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临床试验/NCT05946278
NCT05946278招募中不适用

Identification and Characterization of Genetic Regulators of Bone Health That Are Unique to Vertebral Bone.

University of Colorado, Denver1 个研究点 分布在 1 个国家目标入组 550 人开始时间: 2024年4月最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
入组人数
550
试验地点
1
主要终点
Gene and transcript quantification

研究概览

简要总结

Osteoporosis is an age related disease in which a person's bone slowly becomes weaker with time. The bones may become so weak that they break easily such as a fall from standing height. The most commonly broke bones in osteoporosis are those of the hip, the spine or the wrist. Osteoporosis runs in families meaning that genetic differences explain why some people break bones in old age and other do not. Genetic studies have been done that show the the genes associated with spine (vertebral) fractures (broken bones) and hip fractures are different, suggesting that osteoporosis of the spine is not the exact same disease as osteoporosis of the hip. Genetic studies tell us what part of the genome (i.e. genes) are associated with a disease, but do not tell us how these genes act biologically to cause that disease. In this study, we seek to determine how the genes uniquely associated with spine osteoporosis behave in normal and aged bone, to determine how they interact with each other as a team to impact spine bone. In this study, we will measure gene activity (so called gene expression) in bone samples taken from people undergoing major spine deformity surgery. We will using genetic data from these patients to determine how gene activity is controlled in bone and how that relates to measures of bone health such as bone mineral density data. The results of this study will provide critical data regarding how osteoporosis of the spine happens, and these data will be used to find better and safer treatments to prevent bone fractures of the spine that happen with age.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Cross Sectional

入排标准

年龄范围
18 Years 至 85 Years(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • Men and women between the ages of 18 and 85 undergoing a multi-level spinal fusion (i.e. a T10 (or higher) fusion to the pelvis) -OR- a 3 column osteotomy with a corpectomy from for short segment surgeries -OR- a vertebral column resection (VCR) involving a corpectomy -OR- any deformity correction surgery wherein the attending surgeon determines that a large amount of bone containing trabecular elements will be removed and discarded.
  • Willing and able to provide informed consent

排除标准

  • End stage renal disease.
  • Any history of cancer.
  • Reliance on a wheelchair for 70% or greater of their mobility for longer than 12 months.
  • Quadra or paraplegia due to spinal cord injury.
  • Current use of epilepsy medications.
  • Confirmed Marfans, osteogenesis imperfecta or other genetic syndrome known to impact bone formation (Guacher's, Vit D independent rickets, etc).
  • Current glucocorticoid use lasting longer than 3 months, or greater than 6 months lifetime use.
  • Current or suspected current infection associated with orthopedic hardware.
  • HIV or Hep C positive and or currently on anti-viral medications.
  • History of gastric bypass surgery and or weigh loss exceeding 100 pounds.
  • Primary or secondary hyperparathyroidism.
  • Paget's disease

结局指标

主要结局

Gene and transcript quantification

时间窗: Baseline

The abundances (in transcripts per million, TPM) of all known transcripts will be quantified in each bone sample via next generation RNA-sequencing.

Genotypes

时间窗: Baseline

Low coverage whole genome sequence data will be obtained from all participants and the yielded outcome will be high quality genotypes for millions of single nucleotide polymorphism (SNPs) across the patient's genome. As this is low coverage genotyping, the coverage rate will be between 1 and 0.4X representation for each spot in the genome per patients, so the data will be imputed to ensure coverage to 1X for all patients. Each patient will be genotyped and therefore, data on a per participant level will be yielded.

次要结局

  • Co-localization(Baseline)
  • Expression-phenotype correlation(Baseline)
  • Co-expression Network(Baseline)
  • Expression quantitative trait loci (eQTL)(Baseline)

研究者

申办方类型
Other
责任方
Sponsor

研究点 (1)

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