click here to learn more!

OI Research Update:

Abnormal lung function in osteogenesis imperfecta due to both intrinsic and extrinsic causes
Gochuico et al. (2023) J Med Genet May 16:jmg-2022-109009. Doi:10.1136/jmg-2022-109009

Lung disease is the major cause of illness and death in individuals with osteogenesis imperfecta (OI), a collagen-related bone fragility disorder. Previously, external factors such as scoliosis and chest wall deformities were considered responsible for abnormal lung function in OI. Prior data from the NIH USA OI Research Program lead by Dr Joan Marini showed that pulmonary function declined with age even in children who did not have scoliosis, suggesting an intrinsic component for OI lung disease (Thiele et al, Human Mol Genet. (2012) 21(16):3535-45), that is, a defect directly in the respiratory system itself.

In this investigation, we studied 37 children and young adults with several types of OI, 29 of whom have structural mutations in type I collagen. Type I collagen is a component of lung parenchyma as well as the major matrix protein of bone. Study participants underwent lung function tests, X-Rays and CTs of lung tissue. Most patients had restrictive lung disease and decreased gas exchange, independent of scoliosis. Analysis of chest scans and breathing tests showed thickening of the walls of small airways and lung tissue abnormalities.  We conclude that OI also causes intrinsic lung disease that negatively impacts Quality of Life (QOL) in OI. Further study of intrinsic lung abnormalities may lead to improved treatment options and improve QOL.

Click here to view the full article.