Whole Genome SequencingN-Care projectNCT06821386
N-Care Project: Enhancing Asian-Pacific Collaboration
An observational study of Whole Genome Sequencing and Genetic Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for targeted treatment. Read more about this study
- Who is it for?
- Ages Up to 18 months
- Conditions the study is for
- Whole Genome Sequencing, Genetic Disease, Critical Care, Intensive Care
- What is being tested?
- Genetic study with nanopore sequencing
- How many people
- 70 participants
- Where
- 1 siteTaiwan
- Study dates
- 17 Feb 2025to 31 Dec 2032
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 months
- All sexes
- No healthy volunteers
- Child
Study population: Infants or newborns under 18 months of age admitted to the ICU with a high suspicion of a genetic disease.
Who may be able to join
- Age: infant/newborn less than 18 months
- Admitted to intensive care unit
- At least one of the following conditions A. Specific anomaly highly suggestive of a genetic etiology
- Multiple birth defects
- Single major malformation that required intervention (surgery or medication)
- Significantly abnormal EKG
Show all 12Show fewer
- Significant hypotonia
- Children with high-risk stratification on assessment of a Brief Resolved Unexplained Event (BRUE) with any of the following:
- Recurrent severe infection events
- Recurrent or prolonged seizures
- Unexplained cardiopulmonary resuscitation (CPR)
- Suspect inborn error of metabolism
Who cannot join
- Infants with a definitive non-genetic diagnosis: ex as below A. An infection with normal response to therapy B. Isolated prematurity C. Transient hypoglycemia D. Isolated unconjugated hyperbilirubinemia E. Isolated Transient Neonatal Tachypnea F. Those where the clinical course can be explained without genetic testing
- Confirmed genetic diagnosis explains illness
- Lack of consent: Families who do not consent to genetic testing or data sharing.
- Infants without sufficient DNA sample quality/quantity: Where the quality or quantity of the DNA sample is inadequate for sequencing.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Taiwan1 site, 1 recruiting
- Recruiting
National Taiwan University Hospital
Taipei
Ni-Chung Lee, PhD, +886-23123456 ext. 271936, ncleentu@ntu.edu.tw
About this study
Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for targeted treatment.
Read the detailed description
A group of individuals with specific characteristics was selected. Genetic studies were arranged for participants who provided their consent.
- Conditions
- Whole Genome Sequencing, Genetic Disease, Critical Care, Intensive Care, Nanopore Sequencing
- Being tested
- Genetic study with nanopore sequencing
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic study with nanopore sequencingDiagnostic test
The study targets critically ill children under 18 months of age, employing third-generation genome sequencing technology to complete long-read sequencing within 8-11 days, analyzing single nucleotide variants, small insertions/deletions, and structural variations. Through this research, we aim to enhance diagnostic accuracy, enabling ICUs to provide personalized and precision care and treatment based on genetic information, thereby ensuring a greater level of health security for these children. We only draw 3-5cc whole blood once for exam.
What is being measured
The primary outcome is the main question the study is designed to answer.
Positive yield rate
The percentage of individuals who test positive among the long-read sequencing exam
Measured: 9 days after enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Feb 2025
- Study start17 Feb 2025 (estimated)
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Whole Genome SequencingStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06821386
- Sponsor's protocol ID
- 202412119RINA
- Acronym
- N-Care project
- Status last verified
- Feb 2025
- First submitted
- 3 Feb 2025
- Last updated
- 20 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- N-Care Project: Enhancing Asian-Pacific Collaboration
- ClinicalTrials.gov ID
- NCT06821386
- Acronym / sponsor ID
- N-Care project / 202412119RINA
- Conditions
- Whole Genome Sequencing, Genetic Disease, Critical Care, Intensive Care, Nanopore Sequencing
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- 17 Feb 2025 (estimated)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2032 (estimated)
- First posted
- 12 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for targeted treatment.
Detailed description
A group of individuals with specific characteristics was selected. Genetic studies were arranged for participants who provided their consent.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 18 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Infants or newborns under 18 months of age admitted to the ICU with a high suspicion of a genetic disease.
Key inclusion criteria (12 listed)
- Age: infant/newborn less than 18 months
- Admitted to intensive care unit
- At least one of the following conditions A. Specific anomaly highly suggestive of a genetic etiology
- Children with high-risk stratification on assessment of a Brief Resolved Unexplained Event (BRUE) with any of the following:
- Recurrent severe infection events
Key exclusion criteria (4 listed)
- Infants with a definitive non-genetic diagnosis: ex as below A. An infection with normal response to therapy B. Isolated prematurity C. Transient hypoglycemia D. Isolated unconjugated hyperbilirubinemia E. Isolated Transient Neonatal Tachypnea F. Those where the clinical course can be explained without genetic testing
- Confirmed genetic diagnosis explains illness
- Lack of consent: Families who do not consent to genetic testing or data sharing.
- Infants without sufficient DNA sample quality/quantity: Where the quality or quantity of the DNA sample is inadequate for sequencing.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic study with nanopore sequencingThe study targets critically ill children under 18 months of age, employing third-generation genome sequencing technology to complete long-read sequencing within 8-11 days, analyzing single nucleotide variants, small insertions/deletions, and structural variations. Through this research, we aim to enhance diagnostic accuracy, enabling ICUs to provide personalized and precision care and treatment based on genetic information, thereby ensuring a greater level of health security for these children. We only draw 3-5cc whole blood once for exam. | Diagnostic test | – |
Primary outcome
Positive yield rate
Time frame: 9 days after enrollment
The percentage of individuals who test positive among the long-read sequencing exam
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Feb 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Whole Genome Sequencing and Genetic Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ni-Chung Lee, MDPhD (+886-2-23123456 ext. 271936, ncleentu@ntu.edu.tw), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Positive yield rate (time frame: 9 days after enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Feb 2025.