NeuroPsyBiT-BD Omics: Genomic & Epigenomic Biobank of Bipolar Disorder

Официальное название

Establishment of the NeuroPsyBiT-BD Omics Program: Development of a Turkish Bipolar Disorder Biobank Integrating Genomic and Epigenomic Profiling With Structured Clinical Phenotyping and Secure Data Infrastructure

Обзор

Brief Summary The goal of this observational study is to establish a comprehensive biobank and phenotypic data repository for patients diagnosed with bipolar disorder in Türkiye. The study will prospectively collect standardized clinical, demographic, lifestyle, and biological data to create a secure genomic and epigenomic research resource. The main questions it aims to answer are: Can large-scale, standardized phenotypic and biological data collection improve the understanding of bipolar disorder subtypes and disease course? Can integration of biobank samples with genomic and epigenomic analyses identify biomarkers that inform future diagnosis, prognosis, and treatment strategies? Participants will: Provide consent and demographic/clinical information using the NeuroPsyBiT Data Collector software. Contribute blood samples (e.g., EDTA tubes) for DNA extraction, genotyping, and future epigenomic studies. Allow secure storage of their data and biospecimens in the RTSGD biobank for use in ethically approved research projects. All data and samples will be collected and stored under strict ethical oversight and in compliance with national (KVKK) and international (GDPR) data protection regulations. Personally identifiable information will not be shared, and access to the biobank and dataset will only be granted after approval by institutional review boards and ethics committees. This registry will create the foundation for future genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS), supporting the long-term goal of developing precision psychiatry tools for bipolar disorder.

Подробное описание

This project, NeuroPsyBiT-BD-001: Genomic \& Epigenomic Biobank of Bipolar Disorder, is an observational patient registry designed to establish a large-scale biobank and standardized phenotypic data platform for individuals with bipolar disorder in Türkiye.

Objectives and Rationale:

Bipolar disorder (BD) is a chronic and heterogeneous psychiatric condition with high morbidity, relapse rates, and unmet clinical needs. Genetic and epigenetic factors are believed to play a central role in its pathogenesis, yet reliable biomarkers remain scarce. By combining deeply phenotyped clinical data with biological samples, this registry seeks to create a robust foundation for genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS). This approach will enable future biomarker discovery, stratification of subtypes, and exploration of treatment response predictors.

Study Design:

Population: Patients diagnosed with bipolar disorder according to DSM-5 criteria will be recruited through the NeuroPsyBiT consortium, a partnership between the Research and Treatment Society of Genetic Disorders (RTSGD) and the Department of Psychiatry at Selçuk University Medical Faculty.

Sample Size: The initial target is 500 patients in the first phase, with an expansion goal of ≥1,000 patients within one year.

Data Collection: Phenotypic and clinical data (\>250 variables) will be systematically recorded using the NeuroCybe Data Collector, a proprietary software platform developed for standardized psychiatric data capture. Domains include demographics, medical/psychiatric history, clinical course, comorbidities, lifestyle/exposome, treatments, and psychometric assessments.

Biospecimen Collection: Blood samples (EDTA tubes) will be collected for DNA extraction, genotyping, and future methylation profiling. Samples will be processed and stored under ISO-compliant biobanking standards, ensuring traceability and long-term integrity.

Infrastructure and Data Security:

Biobank Management: RTSGD laboratories will serve as the central biobank facility, operating under internationally recognized quality standards for sample processing and storage.

Data Governance: All phenotypic and genotypic data will be securely stored on RTSGD on-premise servers with no cloud storage permitted.

Ethics \& Privacy: Data handling will strictly comply with national (KVKK) and international (GDPR) regulations. Personally identifiable information will be de-identified. Data access will only be granted following approval by both institutional ethics committees and the Turkish Ministry of Health.

Future Access: De-identified datasets and biospecimens will be made available for national and international collaboration upon direct application to the consortium, subject to ethical approvals.

Scientific Impact:

This registry represents the first large-scale, ISO-standardized biobank for bipolar disorder in Türkiye. By unifying deep phenotyping with genomic and epigenomic resources, it will:

Enable high-resolution GWAS and EWAS in BD.

Provide a resource for cross-cohort meta-analysis and replication studies.

Facilitate translational research toward precision psychiatry approaches (diagnostic tools, risk stratification, and individualized treatment).

Create a sustainable national and international platform for collaboration in psychiatric genetics and epigenetics.

Long-term Vision:

The NeuroPsyBiT-BD registry is designed as a scalable infrastructure. In its initial phases, it will serve national research priorities; over time, it will expand to international collaborations, training opportunities, and joint projects. By combining phenotypic richness with state-of-the-art genomic technologies, the registry will contribute significantly to global efforts aimed at unraveling the biological basis of bipolar disorder.

Вмешательства

• Другое Biobanking and Phenotypic Data Collection
  This intervention involves the systematic collection of blood samples (EDTA tubes for DNA extraction) and detailed phenotypic/clinical data using the NeuroCybe Data Collector software. All biospecimens are processed and stored at the RTSGD-NeuroPsyBiT Biobank under ISO-compliant procedures. Data are entered into a secure on-premises server infrastructure (GDPR/KVKK compliant) for long-term use in genomic and epigenomic studies. No therapeutic intervention is applied; all activities are non-invas

Первичные конечные точки

• Number of Participants with Successfully Collected and Biobanked DNA Samples [Срок оценки: From enrollment to 24 months]

Вторичные конечные точки (3)

• Completeness of Phenotypic Dataset per Participant [Срок оценки: 24 months]
• Proportion of Biobanked Samples Ready for Genomic/Epigenomic Analysis [Срок оценки: 24 months]
• Rate of Successful Data-Sample Linkage [Срок оценки: 24 months]

Критерии участия

Inclusion Criteria (Bipolar Disorder Cohort):

• Age 18-65 years.
• DSM-5 diagnosis of Bipolar I, II and NOS confirmed by SCID-5.
• Able to provide written informed consent.
• Willing to complete standardized phenotyping (e.g., YMRS, HDRS-17, FAST/WHODAS) and to provide biospecimens (minimum: whole blood in EDTA; optional: serum, plasma, PAXgene-RNA, cfDNA tubes).
• Stable psychotropic regimen for ≥14 days prior to sampling or drug-free for ≥14 days.

Inclusion Criteria (Control Cohort):

• Age 18-65 years.
• No lifetime DSM-5 psychiatric disorder (including bipolar and schizophrenia spectrum and others) by SCID-5.
• No first-degree family history of major psychiatric disorder (including bipolar and schizophrenia spectrum).
• Able to provide informed consent and blood samples for biobanking.
• No current psychotropic medication.

Exclusion Criteria (applies to both cohorts):

• Presence of neurological disorders (e.g., epilepsy, multiple sclerosis, Parkinson's disease).
• Severe, uncontrolled medical illness that could affect participation or biological measures (e.g., decompensated cardiac, renal, hepatic, or endocrine disease).
• Active infection or fever within 14 days; systemic corticosteroids or immunomodulators within 30 days; vaccination within 14 days.
• Blood transfusion within 3 months or blood donation within 2 weeks prior to sampling.
• Current substance use disorder.
• Pregnancy or breastfeeding at enrollment.
• Inability to comply with procedures or lack of capacity to consent (e.g., significant cognitive impairment, severe language barrier), or acute mania/psychosis requiring immediate hospitalization.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения

Случай-контроль

Центры проведения

Turkey (Türkiye) · 1 центр

• Selçuk University Faculty of Medicine, Department of Psychiatry / NeuroPsyBiT-RTSGD Consor — Konya

Публикации

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Идентификаторы

NCT: NCT07173842 · NEUROPSYBIT-BD-001 · TÜBİTAK 1505 · RTSGD-BD-BIOBANK-2025 · to be updated after approval

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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