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Mapping of the Developmental Atlas of the Visual System and Research on Embryonic Neurogenesis Phenomena

6. července 2026 aktualizováno: Sheng Liu

This research studies how nerve cells in the human embryonic retina, visual brain regions, and brain areas responsible for higher cognitive functions grow, develop, and form interconnected functional networks.

Eye tissue, visual brain tissue, and other brain tissue linked to advanced cognitive functions will be collected from embryos whose pregnancies were terminated due to medical conditions or illnesses. High-throughput single-cell and single-nucleus sequencing will be utilized to map gene activity patterns and developmental growth pathways of retinal nerve cells.

Multiple testing tools will be combined to analyze these brain and retinal cells: Patch-seq (single-cell patch-clamp sequencing), high-density microelectrode arrays (MEA), and two-photon calcium imaging. With these tools, systematic measurements will be performed on the electrical activity, physical shape, synaptic connection patterns, and signal coding functions of neurons in the retina and visual brain regions. Multi-modal tissue maps and a public database will be constructed to store all collected research data.

Immunofluorescence staining will also be applied to compare structural differences and nerve fiber connections between visual brain regions and higher cognitive brain areas. The regenerative capacity and neuron formation process of embryonic brain stem cells, as well as the migration paths of developing neurons, will be tracked.

Overall, this study aims to fully uncover the neural foundation of visual signal processing, and identify the molecular regulatory networks that control nerve tissue development during the embryonic stage.

Přehled studie

Typ studie

Pozorovací

Zápis (Odhadovaný)

200

Kontakty a umístění

Tato část poskytuje kontaktní údaje pro ty, kteří studii provádějí, a informace o tom, kde se tato studie provádí.

Studijní kontakt

Studijní záloha kontaktů

Studijní místa

    • Guangdong
      • Guangzhou, Guangdong, Čína, 510060
        • Nábor
        • Zhongshan Ophthalmic Center, Sun Yat-sen University
        • Kontakt:
        • Vrchní vyšetřovatel:
          • Sheng Liu

Kritéria účasti

Výzkumníci hledají lidi, kteří odpovídají určitému popisu, kterému se říká kritéria způsobilosti. Některé příklady těchto kritérií jsou celkový zdravotní stav osoby nebo předchozí léčba.

Kritéria způsobilosti

Věk způsobilý ke studiu

  • Dítě
  • Dospělý
  • Starší dospělý

Přijímá zdravé dobrovolníky

Ano

Metoda odběru vzorků

Vzorek nepravděpodobnosti

Studijní populace

This study recruits pregnant patients undergoing termination of pregnancy at the Third Affiliated Hospital of Sun Yat-sen University, divided into an embryonic developmental abnormality group (Abnormal group) and a normal control group (Normal group), with a planned enrollment of 100 subjects per group. The gestational age of embryos ranges from 9 to 40 weeks. Two types of samples are included: retrospective cryopreserved specimens from the hospital biobank collected between January 2025 and January 2026 (20 cases per group, with donors having signed informed consent for specimen research use); and prospective fresh specimens collected between February 2026 and June 2027 (80 cases per group). All participants sign study-specific written informed consent.

Popis

Inclusion Criteria:

  • Abnormal group: Embryos with clinically confirmed embryonic developmental abnormalities requiring medical termination of pregnancy; intact retinal, visual and cognitive brain tissues available for snATAC-seq, scRNA-seq, electrophysiology, proteomics and RNAscope detection.

Normal group: Embryos confirmed free of any ocular and central nervous developmental defects by prenatal examination and anatomical observation; intact embryonic ocular and brain tissues meeting all experimental detection standards.

All sample donors have signed written informed consent authorizing the use of residual embryonic tissues for scientific research, with no monetary compensation involved.

Exclusion Criteria:

  • Embryonic ocular or brain tissues with severe necrosis, structural damage or microbial contamination that cannot support multi-omics and functional experiments.

Donors who withdraw or refuse the consent for tissue research use. Samples with irregular collection, transportation or cryopreservation procedures resulting in tissue degradation and failure to meet experimental requirements.

Studijní plán

Tato část poskytuje podrobnosti o studijním plánu, včetně toho, jak je studie navržena a co studie měří.

Jak je studie koncipována?

Detaily designu

Kohorty a intervence

Skupina / kohorta
Intervence / Léčba
Abnormal Group
Embryos with confirmed embryonic developmental abnormalities, gestational age 9-40 weeks, from patients receiving clinically indicated termination of pregnancy. Tissue collection and multi-omics sequencing analysis will be performed on ocular and brain tissues.
This observational study collects discarded human embryonic ocular and brain tissues from patients undergoing clinically indicated termination of pregnancy, with gestational age ranging from 9 to 40 weeks. We separate retinal, visual cortex and high-order cognitive cortex tissues, then perform single-cell multi-omics sequencing including transcriptome, chromatin accessibility and proteome profiling. The data is used to explore retinal neurogenesis, neuronal developmental trajectories and multi-modal cell atlas of embryonic visual system, without any clinical intervention on participants.
Normal Group
Embryonic tissues derived from normally developing embryos with gestational age of 9 to 40 weeks, collected from pregnant women who voluntarily received clinically indicated termination of pregnancy. Ocular and brain tissues will be collected and subjected to multi-omics sequencing analysis consistent with the abnormal group.
This observational study collects discarded human embryonic ocular and brain tissues from patients undergoing clinically indicated termination of pregnancy, with gestational age ranging from 9 to 40 weeks. We separate retinal, visual cortex and high-order cognitive cortex tissues, then perform single-cell multi-omics sequencing including transcriptome, chromatin accessibility and proteome profiling. The data is used to explore retinal neurogenesis, neuronal developmental trajectories and multi-modal cell atlas of embryonic visual system, without any clinical intervention on participants.

Co je měření studie?

Primární výstupní opatření

Měření výsledku
Popis opatření
Časové okno
Single-cell transcriptomic atlas and developmental trajectory of embryonic retinal and visual cortical neurons
Časové okno: Day 1 of tissue collection
Perform single-cell RNA sequencing on human embryonic eye and brain tissues from abnormal developmental group and normal control group. Identify all cell subtypes in retina and visual-associated cognitive cortex, reconstruct continuous developmental trajectory of retinal neurogenesis and visual cortical neurons, and compare neuronal subtype distribution differences between the two groups.
Day 1 of tissue collection
Genome-wide chromatin open regions in embryonic visual tissues
Časové okno: Day 1 of tissue collection
Genome-wide chromatin open regions are detected via snATAC-seq on embryonic ocular and brain tissues from case and control groups.
Day 1 of tissue collection
Differential chromatin accessibility between normal and malformed embryonic visual tissues
Časové okno: Day 1 of tissue collection
Differential chromatin accessibility signals are identified via integrated analysis of snATAC-seq and scRNA-seq data from embryonic ocular and brain tissues.
Day 1 of tissue collection
Candidate pathogenic genes underlying embryonic visual developmental abnormalities
Časové okno: Day 1 of tissue collection
Genes linked to abnormal embryonic visual development are screened based on differential chromatin and transcriptomic profiles.
Day 1 of tissue collection

Sekundární výstupní opatření

Měření výsledku
Popis opatření
Časové okno
Action potential firing patterns of embryonic visual neurons
Časové okno: Day 1 of tissue collection
Action potential firing patterns are recorded via combined Patch-seq and MEA on primary cultured retinal and visual cortical neurons from case and control embryonic tissues.
Day 1 of tissue collection
Synchronous electrical activity of embryonic neuronal networks
Časové okno: Day 1 of tissue collection
Neuronal network synchronous electrical activity is recorded via combined Patch-seq and MEA on primary cultured retinal and visual cortical neurons from case and control embryonic tissues.
Day 1 of tissue collection
Spatial expression localization of key visual development genes detected by RNAscope
Časové okno: The day 1 of embryonic tissue collection after clinical termination of pregnancy
RNAscope in situ hybridization is conducted on embryonic retinal and brain tissue slices to visualize the spatial distribution and quantitative expression levels of candidate pathogenic genes screened from multi-omics data. Compare the spatial gene expression differences between normal embryonic visual tissues and tissues with ocular developmental defects.
The day 1 of embryonic tissue collection after clinical termination of pregnancy
Differentially expressed proteins identified via global proteome sequencing
Časové okno: Day 1 of tissue collection
Global proteome sequencing is performed on embryonic ocular and brain tissues to generate lists of differentially expressed proteins linked to retinal neurogenesis and visual cortical development.
Day 1 of tissue collection
Spatial localization and expression abundance of proteins via immunohistochemistry
Časové okno: Day 1 of tissue collection
Immunohistochemistry staining is applied on embryonic tissue sections to detect spatial localization and expression abundance of core differentially expressed proteins.
Day 1 of tissue collection

Spolupracovníci a vyšetřovatelé

Zde najdete lidi a organizace zapojené do této studie.

Publikace a užitečné odkazy

Osoba odpovědná za zadávání informací o studiu tyto publikace poskytuje dobrovolně. Mohou se týkat čehokoli, co souvisí se studiem.

Termíny studijních záznamů

Tato data sledují průběh záznamů studie a předkládání souhrnných výsledků na ClinicalTrials.gov. Záznamy ze studií a hlášené výsledky jsou před zveřejněním na veřejné webové stránce přezkoumány Národní lékařskou knihovnou (NLM), aby se ujistily, že splňují specifické standardy kontroly kvality.

Hlavní termíny studia

Začátek studia (Aktuální)

16. ledna 2026

Primární dokončení (Odhadovaný)

1. června 2027

Dokončení studie (Odhadovaný)

1. června 2027

Termíny zápisu do studia

První předloženo

23. června 2026

První předloženo, které splnilo kritéria kontroly kvality

6. července 2026

První zveřejněno (Aktuální)

7. července 2026

Aktualizace studijních záznamů

Poslední zveřejněná aktualizace (Aktuální)

7. července 2026

Odeslaná poslední aktualizace, která splnila kritéria kontroly kvality

6. července 2026

Naposledy ověřeno

1. června 2026

Více informací

Termíny související s touto studií

Plán pro data jednotlivých účastníků (IPD)

Plánujete sdílet data jednotlivých účastníků (IPD)?

NE

Popis plánu IPD

The raw individual-level data contains identifiable embryonic genomic information. To protect participants' privacy and comply with domestic biomedical research ethics and data security laws, we cannot share the original IPD with external researchers. Processed analytical results including cell atlas, differential genes and regulatory networks will be released together with related publications.

Tyto informace byly beze změn načteny přímo z webu clinicaltrials.gov. Máte-li jakékoli požadavky na změnu, odstranění nebo aktualizaci podrobností studie, kontaktujte prosím register@clinicaltrials.gov. Jakmile bude změna implementována na clinicaltrials.gov, bude automaticky aktualizována i na našem webu .

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