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

NCT03575221 | Completed

• 2 other identifiers: 18012018-CH-0120
• Study Type: observational
• Target: 46
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Osteogenesis Imperfecta; Short Stature

Keywords

Osteogenesis Imperfecta; Collagen; Short Stature; Natural History

Outcome Measures

Primary Outcomes (3)

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

  clinical course

  Ongoing

• Correlation of genotype and phenotype

  genotype-phenotype correlations

  Ongoing

• Causes of morbidities in individuals with OI

  clinical course

  Ongoing

Secondary Outcomes (1)

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

  Ongoing

Study Arms (1)

Enrollees

Individuals with Osteogenesis Imperfecta

Eligibility Criteria

• Age: 1 Day - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals of all ages, races, genders, and nationalities@@@@@@

You may qualify if:

• 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.
• 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:
• 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.
• 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).

You may not qualify if:

• 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.
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Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• 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.

  PMID: 37197785 DERIVED

• 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.

  PMID: 34519823 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Osteogenesis Imperfecta; Dwarfism

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases

Study Officials

• Joshua J Zimmerberg, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 28, 2018
• First Posted: July 2, 2018
• Study Start: July 30, 2018
• Primary Completion: January 30, 2024
• Study Completion: January 30, 2024
• Last Updated: February 23, 2026

Record last verified: 2026-02-19

Locations

US (1)