A Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and the Genotype-Phenotype Correlation
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 46
- 试验地点
- 1
- 主要终点
- Causes of morbidities in individuals with OI
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 1 Day 至 120 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA:
- •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).
排除标准
- •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.
- •\ There are no exclusionary criteria related to race or gender for this protocol.
研究组 & 干预措施
Enrollees
Individuals with Osteogenesis Imperfecta
结局指标
主要结局
Causes of morbidities in individuals with OI
时间窗: Ongoing
clinical course
Clinical course, underlying pathogenesis, and comorbidities in the assessed systems in individuals with OI
时间窗: Ongoing
clinical course
Correlation of genotype and phenotype
时间窗: Ongoing
genotype-phenotype correlations
次要结局
- Tolerability and feasibility of each measure of the clinical battery of assessments based on clinical observation(Ongoing)