Microchimerism From a Firstborn Boy or an Older Brother in Patients With Recurrent Pregnancy Losses: a Pilot Study
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 32
- 试验地点
- 2
- 主要终点
- Frequency of sRPL patients with microchimeric cell originating from older brother
研究概览
简要总结
This pilot study aims to evaluate if microchimeric cells in a patient with recurrent pregnancy loss (RPL) can be detected by the blood analysis for the presence of the DYS14 gene and the use of indel-panel methods and also, to examine if this method can distinguish the cell's origin; comparing gene sequence from the patient's firstborn son or her older brother. In addition, the pilot study will provide the investigators with information and experience necessary for a subsequent main study to be conducted.
详细描述
To the investigators' knowledge, no previous study has determined the origin of microchimeric cells, and therefore, this pilot study will use a newly developed genetic analysis which will compare DNA fragments from the male microchimeric cells with DNA fragments from the RPL patient's son(s) and older brother(s).
The pilot study aims to evaluate the functions and capacity of a newly developed genetic test identifying microchimeric cells. A pilot study is necessary to assure the DNA fragments (indels) analyzed in the genetic analysis include enough informative differences to distinguish between the son(s), daughter(s) and the older brother(s) before these investigations can be initiated in a larger sample. To assure the test can distinguish origin of microchimeric cells between relatives and work independent of gender, The study will include both the proband's daughter(s) and son(s) to strengthen the confidence that the test possesses this ability.
10 sRPL and their older brother(s) and firstborn child is included. total included: approx 30.
Only sRPL whose brother(s) and child(ren) also consent to participate, will be included.
Blood sample of 12 ml EDTA plasma is collected from the sRPL patient. A swap sample from oral mucosa is collected from the older brother and child(ren).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •≥3 consecutive pregnancy losses ≤12 weeks of gestation, which do not include confirmed ectopic or molar pregnancies.
- •Age <41 years at time of admission
- •Patients who have minimum one alive older brother with a common mother and prior birth of a boy, and patients who have minimum one alive older brother with a common mother and prior birth of a girl.
排除标准
- •Significant intrauterine malformations
- •Thyroid dysfunction
- •Known chromosomal abnormality
- •An older brother, a son or a daughter from whom we cannot not collect a swab test e.g., due to lack of consent, death, distance etc.
- •Transplant recipient
- •Transfusion recipient
- •Pregnancy at the time the blood sample is collected
- •Older Brother:
- •Inclusion Criteria:
- •Age difference between proband and the older brother <15 years
- •Common mother with the proband
- •sRPL patient's child:
- •Inclusion Criteria:
- •Age <15 years
结局指标
主要结局
Frequency of sRPL patients with microchimeric cell originating from older brother
时间窗: Non-pregnant state, performed during study completion, i.e. within 1 year
Determination of microchimeric cell origin: brother, son, daughter or not identified
Frequency of sRPL patients with microchimeric cell originating from unknown person
时间窗: Non-pregnant state, performed during study completion, i.e. within 1 year
Determination of microchimeric cell origin: brother, son, daughter or not identified
Frequency of sRPL patients with microchimeric male cells
时间窗: Non-pregnant state, performed during study completion, i.e. within 1 year
Prevalence of sRPL patients with microchimeric male cells in the peripheral blood
Frequency of sRPL patients with microchimeric cell originating from the patient's daughter
时间窗: Non-pregnant state, performed during study completion, i.e. within 1 year
Determination of microchimeric cell origin: brother, son, daughter or not identified
Frequency of sRPL patients with microchimeric cell originating from the patient's son
时间窗: Non-pregnant state, performed during study completion, i.e. within 1 year
Determination of microchimeric cell origin: brother, son, daughter or not identified
次要结局
未报告次要终点
研究者
Caroline Nørgaard-Pedersen
Principal investigator
Aalborg University Hospital