Supporting research is an important part of the OI Foundation’s mission. Often, the success of clinical studies of a rare disorder like osteogenesis imperfecta (OI) depends on getting enough people to participate in the study so the results are meaningful. People who are interested in participating in a clinical trial are encouraged to review the fact sheet What You Need to Know about Clinical Studies. Additional information about research studies can be found on www.clinicaltrials.gov.
Join the OI Registry
Individuals with OI (18 and older) and parents of children with OI are encouraged to join the OI Registry. The OI Registry is a database of individuals with OI who are interested in participating in OI research. Once you are enrolled, you will begin to receive information on upcoming studies and online surveys about OI. Your participation in these studies helps move OI research forward.
If you have any questions, please contact the OI Foundation at firstname.lastname@example.org or (844)889-7579.
Click here to join the OI Registry.
The following studies are currently enrolling participants.
See the contact person for each study for detailed information about who is eligible to participate and other study information.
Brittle Bone Disorders Consortium Studies
- 7701: Longitudinal Study of OI
The Linked Clinical Research Centers program (LCRC), established by the OI Foundation and the Children’s Brittle Bone Foundation started a major longitudinal or natural history study of OI. The Longitudinal Study of Osteogenesis Imperfecta has been extended and expanded through the Brittle Bone Disorders Consortium. The purpose of this study is to collect information about the experiences of people with all types of OI across the entire life-span. Five centers in the United States and one in Canada are enrolling children and adults into this study. People of all ages and all types of OI are needed. Participants in the original study are encouraged to re-enroll at the site they had been using or at one of the newly added sites. If you were in the first study and have not been contacted by the study coordinator, please call them or call the OI Foundation. Study participants will receive an annual physical and various diagnostic studies.
- 7702: Osteogenesis Imperfecta (OI) Quality of Life Survey
The purpose of this study is to identify questions about the quality of life for people with Osteogenesis Imperfecta (OI). Quality of life is defined as an individual’s opinion of the quality of his or her daily life and includes emotional, social, physical environment and health related dimensions. It is important to see if the standard questions asking about quality of life are appropriate for people with OI or if a new set of questions should be created for the OI community.
- 7703: Cross-linked Collagen Peptides as a Urinary Biomarker of OI Pathobiology
The purpose of this laboratory study is to develop a non-invasive test to determine OI subtype. The study investigators will collect urine samples and look at various OI biomarkers in urine. There will be a total of 25 people with OI and 5 people without OI in this study. People with OI who agree to be in the study will be asked to provide a urine sample at their yearly longitudinal study of OI study visit. People without OI (controls) will be asked to provide a one time urine sample
- 7704: Dental Malocclusion and Craniofacial Development in OI
Study investigators will look at dental health in people with OI. The purpose of this study is to describe teeth misalignment and head and neck defects in individuals with moderate to severe osteogenesis imperfecta (OI). Investigators will look at some of your results from the Longitudinal Study of OI to complete the study evaluations. Several X-rays will be performed for this study.
- 7705: Pregnancy in Osteogenesis Imperfecta (OI) Registry
This is a self-report survey that will review pregnancy outcomes (maternal and fetal). Measures of pregnancy outcome will include 1) length of gestation, 2) mode of delivery, 3) neonatal outcomes including birth weight and length, 4) history of back pain or hip pain and or fractures during pregnancy or postpartum 5) number of maternal hospital admissions 6) calcium and vitamin D intake, 7) neonatal complications and 8) OI status in the fetus. This survey will take approximately 20 minutes to complete. One survey will be completed for each gestation (pregnancy).
- 7706: Multicenter study to evaluate safety of fresolimumab treatment in adults with moderate-to-severe Osteogenesis Imperfecta
The purpose of this study is to see if fresolimumab is safe as a treatment for OI. We will check the safety of a single dose of fresolimumab in the 1ststage of the study. We will check the safety of multiple doses of fresolimumab in the 2nd stage of the study. The Researchers will look at the effect of the two doses of fresolimumab in Stage 1on indicators of bone change and see the dose that shows the greatest reduction in bone change indicators compared to no treatment. This dose will be chosen for the repeat dose studies. If there were no big changes between the bone change indicators with either dose, the 4 mg/kg dose will be chosen for the repeat dose study.
For more information about current studies through the Brittle Bones Disorders Consortium (BBDC), visit the BBDC webpage.
Additional OI Study Listings
MR1011C: Modification of the OIQoL-P
Clinical Outcomes Solutions, a health research consultancy, is conducting research into Brittle Bone Disease/OI on behalf of our sponsor, Mereo Biopharma, a pharmaceutical company that is studying OI. The purpose of this research is to better understand, from children and caregivers of children with OI, what their current experience of OI is and how the disease impacts their lives.
Participants aged 5-11 and their parent/caregiver/carer will be invited to take part in a face to face 60-minute in-home interview. Both the child and the caregiver will be interviewed separately. Children may be asked to complete an additional activity such as drawing a picture or using modeling clay. Participants aged 12-17 will be invited to take part in a 60-minute phone interview.
Child participants will receive $50 and parent/caregiver/carers will receive $150 for completion of the interviews. This research is confidential. Any contact information you provide will only be used for the purposes of compensation and scheduling the interviews if you take part. To see if you are eligible to participate, or to find out more about this study, please contact:
(posted November 12, 2019)
Hospital for Special Surgery Research Study on Cardiopulmonary Outcomes in OI
Hospital for Special Surgery (HSS) is sponsoring a pilot study in which researchers are exploring respiratory function and its relation to quality of life, type of OI, presence of scoliosis/chest wall deformity, and other factors such as age or co-existing co-morbidities. We hope that you will take the time to complete the St. George’s Respiratory Questionnaire and Additional Questions so that we can learn more about the relationship between respiratory function and quality of life in adults with OI. Individuals 18 years of age or older who have a diagnosis of OI are eligible for this single-visit research study, which aims to enroll 50 participants. If you have any questions about the study or your eligibility, please reach out to Elizabeth Yonko. Your completion of the questionnaires will not impact your participation in the pilot study.
HSS is committed to protecting the privacy of your information, and wants you to understand how information you provide will be used and protected. All the information you provide in the questionnaires will be shared only with others who are participating in or sponsoring this study, or who have administrative or regulatory oversight of this study. Everyone who sees your information has agreed to protect it. Published study results will not contain information that could identify you. Whenever possible, all information that identifies you will be removed before your information is shared. If you do not agree to participate in this study, it will not affect the health care you receive. You may revoke your permission to use your information in this study by writing to the study contact. If you have any questions about how your information will be used and protected, please contact Elizabeth Yonko (see below).
Click Here to complete the questionnaire
If you have any interest in enrolling in the pilot research study, Hospital for Special Surgery in New York City is actively recruiting study participants. Contact information for the study site is listed below.
Hospital for Special Surgery
535 East 70th Street
Research Institute, 4th Floor
New York, NY 10021
Antisclerostin Therapy Drug Setrusumab (previously called BPS804)
Mereo BioPharma is sponsoring a multicenter clinical trial to study the effects of anti-sclerostin therapy drug setrusumab (previously called BPS804) on the strength and flexibility of bone in OI. Multiple sites in the United States, Canada and several other countries are now recruiting study participants. Adults between 18 and 75 who have a diagnosis of OI Types I, III, or IV are eligible for this 1 year clinical research study, which aims to enroll up to 140 patients.
Lodging and travel for the research participant and one travel companion are provided through the study. Visit their Clinical Trials Website or their Study Website (www.asteroidstudy.com) to learn more, find your nearest study location, and register your interest in participation. If you have any additional questions, please email AsteroidStudy@mereobiopharma.com or email@example.com. Their study contacts will be able to tell you more about the clinical research study, review eligibility criteria, and find a site near you. (Posted May 2017, updated November 2019)
Denosumab Treatment in Children with OI
Amgen is sponsoring a multicenter clinical trial to study the safety and efficacy of the investigational drug Denosumab on bone mineral and fracture occurrence in children who have OI. Currently, 34 sites in the United States and multiple other countries are participating in this clinical research study. Children ages 7-17 who have a diagnosis of OI Type I through IV are eligible for this 3 year clinical research study. In January 2018 Amgen anticipates opening the study to eligible children 2-6 years of age.
Visit their Clinical Trials Website to learn more and view a complete list of study locations. If you have any additional questions, please contact the Amgen Call Center at (866) 572-6436. Their study contacts will be able to tell you more about the clinical research study, review eligibility criteria, and find a site near you. (Posted July 2015, updated November 2019)
Ongoing Studies at the National Institutes of Health (NIH)
The osteogenesis imperfecta program at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) enrolls children with types III and IV OI. Under the direction of Dr. Joan Marini, this program has over 25 years’ experience providing comprehensive multidisciplinary evaluations and care for children with OI. Pediatric participants are offered follow-up into young adulthood. Four protocols are available.
Screening Protocol: Children are first admitted under this protocol for diagnostic and screening evaluations. Testing may include: skin biopsy, blood draw, X-rays or bone density scan (DEXA).
Natural History Protocol: Provides comprehensive evaluation and monitoring. Includes genetics, rehabilitation, physical therapy, developmental, bone and spine X-rays, bone density scans (DEXA), dental, hearing, pulmonary, cardiac and neurologic examination.
Growth Protocol: This protocol evaluates the effectiveness of growth hormone on improving growth and bone quality in children with OI. All children complete a year of pretreatment measurements and testing before beginning one year of growth hormone injections. After the first year of treatment, children who respond to growth hormone may continue treatment for additional years.
Participation in NIH studies is free of charge. To learn more contact Dr. Joan Marini. Phone Number: 301-496-0741; Email: firstname.lastname@example.org
Participating in a Study
Understanding the Medical Research Process
There are different types of medical research:
- A case study is a report of a single case: of how one doctor treated one patient.
- An observational study is a report of the investigator’s observations about how a group of patients responded to a course of treatment. This kind of study can also be done to follow the natural history of a disorder like OI.
- Clinical trials compare the ways different groups of patients respond to different courses of treatment. A controlled clinical trial compares patients receiving a treatment with patients receiving no treatment (controls). It assesses how much of an effect the treatment has.
For a detailed discussion of the medical research process see the OI Foundation fact sheet Medical Research Clinical Trials.
- The web site http://www.clinicaltrials.gov/ is a searchable web site with extensive information about clinical trials in general as well as links to the trials themselves.
- The OI Foundation periodically provides information about studies that are looking for participants who have OI. The Foundation’s Medical Advisory Council reviews all studies before they are advertised.
- The OI Registry announces studies that have been approved by its board to all eligible members and provides information about how to contact the investigator.
Points to Consider
- OI is a rare condition and there is still a lot to learn about its causes, its symptoms across a lifetime, and best treatments.
- Many people who participate in clinical trials experience a considerable sense of satisfaction in knowing that they are helping advance medical understanding and treatments for themselves and others.
- If you are thinking about participating in a clinical study it is important to get answers to all of your questions. Here are some sample questions.
- What is the purpose of the study?
- Who is going to be in the study?
- Why do researchers believe the experimental treatment being tested may be effective? Has it been tested before?
- What kinds of tests and experimental treatments are involved?
- How do the possible risks, side effects, and benefits in the study compare with my current treatment? How might this trial affect my daily life?
- How long will the trial last?
- Will hospitalization be required?
- Who will pay for the experimental treatment?
- Will I be reimbursed for other expenses?
- What type of long-term follow-up care is part of this study?
- How will I know that the experimental treatment is working?
- Will results of the trials be provided to me?
- Who will be in charge of my care?