Genomics and Microbiome Investigation in Cases of Recurrent Pregnancy Losses
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Exome test, Microbiota analysis.
- Who it may be relevant to
- Registry conditions: Recurrent Pregnancy Loss(RPL). Basic parameters: No limits · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Brazil
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Evaluation of Predisposing Factors for Idiopathic Recurrent Pregnancy Losses: a Study Using a Genomic and Microbiota Approach
Overview
Recurrent pregnancy losses (RPL) are characterized by the occurrence of more than one spontaneous pregnancy loss. It is caused by different known factors, but about half of the cases remain without an explanation. Efforts are being done in the scientific community to solve this cases. In this study, the investigators aim to investigate genetic factors that might predispose to RPL, as well as the influence of the uterine microbiota (microorganisms that normally live in the uterus of women).
Detailed description
Recurrent pregnancy losses (RPL) are adverse reproductive outcomes characterized by the occurrence of more than one spontaneous pregnancy loss. It is estimated that RPL occurs in 1 to 5% of couples in reproductive period and is caused by different known factors. Despite this, around half of the cases remain without a defined etiology. In this context, efforts are being done in the scientific community to elucidate idiopathic cases. Among them, robust genomic investigations, such as exome sequencing, stand out for maximizing the chances of identifying causative gene variants rather than a gene-specific approach. Another front of study to understand the factors that modulate complex etiology conditions such RPL is the characterization of the microbiota of different anatomical sites. Each human anatomical site presents a distinct microbiota selected through a long co-evolutionary process and its individual and pathological variability can lead to functional repercussions. Therefore, the aim of this study is to investigate factors predisposing to recurrent pregnancy loss through a genomic evaluation and characterization of the uterine microbiota of patients affected by RPL. To achieve this, two approaches will be conducted: a genomic approach, where the exome of women with RPL will be analyzed and compared with population genomic databases; and a etagenomic approach, where the characterization of the uterine microbiota of women with RPL will be performed and compared with that of fertile women. Using the data produced in this study, the investigators hope to be able to understand more broadly how the genome influences the predisposition to RPL and how changes in certain marker genes can lead to an increased risk for the occurrence of this reproductive condition. Furthermore, based on analyzes of the uterine microbiota, the investigators hope to be able to understand how the variability of microorganisms present in this organ acts during pregnancy, especially in cases of RPL. The results of the investigations proposed in this project will help to understand the predisposing factors to RPL and may lead to the development of new investigative approaches, such as the design of genetic panels and analyzes of the uterine microbiota, which may have an impact on the clinical management of the condition in the future.
Interventions
- Diagnostic test Exome test
An exome will be performed on the participants of RPL group. - Diagnostic test Microbiota analysis
A cervical microbiota analysis will be performed in the RPL and control groups.
Primary outcome measures
- Microbiome [Time frame: At the time of enrollment]
- Exome [Time frame: At the time of enrollment]
Eligibility criteria
Inclusion criteria
- RPL group: history of at least two spontaneous pregnancy losses, regardless of whether they have living children, and whose etiology for the pregnancy losses was not determined by the care team\'s protocols;
- Control group: at least two full-term pregnancies and no history of difficulty getting pregnant, pregnancy loss or other infertility factors.
Exclusion criteria
- RPL group: less than two spontaneous pregnancy losses and those with a known cause for repeated pregnancy losses;
- Control group: N/A
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-control
Study locations
Brazil · 1 center
- Hospital de Clínicas de Porto Alegre (HCPA) — Porto Alegre
Identifiers
NCT: NCT06604338 · 20210575 · 5364132100005327