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成骨不全症的心肺结果：BBD7708

2026年11月2日 更新者：Brendan Lee、Baylor College of Medicine

Osteogenesis imperfecta (OI) is a group of congenital and heritable bone disorders that currently affects at least 50,000 people in the United States. OI varies in severity from perinatally lethal to mild forms. The majority of cases is caused by a dominant mutation in type I collagen genes (COL1α1 and COL1α2), altering the quantity or quality of type I collagen.

Although OI is typically characterized as a disease of the bone, it is perhaps more accurately described as a connective tissue disorder. Type I collagen is a major constituent of lung connective tissue. Respiratory insufficiency is the leading cause of death in patients with OI. Thus, it is important and necessary to understand the etiology of the restrictive pulmonary physiology in the OI population.

研究概览

地位

主动，不招人

条件

详细说明

This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Eighteen participants will be enrolled, ideally within one year. Participants will be enrolled regardless of OI type since Bronchial Wall Thickening, a finding we are attempting to validate, was observed in all types of OI. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI. Smokers will not be excluded.

研究类型

观察性的

注册 (估计的)

18

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习地点

  • 美国
    • California
      • Los Angeles、California、美国、90095
        • University of California Los Angeles
    • Maryland
      • Baltimore、Maryland、美国、21205
        • Kennedy Krieger Institute / Hugo W. Moser Research Institute
    • New York
      • New York、New York、美国、10021
        • Hospital for Special Surgery

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

18年 及以上 (成人、年长者)

接受健康志愿者

不适用

有资格学习的性别

全部

取样方法

概率样本

研究人群

Individuals with Osteogenesis Imperfecta

描述

Inclusion Criteria:

  • Individuals who are able to give informed consent or have a legally authorized representative capable of giving consent on the subject's behalf
  • Individuals ages 18 and older of all races and sexes
  • Individuals who have been diagnosed with OI clinically and/or genetically

Exclusion Criteria:

  • Individuals diagnosed with respiratory illness within 6 weeks of enrollment or undergoing diagnostic studies for an active illness.
  • Individuals with other skeletal dysplasia or genetic diagnosis
  • Individuals diagnosed with cardiopulmonary comorbidities that affect lung compliance

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

  • 观测模型：COHORT
  • 时间观点：CROSS_SECTIONAL

队列和干预

团体/队列
Adults with OI

18 participants will be enrolled through in this pilot study. Interested males with OI will be preferred over females to compensate for our highly female original cohort and determine if sexual dimorphism exists for cardiopulmonary outcomes in people with OI.

This study is cross-sectional. At the participant's one study visit, data will be obtained at a single point in time and reflect the patients' current condition. All efforts will be made to complete all data collection and testing on the same day. However, procedures completed within ±12 months will be accepted. Evaluations will include family and medical history, self-report questionnaires, physical evaluation, diagnostic studies, and radiographic studies. Participants will be enrolled regardless of OI type since BWT, a finding we are attempting to validate, was observed in all types of OI. Smokers will not be excluded.

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
proportion of restrictive lung physiology
大体时间：12 months

FEV1/FVC greater than or equal to 80%, which is obtained from PFT
12 months

次要结果测量

结果测量
措施说明
大体时间
Presence and severity of Bronchial Wall Thickening
大体时间：12 months

measurement of percent of bronchial diameter subsumed by wall thickness
12 months
Vital lung capacity
大体时间：12 months

Vital capacity/total lung capacity/chest volume prediction based on 1) readings by trained chest CT readers and 2) 3-D lung imaging calculation
12 months
Presences of pulmonary fibrosis
大体时间：12 months

Presence of pulmonary fibrosis based on readings by trained chest CT readers
12 months
Change in lung tissue
大体时间：12 months

location of bronchiectasis, and presence of atelectasis based on readings by trained chest CT readers
12 months

其他结果措施

结果测量
措施说明
大体时间
Scoliosis
大体时间：12 months

Measurement of spinal scoliosis, kyphosis, lordosis and vertebral fractures including curve measurement based on standing plane films of thorax/abdomen exposed for bone imaging
12 months

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

Baylor College of Medicine

调查人员

  • 首席研究员：Vernon Sutton, MD、Baylor College of Medicine
  • 学习椅：Kathleen Raggio、Hospital for Special Surgery, New York

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (实际的)

2022年8月1日

初级完成 (估计的)

2027年8月31日

研究完成 (估计的)

2027年12月31日

研究注册日期

首次提交

2021年8月23日

首先提交符合 QC 标准的

2022年3月31日

首次发布 (实际的)

2022年4月8日

研究记录更新

最后更新发布 (实际的)

2026年11月4日

上次提交的符合 QC 标准的更新

2026年11月2日

最后验证

2026年10月1日

更多信息

与本研究相关的术语

其他相关的 MeSH 术语

其他研究编号

  • H49848

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

不

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

不

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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