Osteogenesis ImperfectaNCT02531087
Urinary Biomarkers of OI Pathobiology
An observational study of Osteogenesis Imperfecta, run by Baylor College of Medicine at 7 sites in 2 countries.
Trial summary
Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss, dental problems, pain and difficulty getting around. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Osteogenesis Imperfecta
- How many people
- 25 participants
- Where
- 7 sitesin 2 countries
- Study dates
- 17 Aug 2015to 31 Aug 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals with OI
Who may be able to join
- To be able to participate, you must:
- Be enrolled in The Longitudinal Study of OI (NTC #02432625) and have one of the following genetic mutations:
- glycine substitution mutations in COL1A1 or COL1A2
- haploinsufficient mutation in COL1A1 or COL1A2
- mutations in CRTAP, PPIB, or LEPRE1
- mutations in FKBP10 or SERPINH1
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- mutations in (SERPINF1, WNT1, or IFITM5)
- dominant negative glycine substitutions and haploinsufficient mutations in COL1A1, and COL1A2
- If you are serving as a control, you must not be related to an individual with OI.
Who cannot join
- You cannot participate if:
- You are unable to comply with the sample collection schedule.
- You are related to one of the OI subjects and would like to serve as a control subject.
- You have vertebral instrumentation or spinal deformities where we cannot assess lumbar spine aBMD.
- You have a history of recent fracture (< 3 months).
- You have serum creatinine above 1x upper limits of normal.
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- You have abnormal kidney function.
- You are using Minoxidil.
- You are unable to provide a urine sample readily.
Trial locations and contacts
7 sites in 2 countries.
7 sites in 2 countries
United States6 sites
Baylor College of Medicine
Houston, Texas, 77030
University of California Los Angeles
Los Angeles, California, 90095
Shriners Hospital for Children
Milwauke, Wisconsin, 53201
Hospital for Special Surgery
New York, New York, 10021
University of Nebraska Medical Center
Omaha, Nebraska, 68198
Oregon Health Science University
Portland, Oregon, 97239
About this study
Official title: Cross-Linked Collagen Peptides as a Urinary Biomarker of OI Pathobiology
Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss, dental problems, pain and difficulty getting around. Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. When people classify OI this way, there are more than 10 types of OI. The current laboratory testing to determine OI subtype involves the collection of blood and/or skin cells.
Read the detailed description
Osteogenesis Imperfecta (OI) is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. OI can range from very severe to very mild. Individuals with the most severe type of OI may die at birth. People with severe OI who survive may have bowed arms and legs, very short stature and be unable to walk. People with the mildest form of OI may only break bones occasionally and have normal height and lifespan. Breaks can occur in any bone, but are most common in the arms and legs. People with OI also often have problems with the spine. The spine problems include compression fractures and scoliosis (a curvature of the spine). DI is characterized by grey or brown teeth that may chip and wear down and break easily. In addition to weak teeth, the teeth in the upper jaw may not match up with the teeth in the lower jaw.
Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. In the past decade, it was discovered that in about 5% of people with OI it is in another gene. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. When people classify OI this way, there are more than 10 types of OI. The current laboratory testing to determine OI subtype involves the collection of blood and/or skin cells.
- Conditions
- Osteogenesis Imperfecta
- Medical subject headings
- Osteogenesis Imperfecta
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Individuals with OI | Individuals with OI with confirmed specific genetic mutations | |
| Controls/Unaffected | Individuals who do not have OI and who are not related to an individual with OI |
What is being measured
The primary outcome is the main question the study is designed to answer.
HP/LP Ratio
The endpoint will be to compare the HP/LP ratio in OI patients with collagen overmodification (dominant negative mutations in COL1A1, COL1A2, and biallelic mutations in CRTAP, LEPRE1, PPIB) to those without overmodification (FKBP10, SERPINH1, IFITM5, SERPINF1, WNT1, and haploinsufficient mutations in COL1A1 and COL1A2).
Measured: 5 Years
Secondary outcomes (1)
HP/LP ratio
The endpoint would be the HP/LP ratio in those with dominant negative type I collagen mutations vs. those with mutations in P3H complex.
Measured: 5 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Aug 2015 (estimated)
- Study start17 Aug 2015
- Primary completion31 Aug 2019
- Study completion31 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Osteogenesis ImperfectaStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Shriners Hospitals for Children, University of Nebraska, University of Washington
- Responsible party
- Principal investigator, Brendan Lee, Baylor College of Medicine
- Investigators
- Vernon Reid Sutton, M.D., Principal investigator, Baylor College of MedicineFrank Rauch, M.D., Principal investigator, Shriners Hospital for ChildrenDavid Eyre, Ph.D., Principal investigator, University of Washington
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02531087
- Sponsor's protocol ID
- 37358
- Status last verified
- Dec 2024
- First submitted
- 20 Aug 2015
- Last updated
- 1 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cross-Linked Collagen Peptides as a Urinary Biomarker of OI Pathobiology
- ClinicalTrials.gov ID
- NCT02531087
- Acronym / sponsor ID
- 37358
- Conditions
- Osteogenesis Imperfecta
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 25 participants (actual)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Collaborators
- Shriners Hospitals for Children, University of Nebraska, University of Washington
- Study start
- 17 Aug 2015 (actual)
- Primary completion
- 31 Aug 2019 (actual)
- Study completion
- 31 Aug 2026 (estimated)
- First posted
- 24 Aug 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Osteogenesis imperfecta (OI) is a rare inherited disorder that causes bones to break easily. Individuals with osteogenesis imperfecta break bones often and may have other problems, including hearing loss, dental problems, pain and difficulty getting around. Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. When people classify OI this way, there are more than 10 types of OI. The current laboratory testing to determine OI subtype involves the collection of blood and/or skin cells.
Detailed description
Osteogenesis Imperfecta (OI) is a rare disorder that causes bones to break easily. People with OI may have broken bones with little or no trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. It is seen in both genders and all races. OI can range from very severe to very mild. Individuals with the most severe type of OI may die at birth. People with severe OI who survive may have bowed arms and legs, very short stature and be unable to walk. People with the mildest form of OI may only break bones occasionally and have normal height and lifespan. Breaks can occur in any bone, but are most common in the arms and legs. People with OI also often have problems with the spine. The spine problems include compression fractures and scoliosis (a curvature of the spine). DI is characterized by grey or brown teeth that may chip and wear down and break easily. In addition to weak teeth, the teeth in the upper jaw may not match up with the teeth in the lower jaw.
Before the genetic cause of OI was known, OI was classified into four types. Each type was based upon the symptoms and severity of OI. In most people with OI, the cause is a change in one of the genes that makes a protein called type 1 collagen. In the past decade, it was discovered that in about 5% of people with OI it is in another gene. Some doctors now classify OI both on how severe it is as well as which gene is causing OI. When people classify OI this way, there are more than 10 types of OI. The current laboratory testing to determine OI subtype involves the collection of blood and/or skin cells.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Individuals with OI | – | –Individuals with OI with confirmed specific genetic mutations |
| Controls/Unaffected | – | –Individuals who do not have OI and who are not related to an individual with OI |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with OI
Key inclusion criteria (9 listed)
- To be able to participate, you must:
- Be enrolled in The Longitudinal Study of OI (NTC #02432625) and have one of the following genetic mutations:
- glycine substitution mutations in COL1A1 or COL1A2
- haploinsufficient mutation in COL1A1 or COL1A2
- mutations in CRTAP, PPIB, or LEPRE1
Key exclusion criteria (9 listed)
- You cannot participate if:
- You are unable to comply with the sample collection schedule.
- You are related to one of the OI subjects and would like to serve as a control subject.
- You have vertebral instrumentation or spinal deformities where we cannot assess lumbar spine aBMD.
- You have a history of recent fracture (< 3 months).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
HP/LP Ratio
Time frame: 5 Years
The endpoint will be to compare the HP/LP ratio in OI patients with collagen overmodification (dominant negative mutations in COL1A1, COL1A2, and biallelic mutations in CRTAP, LEPRE1, PPIB) to those without overmodification (FKBP10, SERPINH1, IFITM5, SERPINF1, WNT1, and haploinsufficient mutations in COL1A1 and COL1A2).
1 secondary outcome
HP/LP ratio
Time frame: 5 Years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2025.
- Individual participant dataSharing planned: No
Related trials for Osteogenesis Imperfecta
RecruitingPhase 2
Osteogenesis Imperfecta Trial of AGA2115 for ADUlts With COL1A1 and/or COL1A2 GeNetic Variations (IDUN)
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Active, not recruitingObservational study
Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
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GRACE II (General Retrospective Analysis of Commercial Experience With AGN1 LOEP)
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Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vernon Reid Sutton, M.D. principal investigator
Baylor College of Medicine
Frank Rauch, M.D. principal investigator
Shriners Hospital for Children
David Eyre, Ph.D. principal investigator
University of Washington
7 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Osteogenesis Imperfecta, run by Baylor College of Medicine at 7 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 1 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
HP/LP Ratio (time frame: 5 Years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Dec 2025.