Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT03575221|
Recruitment Status : Recruiting
First Posted : July 2, 2018
Last Update Posted : July 4, 2022
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:
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.
|Condition or disease|
|Osteogenesis Imperfecta Short Stature|
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.
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.
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.
Individuals previously enrolled in 97-CH-0064, or other NIH OI study protocols from whom childhood data were collected at the NIH. Or individuals from birth to age 12 years at enrollment with a diagnosis of OI type III XVIII and potential additional types to be identified by OI genetic mutations.
|Study Type :||Observational|
|Estimated Enrollment :||125 participants|
|Official Title:||A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation|
|Actual Study Start Date :||July 30, 2018|
|Estimated Primary Completion Date :||December 31, 2029|
|Estimated Study Completion Date :||December 31, 2029|
Individuals with Osteogenesis Imperfecta
- Clinical course, underlying pathogenesis, and comorbidities in the assessed systems in individuals with OI [ Time Frame: Ongoing ]clinical course
- Correlation of genotype and phenotype [ Time Frame: Ongoing ]genotype-phenotype correlations
- Causes of morbidities in individuals with OI [ Time Frame: Ongoing ]clinical course
- Tolerability and feasibility of each measure of the clinical battery of assessments based on clinical observation [ Time Frame: Ongoing ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03575221
|Contact: Joan C Marini, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Joan C Marini, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|