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

  • End date
    Dec 31, 2029
  • participants needed
  • sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Updated on 26 December 2021
computed tomography
autosomal dominant
bone mineral density
short stature
bone density scan
hearing test
connective tissue disorder
bowing of the long bones
breathing tests
dental exam



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.


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


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

People who previously had childhood data collected in certain other protocols


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


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.


We propose a longitudinal study of the natural history of the collagen-related disorder osteogenesis imperfecta (OI). The overall objectives are to 1) obtain a comprehensive assessment of the natural history and progression of the multiple secondary features of osteogenesis imperfecta, and 2) further the understanding of genotype-phenotype correlation using biosamples collected from well-characterized affected individuals. This study is in part a continuation of protocol 97-CH-0064, and thus will continue to follow individuals with OI enrolled in that protocol, to incorporate biosamples obtained, and to analyze data collected under that protocol. The major objectives of protocol 97-CH-0064 have focused on radiographic features including scoliosis and rib deformities, bone density, intensive rehabilitation, and physical therapy. New developments in genetics, bone tissue biology, and pathophysiology of OI in the past decade, along with the increasing life expectancy of affected individuals, highlight a need for the continuation and expansion of this natural history study to understand the full disease phenotypic spectrum, and to generate biobanks of tissue samples from well-characterized study participants for continued research. This proposed protocol will: 1) Continue to follow study participants, use biosamples, and analyze data gathered under protocol 97-CH-0064 (which will be closed upon the start of this protocol). 2) Expand to include currently known collagen-related OI types V-XVIII and potential additional types, in addition to collagen OI types III and IV included under protocol 97-CH-0064. 3) Extend the age criteria for study participants to include individuals of all ages, with age at study enrollment targeted to those from birth to 12 years. This will allow us to follow clinical outcomes of young adults who had aged out of prior NICHD OI research programs. The major objectives will focus on: 1) Continued comprehensive assessment of radiographic, bone density, audiology, dental, cardiovascular, pulmonary, and neurologic manifestations, and physical rehabilitation. The immediate goals from this will encompass a) identifying underlying contributing factors and comorbidities for scoliosis, b) gaining insight into occurrence and progression of cardiac valvular abnormalities, and c) elucidating the pathogenesis of primary lung parenchymal defects in individuals with OI. 2) Additional comprehensive assessment of endocrine and renal systems. The novel evaluation of metabolism in individuals with OI will allow understanding of obesity prevalence in this population. 3) Continued genetic and molecular biology investigations of OI.

Condition Osteogenesis Imperfecta, Short Stature
Clinical Study IdentifierNCT03575221
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last Modified on26 December 2021


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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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