Somewhere To Go

In October 2023, the OI Foundation hosted a conference titled, Somewhere to Go for Adults with Childhood-Onset Rare Diseases: A Conversation About How We Can Fill Gaps in Care, to bring together various stakeholders to explore the transition of care and gaps in adult care within the childhood-onset rare disease communities. Through collaboration among the patients, caregivers, clinicians, and health researchers in a wide variety of fields, we aimed to identify common themes that transcend the specifics of individual rare diseases, recognizing it is not feasible or practical to have separate strategies for each disease. These foundational elements are essential to the longer-term tasks of devising solutions, establishing the metrics necessary to evaluate their actual performance, and understanding the conditions and incentives that facilitate the adoption of adult care models that perform well for adult patients with childhood-onset rare diseases.

Click here to view the summary document of that two-day working meeting which presents the findings, work products, and recommendations that resulted.

Update from Dr. Alison Skrinar on the Ultragenyx trials, Orbit and Cosmic

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

Participate in the OI Wellbeing Study

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 or call (713) 798-0117.

OI Study: Evidera

Evidera, a company specialized in patient-centered outcomes research, are currently looking for individuals living with osteogenesis imperfecta (OI).

Please take a moment to read a message from Evidera below:

We are conducting a study to understand patients’ experiences of living with osteogenesis imperfecta (OI) and how symptoms, such as pain and fatigue, affect their everyday lives. This information will inform future clinical trials to ensure relevant patient experiences are captured.  The study does not involve treatments; we are only interested in opinions.

Those interested will be invited to take part in two 60 minute online or telephone qualitative interviews. We very much value and respect your time, so you will be compensated with a total amount of $250 ($125 per interview). Compensation will be placed onto an e-gift card.

If you have been diagnosed with OI or are the parent/caregiver of a child (8-17 years old) with OI and would like more information about the study, please contact Katherine Kirk via or +1 301 312 5386.

Exciting new data update from Ultragenyx!

Today, Ultragenyx announced Interim data from the Phase 2 portion of the Orbit study, which 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).
To learn more about Ultragenyx research, visit or reach out via email,

What We’re Learning from a Natural History Study

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!

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 NO LATER THAN October 23, 2023.

If you have any questions, please contact Stacie Connors at


OI Research Update: Abnormal lung function in OI

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.

OI Research Update from Ultragenyx

Ultragenyx Pharmaceutical Inc. and Mereo BioPharma Group today announced data from the dose-selection Phase 2 portion of the Phase 2/3 Orbit study, showing that setrusumab significantly  increased bone production in OI-affected patients after only 3 months.

Click here to read the full article.

On June 5th, the Foundation received the following communication from Ultragenyx regarding the interim data of their Phase 2 study, Orbit.

Dear OI Advocates,

As our trusted partner in OI, we are excited to share with you an important update about the Orbit study, NCT05125809, on behalf of the Ultragenyx OI study team. As you may be aware, Ultragenyx is sponsoring Orbit, a global study to determine the safety and efficacy of setrusumab, UX143, in the treatment of OI. Setrusumab is a fully human monoclonal antibody that inhibits sclerostin. Sclerostin is a protein that causes decreased bone formation and increased bone resorption. By inhibiting sclerostin, the goal of setrusumab is to increase bone formation, strength and bone mineral density and, to a lesser extent, decrease bone resorption.

Orbit is a randomized double-blind placebo-controlled Phase 2/3 study in OI types I, III, IV patients aged 5 to <26 (N=219). Enrollment in the Phase 2 portion of the study was completed in February with 24 patients. Patients received setrusumab at one of two doses to determine the optimal dosing strategy for Phase 3. We are pleased to announce the interim results from Phase 2 portion of the Orbit study. Data from the pediatric cohort suggests a substantial benefit on bone formation within 3 months on setrusumab.

Across all patients evaluated, setrusumab significantly increased levels of serum P1NP, a marker of bone formation, and a significant and rapid bone-building effect in the lumbar spine. There have been no treatment-related serious adverse events observed in the study. Reported adverse events have been consistent with the anticipated safety profile for setrusumab based on previous trial and include infusion-related reactions, headache, and sinusitis. There were no safety-related differences observed between dosing groups or age groups. “It’s encouraging to see similar lumbar spine bone mineral density results at 3 months in children to what we saw in adults at 12 months using the same dose levels,” said Eric Crombez, M.D., chief medical officer at Ultragenyx. “We believe it suggests that growing bones are more dynamic, and we anticipate a greater effect on bone formation and strength in the younger subjects with immature skeletons.”

Having this data allows Ultragenyx to move forward to the pivotal Phase 3 portion of the global study. Phase 3 will include approximately 195 participants, randomized 2:1 to receive setrusumab or placebo. We are grateful to the patients, parents, and caregivers who contributed to this study. We couldn’t do any of this work without the support from the OI community! To learn more about Patient Advocacy at Ultragenyx and our commitment to the OI community, including the upcoming Phase 3 trial, please visit or reach out via

Thank you all for your support and trust in this work.

Jenny McCue
Jenny McCue, Executive Director OI patient advocacy and engagement

OI Studies (Currently Recruiting) 

Participate in OI Research!

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.  The OI Foundation shares information about current research and studies through emails to those who are signed up for the OI Registry. To receive these updates and help move OI research forward, please join the OI Registry!

If at any point you have questions, please contact the OIF at or 301-947-0083.

OI Studies (Currently Recruiting) 

Disclaimer: The OI Foundation is not involved in the design or management of this research, and as such, is neither endorsing nor supporting these studies. The mission of the OIF is to keep the OI community informed of all relevant studies. This information is made available as a service to the OI community.

7707: Use of clear aligners for the treatment of dental malocclusion in individuals with Osteogenesis Imperfecta Types III and IV (Brittle Bone Disorders Consortium)

 The purpose of this study is to determine if it is safe to use Invisalign clear aligners in correcting the misalignment of teeth in people with OI. Clear aligners are transparent plastic trays that are designed to fit over your teeth.

You may be eligible to participate if you:

  • are between ages 12 – 40
  • have OI type III or IV
  • have had no prior orthodontic treatment

Please find more information here.

7708: Cardiopulmonary Outcomes in Osteogenesis Imperfecta

The purpose of this study is to understand the cause of the restrictive pulmonary physiology in the OI population. Respiratory insufficiency is the leading cause of death in patients with OI.

You may be eligible to participate if you:

  • are 18 years or older
  • have been diagnosed with OI clinically and/or genetically
  • have no cardiopulmonary comorbidities that affect lung compliance

Please find more information here.

Ultragenyx ORBIT Study

The purpose of this study is to investigate the efficacy and safety of setrusumab in pediatric and young adult patients with OI Types I, III, or IV.

Inclusion criteria:

  • 5-25 years
  • Confirmed diagnosis of OI Types I, III, or IV
  • Are willing to NOT receive bisphosphonate therapy during the study.
  • Had at least one fracture in the past year or at least two fractures in the past 2 years.

Learn more about this study here. To find out more about Ultragenyx studies, click here.

Ultragenyx COSMIC Study

 The purpose of this study is to evaluate the effect of setrusumab vs intravenous bisphosphonates (IV-BP) on reduction in fracture rate, including morphometric vertebral fractures in pediatric participants.

Inclusion criteria:

  • 2-4 years
  • Clinical diagnosis of OI Types I, III, or IV confirmed by identification of genetic mutation in COL1A1 or COL1A2
  • Any prior exposure to, or currently receiving, IV-bisphosphonate therapy for treatment of OI

Learn more about this study here. Please reach out to if you are interested in participating.

Poise 1 (Sanofi)

The purpose of this study is to deepen the scientific understanding of OI and the anti-TGFb antibody SAR439459, as we prepare for future long-term studies. The study also includes digital, non-invasive strategies to better understand how OI patients move and are active throughout the day. All participants will be reimbursed for travel and accommodations involved in visiting study sites during the study duration, including airfare for those who are not within driving distance of a study site.

Inclusion criteria:

  • Male or female between 18 and 65 years old, with the exception of postmenopausal women
  • Confirmed diagnosis of Osteogenesis Imperfecta Types I or IV, including documented genetic mutation in the COL1A1 or COL1A2 genes. Sanofi will provide OI-specific genotyping if it is not already in the patient’s medical history.
  • Have experienced ≥ 2 bone fractures since the age of 18 OR at least 1 bone fracture in the last 10 years.

To learn more about this study, please review the study brochure.

Updates from the OIF

OIF Scientific Meeting Recap

Each year during the OI Foundation’s annual Scientific Meeting, leading scientists and medical professionals gather to share their research on osteogenesis imperfecta (OI). Dr. Frank Rauch (OIF Medical Advisory Council Member) discussed the 2023 meeting and some of the major takeaways from this year’s event in a Research Update video.

Results from the Pain and OI Survey

In the past few years, researchers have been putting more focus on understanding how pain impacts people with OI. While pain has a large impact on people’s lives, it is unclear how it specifically impacts aspects of a person’s well-being and health.

The Pain and OI Project, a group co-led by the OI Foundation and the Osteogenesis Imperfecta Federation of Europe (OIFE) created a survey where all adults with OI could share information about their pain and how it impacted them. This group consists of international OI advocacy leaders, researchers, and medical professionals from 12 different countries. This survey gives a snapshot of a group of adults with OI, and may help contextualize an individual’s experience and suggest future areas of study for more research.

Below are some major initial findings from the survey, and the OIF hopes to present a more thorough analysis later.

  1. Many people with OI appear to experience lots of chronic pain.
  2. Back pain is common for people who completed the survey.
  3. Pain impacts many parts of people’s lives including career and social life decisions.

What’s next?   

Pain and OI, like our understanding of OI itself, is complex. We hope that the results from this survey can help contextualize the pain that OI community members feel, and that it can help drive further research.

In-depth survey results will be shared in the June issue of the OIF’s Breakthrough newsletter.

Learn more about the Pain and OI project at

OI Foundation Resources: 

Current OI Studies and Publications

The OI Foundation’s Current OI Studies and Publications page features a list of OI studies that are currently recruiting, as well as a collection of published OI research.

What You Need to Know about Clinical Trials 

The OI Foundation’s What You Need to Know about Clinical Trials factsheet defines major terms and stages of clinical trials, explains the role of the FDA, and answers common questions. This and other OIF factsheets are available on the OIF website’s Information Center at

Current State of OI Research Video Series 
The OI Foundation’s Current State of OI Research video series was created to highlight and describe the work of the Brittle Bone Disorders Consortium (BBDC), a multicenter initiative that focuses on understanding and providing better treatment options for osteogenesis imperfecta. To watch recordings of these sessions, click here.