Osteogenesis ImperfectaNCT05317637
Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
An observational study of Osteogenesis Imperfecta, run by Baylor College of Medicine at 3 sites in United States.
Trial summary
Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Osteogenesis Imperfecta
- How many people
- 18 participants
- Where
- 3 sitesUnited States
- Study dates
- 1 Aug 2022to 31 Dec 2027
- 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 18 years and older
- All sexes
- Adult, Older adult
Study population: Individuals with Osteogenesis Imperfecta
Who may be able to join
- Individuals who are able to give informed consent or have a legally authorized representative capable of giving consent on the subject's behalf
- Individuals ages 18 and older of all races and sexes
- Individuals who have been diagnosed with OI clinically and/or genetically
Who cannot join
- Individuals diagnosed with respiratory illness within 6 weeks of enrollment or undergoing diagnostic studies for an active illness.
- Individuals with other skeletal dysplasia or genetic diagnosis
- Individuals diagnosed with cardiopulmonary comorbidities that affect lung compliance
Trial locations and contacts
3 sites in 1 country.
United States3 sites
Kennedy Krieger Institute / Hugo W. Moser Research Institute
Baltimore, Maryland, 21205
University of California Los Angeles
Los Angeles, California, 90095
Hospital for Special Surgery
New York, New York, 10021
About this study
Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen.
Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.
Read the detailed description
This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Eighteen participants will be enrolled, ideally within one year. Participants will be enrolled regardless of OI type since Bronchial Wall Thickening, a finding we are attempting to validate, was observed in all types of OI. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. Smokers will not be excluded.
- 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 |
|---|---|---|
| Adults with OI | 18 participants will be enrolled through in this pilot study. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. All efforts will be made to complete all data collection and testing on the same day. However, procedures completed within ±12 months will be accepted. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Participants will be enrolled regardless of OI type since BWT, a finding we are attempting to validate, was observed in all types of OI. Smokers will not be excluded. |
What is being measured
The primary outcome is the main question the study is designed to answer.
proportion of restrictive lung physiology
FEV1/FVC greater than or equal to 80%, which is obtained from PFT
Measured: 12 months
Secondary outcomes (4)
Presence and severity of Bronchial Wall Thickening
measurement of percent of bronchial diameter subsumed by wall thickness
Measured: 12 months
Vital lung capacity
Vital capacity/total lung capacity/chest volume prediction based on 1) readings by trained chest CT readers and 2) 3-D lung imaging calculation
Measured: 12 months
Presences of pulmonary fibrosis
Presence of pulmonary fibrosis based on readings by trained chest CT readers
Measured: 12 months
Change in lung tissue
location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Apr 2022
- Study start1 Aug 2022
- Primary completion31 Aug 2027 (estimated)
- Study completion31 Dec 2027 (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
- Cross-sectional
- Enrolment
- 18 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Brendan Lee, Baylor College of Medicine
- Investigators
- Vernon Sutton, MD, Principal investigator, Baylor College of MedicineKathleen Raggio, Study chair, Hospital for Special Surgery, New York
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05317637
- Sponsor's protocol ID
- H49848
- Status last verified
- Oct 2026
- First submitted
- 23 Aug 2021
- Last updated
- 4 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiopulmonary Outcomes in Osteogenesis Imperfecta: BBD7708
- ClinicalTrials.gov ID
- NCT05317637
- Acronym / sponsor ID
- H49848
- Conditions
- Osteogenesis Imperfecta
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 18 participants (estimated)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Study start
- 1 Aug 2022 (actual)
- Primary completion
- 31 Aug 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 8 Apr 2022 (actual)
- 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 group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen.
Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.
Detailed description
This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Eighteen participants will be enrolled, ideally within one year. Participants will be enrolled regardless of OI type since Bronchial Wall Thickening, a finding we are attempting to validate, was observed in all types of OI. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. Smokers will not be excluded.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adults with OI | – | –18 participants will be enrolled through in this pilot study. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. All efforts will be made to complete all data collection and testing on the same day. However, procedures completed within ±12 months will be accepted. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Participants will be enrolled regardless of OI type since BWT, a finding we are attempting to validate, was observed in all types of OI. Smokers will not be excluded. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Individuals with Osteogenesis Imperfecta
Key inclusion criteria (3 listed)
- Individuals who are able to give informed consent or have a legally authorized representative capable of giving consent on the subject's behalf
- Individuals ages 18 and older of all races and sexes
- Individuals who have been diagnosed with OI clinically and/or genetically
Key exclusion criteria (3 listed)
- Individuals diagnosed with respiratory illness within 6 weeks of enrollment or undergoing diagnostic studies for an active illness.
- Individuals with other skeletal dysplasia or genetic diagnosis
- Individuals diagnosed with cardiopulmonary comorbidities that affect lung compliance
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
proportion of restrictive lung physiology
Time frame: 12 months
FEV1/FVC greater than or equal to 80%, which is obtained from PFT
4 secondary outcomes
Presence and severity of Bronchial Wall Thickening
Time frame: 12 months
Vital lung capacity
Time frame: 12 months
Presences of pulmonary fibrosis
Time frame: 12 months
Change in lung tissue
Time frame: 12 months
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 4 Nov 2026.
- Individual participant dataSharing planned: No
Related trials for Osteogenesis Imperfecta
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GRACE II (General Retrospective Analysis of Commercial Experience With AGN1 LOEP)
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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 Sutton, MD principal investigator
Baylor College of Medicine
Kathleen Raggio study chair
Hospital for Special Surgery, New York
3 sites in 1 country: 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 3 sites in United States.
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 3 inclusion and 3 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 4 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. 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?
proportion of restrictive lung physiology (time frame: 12 months). 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 4 Nov 2026.