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

6. juli 2026 opdateret af: 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.

Studieoversigt

Undersøgelsestype

Observationel

Tilmelding (Anslået)

200

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiekontakt

Undersøgelse Kontakt Backup

Studiesteder

    • Guangdong
      • Guangzhou, Guangdong, Kina, 510060
        • Rekruttering
        • Zhongshan Ophthalmic Center, Sun Yat-sen University
        • Kontakt:
        • Ledende efterforsker:
          • Sheng Liu

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

  • Barn
  • Voksen
  • Ældre voksen

Tager imod sunde frivillige

Ja

Prøveudtagningsmetode

Ikke-sandsynlighedsprøve

Studiebefolkning

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.

Beskrivelse

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.

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Kohorter og interventioner

Gruppe / kohorte
Intervention / Behandling
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.

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Single-cell transcriptomic atlas and developmental trajectory of embryonic retinal and visual cortical neurons
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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

Sekundære resultatmål

Resultatmål
Foranstaltningsbeskrivelse
Tidsramme
Action potential firing patterns of embryonic visual neurons
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Publikationer og nyttige links

Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Faktiske)

16. januar 2026

Primær færdiggørelse (Anslået)

1. juni 2027

Studieafslutning (Anslået)

1. juni 2027

Datoer for studieregistrering

Først indsendt

23. juni 2026

Først indsendt, der opfyldte QC-kriterier

6. juli 2026

Først opslået (Faktiske)

7. juli 2026

Opdateringer af undersøgelsesjournaler

Sidste opdatering sendt (Faktiske)

7. juli 2026

Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier

6. juli 2026

Sidst verificeret

1. juni 2026

Mere information

Begreber relateret til denne undersøgelse

Plan for individuelle deltagerdata (IPD)

Planlægger du at dele individuelle deltagerdata (IPD)?

INGEN

IPD-planbeskrivelse

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.

Disse oplysninger blev hentet direkte fra webstedet clinicaltrials.gov uden ændringer. Hvis du har nogen anmodninger om at ændre, fjerne eller opdatere dine undersøgelsesoplysninger, bedes du kontakte register@clinicaltrials.gov. Så snart en ændring er implementeret på clinicaltrials.gov, vil denne også blive opdateret automatisk på vores hjemmeside .

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