Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation
- Conditions
- Short StatureOsteogenesis Imperfecta
- Registration Number
- NCT03575221
- Lead Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- 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.
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 46
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Causes of morbidities in individuals with OI Ongoing clinical course
Clinical course, underlying pathogenesis, and comorbidities in the assessed systems in individuals with OI Ongoing clinical course
Correlation of genotype and phenotype Ongoing genotype-phenotype correlations
- Secondary Outcome Measures
Name Time Method Tolerability and feasibility of each measure of the clinical battery of assessments based on clinical observation Ongoing
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States