AzTrials
AzTrials

Osteogenesis ImperfectaNCT03575221

Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation

An observational study of Osteogenesis Imperfecta and Short Stature, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
Search all trials

Trial summary

Background: Osteogenesis Imperfecta (OI) is a connective tissue disorder. OI affects many aspects of a person s health and growth. It can cause frequent fractures, short stature, and bowing of the long bones. There is no known cure for OI so researchers want to learn more about it. Read more about this study

Who is it for?
Ages 1 day to 120 years
Conditions the study is for
Osteogenesis Imperfecta, Short Stature
How many people
46 participants
Where
1 siteUnited States
Study dates
30 Jul 2018to 30 Jan 2024
Phase
Observational
Are there results?
None posted in the registry

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 1 day to 120 years
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: Individuals of all ages, races, genders, and nationalities@@@@@@

Who may be able to join

  • In order to be eligible to participate in this study, an individual must meet either #1 OR #2 of the following criteria:
  • Individuals previously enrolled in 97-CH-0064, or other NIH OI study protocols for whom childhood data were collected at the NIH.
  • OR
  • Individuals from birth to age 12 years at enrollment to this protocol 18-CH-0120 with
  • a diagnosis of any of OI type III - XVIII or potential additional types.
  • Diagnosis of OI determined by identification of:
Show all 11Show fewer
  • A mutation in one allele of genes causing autosomal dominant OI types
  • (COL1A1, COL1A2, or IFITM5), OR
  • at least one mutation in genes that are indicative of the autosomal recessive OI types.
  • OR
  • Individuals with a clinical diagnosis of OI, and a mutation in one of the above genes identified through the Rare Bone disease screening protocol (04-CH-0077).

Who cannot join

  • Individuals with the diagnosis of OI Type I.
  • Individuals who cannot travel to the NIH because of their medical condition.
  • Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.
  • <TAB>
  • There are no exclusionary criteria related to race or gender for this protocol.

Trial locations and contacts

1 site in 1 country.

United States1 site

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892

Other trials in United States

About this study

Official title: A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation

Background:

Osteogenesis Imperfecta (OI) is a connective tissue disorder. OI affects many aspects of a person s health and growth. It can cause frequent fractures, short stature, and bowing of the long bones. There is no known cure for OI so researchers want to learn more about it.

Read more

Objectives:

To obtain a natural history of the course of OI. To find changes in genes that affect the disease.

Eligibility:

People from birth to age 12 years with certain types of OI

People who previously had childhood data collected in certain other protocols

Design:

Participants will stay in the clinic for a few days each visit. Visits will be about every 3-4 months to age 5 then about every 6-12 months. Visits may include:

Medical history

Physical exam

Hearing test

Dental exam

Blood, urine, and heart tests

Breathing measured while wearing a clear plastic hood for about 30 minutes

Tests of motion, strength, and motor skills

X-rays of the left hand, chest, legs, and spine

Bone density scan. Participants will lie on a flat table while a very small dose of x-rays is passed through the body.

Computed tomography and magnetic resonance imaging scans. Participants will lie on an exam table that moves in and out a scanner.

Breathing tests using stickers on the chest, a light probe on a finger or foot, and a face mask

Ultrasound of the kidneys, ureters, and bladder

Questionnaires

A small section of skin removed from the arm or thigh

For some tests, participants may take medicine to make them sleepy.

Participants may give separate consent for photos to be taken.

Read the detailed description

study Description:

This is a longitudinal study of the natural history of the collagen-related disorder osteogenesis imperfecta (OI), that includes enrolling new patients under the age of 12 years, along with an extended data collection from adult patients on whom previous childhood data was collected at the NIH.

Objectives:

Primary Objectives: 1) Identify and monitor longitudinal functional outcomes of individuals with collagen and collagen-related disorders, with focuses on identifying underlying contributing factors and comorbidities for scoliosis; gaining insight into occurrence and progression of cardiac valvular abnormalities; pathogenesis of primary lung parenchymal defects; and establish novel data relating to metabolism in OI and its relationship to obesity. 2) Correlate genotypic and phenotypic expression. 3) Identify genetic factors that modify the severity of clinical expression

Secondary Objectives: Adapt and develop standard of care management guidelines for individuals with collagen and collagen-related disorders.

Endpoints:

Primary Endpoints: 1) Clinical course, underlying pathogenesis, and comorbidities in the assessed systems in individuals with OI including for each focus: scoliosis progression across age, scoliosis progression relating to predictive factor, and scoliosis progression relating to mutation spectrum; time to development of valvular abnormality; development of pulmonary tissue abnormalities, presence/absence of pulmonary tissue abnormality, and time to development of pulmonary tissue abnormality; time to development of metabolic abnormality. 2) Correlation of phenotype relating to genotype. 3) Causes of morbidities in individuals with OI.

Secondary endpoints: Tolerability and feasibility of each measure of the clinical battery of assessments based on clinical observation.

Keywords
Osteogenesis Imperfecta, Collagen, Short Stature, Natural History
Medical subject headings
Osteogenesis Imperfecta, Dwarfism

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT03575221
Study groupRoleWhat they receive
EnrolleesIndividuals with Osteogenesis Imperfecta

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Clinical course, underlying pathogenesis, and comorbidities in the assessed systems in individuals with OI

    clinical course

    Measured: Ongoing

  2. Correlation of genotype and phenotype

    genotype-phenotype correlations

    Measured: Ongoing

  3. Causes of morbidities in individuals with OI

    clinical course

    Measured: Ongoing

Secondary outcomes (1)

  1. Tolerability and feasibility of each measure of the clinical battery of assessments based on clinical observation

    Measured: Ongoing

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted2 Jul 2018
  2. Study start30 Jul 2018
  3. Primary completion30 Jan 2024
  4. Study completion30 Jan 2024

Resources

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
Other
Enrolment
46 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03575221
Sponsor's protocol ID
180120
Other IDs
18-CH-0120
Status last verified
31 Aug 2026
First submitted
28 Jun 2018
Last updated
28 Sep 2026
Results posted
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Undecided: Once primary and secondary endpoints are met to be able to publish/share, we will create a plan to address the IPD sharing as well.

Publications

  • Gochuico BR, Hossain M, Talvacchio SK, Zuo MXG, Barton M, Dang Do AN, Marini JC. Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities. J Med Genet. 2023 Nov;60(11):1067-1075. doi: 10.1136/jmg-2022-109009. Epub 2023 May 16.

    PubMed 37197785

  • Ballenger KL, Tugarinov N, Talvacchio SK, Knue MM, Dang Do AN, Ahlman MA, Reynolds JC, Yanovski JA, Marini JC. Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure. J Clin Endocrinol Metab. 2022 Jan 1;107(1):67-76. doi: 10.1210/clinem/dgab679.

    PubMed 34519823

Questions about this trial

What is this clinical trial studying?

An observational study of Osteogenesis Imperfecta and Short Stature, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site 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 11 inclusion and 5 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: finished, as of the sponsor's last update on 28 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site 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?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

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?

Clinical course, underlying pathogenesis, and comorbidities in the assessed systems in individuals with OI (time frame: Ongoing). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03575221, which also lists 2 linked publications.

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 28 Sep 2026.

AzTrials uses cookies for analytics and advertising. You can accept or reject them; the site works either way. Privacy Policy.

Free account

Log in to keep searching

You’ve used your 3 free searches. AzTrials is free: log in or create a free account to keep searching clinical trials and save the ones you want to follow.

Create a free accountLog in