EP4396375A4 - Compositions, procédés et systèmes pour test prénatal non invasif - Google Patents

Compositions, procédés et systèmes pour test prénatal non invasif

Info

Publication number: EP4396375A4
Authority: EP; European Patent Office
Prior art keywords: compositions; systems; methods; invasive prenatal; prenatal testing
Prior art date: 2021-09-02
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.): Pending

Application number

EP22865574.2A

Other languages

German (de)

English (en)

Other versions

EP4396375A1 (fr

Inventor

Eleen Yee Lam Shum

Hei Mun Christina Fan

Stephen P A Fodor

Haeun Grace Lee

Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)

Countable Labs Inc

Original Assignee

Enumerix Inc

Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)

2021-09-02

Filing date

2022-09-01

Publication date

2025-07-02

2022-09-01 Application filed by Enumerix Inc filed Critical Enumerix Inc

2022-09-01 Priority claimed from PCT/US2022/042385 external-priority patent/WO2023034531A1/fr

2024-07-10 Publication of EP4396375A1 publication Critical patent/EP4396375A1/fr

2025-07-02 Publication of EP4396375A4 publication Critical patent/EP4396375A4/fr

Status Pending legal-status Critical Current

Classifications

- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6851—Quantitative amplification
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6844—Nucleic acid amplification reactions
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/686—Polymerase chain reaction [PCR]
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2527/00—Reactions demanding special reaction conditions
- C12Q2527/143—Concentration of primer or probe
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2527/00—Reactions demanding special reaction conditions
- C12Q2527/146—Concentration of target or template
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2531/00—Reactions of nucleic acids characterised by
- C12Q2531/10—Reactions of nucleic acids characterised by the purpose being amplify/increase the copy number of target nucleic acid
- C12Q2531/113—PCR
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
- C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
- C12Q2537/143—Multiplexing, i.e. use of multiple primers or probes in a single reaction, usually for simultaneously analyse of multiple analysis
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2565/00—Nucleic acid analysis characterised by mode or means of detection
- C12Q2565/50—Detection characterised by immobilisation to a surface
- C12Q2565/514—Detection characterised by immobilisation to a surface characterised by the use of the arrayed oligonucleotides as identifier tags, e.g. universal addressable array, anti-tag or tag complement array
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/16—Primer sets for multiplex assays

Landscapes

Chemical & Material Sciences (AREA)
Life Sciences & Earth Sciences (AREA)
Organic Chemistry (AREA)
Health & Medical Sciences (AREA)
Proteomics, Peptides & Aminoacids (AREA)
Engineering & Computer Science (AREA)
Zoology (AREA)
Wood Science & Technology (AREA)
Analytical Chemistry (AREA)
Genetics & Genomics (AREA)
Bioinformatics & Cheminformatics (AREA)
Immunology (AREA)
Microbiology (AREA)
Molecular Biology (AREA)
Physics & Mathematics (AREA)
Biotechnology (AREA)
Biochemistry (AREA)
Biophysics (AREA)
General Engineering & Computer Science (AREA)
General Health & Medical Sciences (AREA)
Chemical Kinetics & Catalysis (AREA)
Pathology (AREA)
Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

EP22865574.2A 2021-09-02 2022-09-01 Compositions, procédés et systèmes pour test prénatal non invasif Pending EP4396375A4 (fr)

Applications Claiming Priority (2)

Application Number	Priority Date	Filing Date	Title
US202163240164P	2021-09-02	2021-09-02
PCT/US2022/042385 WO2023034531A1 (fr)	2021-09-02	2022-09-01	Compositions, procédés et systèmes pour test prénatal non invasif

Publications (2)

Publication Number	Publication Date
EP4396375A1 EP4396375A1 (fr)	2024-07-10
EP4396375A4 true EP4396375A4 (fr)	2025-07-02

Family

ID=85384809

Family Applications (1)

Application Number	Title	Priority Date	Filing Date
EP22865574.2A Pending EP4396375A4 (fr)	2021-09-02	2022-09-01	Compositions, procédés et systèmes pour test prénatal non invasif

Country Status (3)

Country	Link
US (1)	US20230074085A1 (fr)
EP (1)	EP4396375A4 (fr)
CN (1)	CN118234873A (fr)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number	Priority date	Publication date	Assignee	Title
CN115516367B (zh)	2019-12-10	2025-11-11	康泰博实验室公司	用于三维光片成像的方法和系统
CN117241878A (zh)	2021-03-05	2023-12-15	伊努梅里斯公司	用于生成微滴和执行数字分析的系统和方法
US12252745B2 (en)	2021-09-02	2025-03-18	Enumerix, Inc.	Detection and digital quantitation of multiple targets
EP4453246A1 (fr)	2021-12-20	2024-10-30	Enumerix, Inc.	Détection et quantification numérique de cibles multiples
WO2025178618A1 (fr) *	2024-02-21	2025-08-28	Countable Labs, Inc.	Quantification numérique à plage dynamique élevée de cibles

Citations (1)

* Cited by examiner, † Cited by third party
Publication number	Priority date	Publication date	Assignee	Title
WO2020061524A1 (fr) *	2018-09-20	2020-03-26	13.8, Inc.	Procédés de dosages dpcr multiplex et dosages de séquençage à lecture courte

2022
- 2022-09-01 CN CN202280073722.2A patent/CN118234873A/zh active Pending
- 2022-09-01 EP EP22865574.2A patent/EP4396375A4/fr active Pending
- 2022-09-07 US US17/939,774 patent/US20230074085A1/en not_active Abandoned

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number	Priority date	Publication date	Assignee	Title
WO2020061524A1 (fr) *	2018-09-20	2020-03-26	13.8, Inc.	Procédés de dosages dpcr multiplex et dosages de séquençage à lecture courte

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
BASU AMAR S.,: "Digital Assays Part I: Partitioning Statistics and Digital PCR", SLAS TECHNOLOGY: TRANSLATING LIFE SCIENCES INNOVATION, vol. 22, no. 4, 1 August 2017 (2017-08-01), pages 369 - 386, XP093121008, ISSN: 2472-6303, Retrieved from the Internet <URL:https://pdf.sciencedirectassets.com/780762/1-s2.0-S2472630317X22048/1-s2.0-S2472630322013334/main.pdf?X-Amz-Security-Token=IQoJb3JpZ2luX2VjECkaCXVzLWVhc3QtMSJHMEUCIQDxJutWwI26sPSygGOMZPFcNNZyLJsobfa7YhCISAtqKwIgcettMgddQcTihNI63vc1dgmCkyVf1J7k+hKpSJGcuPUqvAUI0v//////////ARAFGgwwNTkwMDM1NDY4NjUiDKtqa> DOI: 10.1177/2472630317705680 *
HAIDONG WANG ET AL: "Non-invasive prenatal testing of fetal aneuploidies using a new method based on digital droplet PCR and cell free fetal DNA", MEDRXIV, 22 December 2020 (2020-12-22), XP093270189, Retrieved from the Internet <URL:https://www.medrxiv.org/content/10.1101/2020.12.19.20248553v1.full.pdf> DOI: 10.1101/2020.12.19.20248553 *
JACKY LUCIEN ET AL: "Virtual partition digital PCR for high precision chromosomal counting applications", BIORXIV, 29 April 2021 (2021-04-29), XP093278899, Retrieved from the Internet <URL:https://www.biorxiv.org/content/10.1101/2021.04.29.441975v1.full> DOI: 10.1101/2021.04.29.441975 *
MUN YOUNG CHANG ET AL: "Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR", SCIENTIFIC REPORTS, vol. 6, no. 1, 1 December 2016 (2016-12-01), XP055530877, DOI: 10.1038/srep37153 *
PECORARO ET AL: "Overview and recommendations for the application of digital PCR European Network of GMO Laboratories (ENGL)", JOINT RESEARCH CENTRE(JRC) TECHNICAL REPORTS., 1 January 2019 (2019-01-01), pages 1 - 56, XP093210460, Retrieved from the Internet <URL:https://op.europa.eu/en/publication-detail/-/publication/fbc6d552-75f5-11e9-9f05-01aa75ed71a1/language-en> *
See also references of WO2023034531A1 *
SHUM ELEEN Y. ET AL: "Next-Generation Digital Polymerase Chain Reaction: High-Dynamic-Range Single-Molecule DNA Counting via Ultrapartitioning", ANALYTICAL CHEMISTRY, vol. 94, no. 51, 12 December 2022 (2022-12-12), pages 17868 - 17876, XP093077828, Retrieved from the Internet <URL:https://pubs.acs.org/doi/pdf/10.1021/acs.analchem.2c03649> DOI: 10.1021/acs.analchem.2c03649 *
TAN CHIANRU ET AL: "A multiplex droplet digital PCR assay for non-invasive prenatal testing of fetal aneuploidies", ANALYST, vol. 144, no. 7, 8 January 2019 (2019-01-08), UK, pages 2239 - 2247, XP055820640, ISSN: 0003-2654, DOI: 10.1039/C8AN02018C *

Also Published As

Publication number	Publication date
EP4396375A1 (fr)	2024-07-10
CN118234873A (zh)	2024-06-21
US20230074085A1 (en)	2023-03-09

Publication	Publication Date	Title
EP4396375A4 (fr)	2025-07-02	Compositions, procédés et systèmes pour test prénatal non invasif
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Legal Events

Date	Code	Title	Description
2023-03-11	STAA	Information on the status of an ep patent application or granted ep patent	Free format text: STATUS: THE INTERNATIONAL PUBLICATION HAS BEEN MADE
2024-06-07	PUAI	Public reference made under article 153(3) epc to a published international application that has entered the european phase	Free format text: ORIGINAL CODE: 0009012
2024-06-07	STAA	Information on the status of an ep patent application or granted ep patent	Free format text: STATUS: REQUEST FOR EXAMINATION WAS MADE
2024-07-10	17P	Request for examination filed	Effective date: 20240325
2024-07-10	AK	Designated contracting states	Kind code of ref document: A1 Designated state(s): AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
2024-12-11	DAV	Request for validation of the european patent (deleted)
2024-12-11	DAX	Request for extension of the european patent (deleted)
2025-04-16	RAP3	Party data changed (applicant data changed or rights of an application transferred)	Owner name: COUNTABLE LABS, INC.
2025-07-02	A4	Supplementary search report drawn up and despatched	Effective date: 20250603
2025-07-02	RIC1	Information provided on ipc code assigned before grant	Ipc: C12Q 1/686 20180101ALI20250527BHEP Ipc: G01N 1/38 20060101ALI20250527BHEP Ipc: B01F 23/41 20220101ALI20250527BHEP Ipc: C12Q 1/6851 20180101AFI20250527BHEP