Congenital Metabolic DisorderNCT03175692
Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
An observational study of Congenital Metabolic Disorder and Acute Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Read more about this study
- Who is it for?
- Ages 1 day and older
- Conditions the study is for
- Congenital Metabolic Disorder, Acute Disease
- What is being tested?
- Whole Exome Sequencing
- How many people
- 150 participants
- Where
- 1 siteTaiwan
- Study dates
- 14 Jun 2017to May 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
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 1 day and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Children and newborn patients at National Taiwan University Hospital
Who may be able to join
- Pediatric patients admitted to intensive care unit
- Infants with abnormal newborn screening result that is medical emergency
Who cannot join
- Participants or parents who cannot comply with study
Trial locations and contacts
1 site in 1 country.
About this study
Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.
- Conditions
- Congenital Metabolic Disorder, Acute Disease
- Being tested
- Whole Exome Sequencing
- Medical subject headings
- Metabolism, Inborn Errors, Acute Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole Exome SequencingDiagnostic test
Using next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation.
| Study group | Role | What they receive |
|---|---|---|
| critical illness in infants and children | Those infants and children who has congenital metabolism disorder or acute disorder. Receives: Diagnostic Test: Whole Exome Sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity of whole exome sequencing in detecting causative mutations
Measured: 10 weeks
Secondary outcomes (4)
Time frame of mutation identified after receipt of the sample
Measured: 10 weeks
Percentage of mutation identified within 7 days after receipt of the sample
Measured: 10 weeks
Changes in healthcare decision after disclosure of the result
Measured: 6 months
Parents/family's attitude about exome sequencing
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2017
- Study start14 Jun 2017
- Primary completionMay 2018 (estimated)
- Study completionMay 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Metabolic DisorderStudies 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Ministry of Science and Technology, Taiwan
- Responsible party
- Sponsor
- Investigators
- Wuh-Liang Hwu, Principal investigator, Department of Pediatrics and Medical Genetics, National Taiwan University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03175692
- Sponsor's protocol ID
- 201703073RINB
- Status last verified
- May 2017
- First submitted
- 23 May 2017
- Last updated
- 16 Jun 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jun 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
- ClinicalTrials.gov ID
- NCT03175692
- Acronym / sponsor ID
- 201703073RINB
- Conditions
- Congenital Metabolic Disorder, Acute Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Collaborators
- Ministry of Science and Technology, Taiwan
- Study start
- 14 Jun 2017 (actual)
- Primary completion
- May 2018 (estimated)
- Study completion
- May 2020 (estimated)
- First posted
- 5 Jun 2017 (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.
Under the joint efforts of genetic and intensive expert, to establish the high-throughput whole exon sequencing(WES) and analysis all the possible pathogenic genes. To provide patient with the appropriate treatment for genetic disease. Besides, it can identify the genetic factor of idiosyncrasy or susceptibility to explain the medical difficulties and give patients personalized advice.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| critical illness in infants and children | – | Diagnostic Test: Whole Exome SequencingThose infants and children who has congenital metabolism disorder or acute disorder. |
Who may qualify
- Ages
- 1 day and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children and newborn patients at National Taiwan University Hospital
Key inclusion criteria (2 listed)
- Pediatric patients admitted to intensive care unit
- Infants with abnormal newborn screening result that is medical emergency
Key exclusion criteria (1 listed)
- Participants or parents who cannot comply with study
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 |
|---|---|---|
| Whole Exome SequencingUsing next generation sequencing to analysis patient's whole exome. To explore the pathogenic gene variation. | Diagnostic test | critical illness in infants and children |
Primary outcome
Sensitivity of whole exome sequencing in detecting causative mutations
Time frame: 10 weeks
4 secondary outcomes
Time frame of mutation identified after receipt of the sample
Time frame: 10 weeks
Percentage of mutation identified within 7 days after receipt of the sample
Time frame: 10 weeks
Changes in healthcare decision after disclosure of the result
Time frame: 6 months
Parents/family's attitude about exome sequencing
Time frame: 6 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jun 2017.
- Individual participant dataSharing planned: No
Related trials for Congenital Metabolic Disorder
RecruitingPhase 1/2
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
X-linked Hypophosphatemia
RecruitingObservational study
Defining the Natural History of Squamous Cell Carcinoma in Fanconi Anemia
Fanconi Anemia, Inherited Bone Marrow Failure Syndrome
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingPhase 4
Treat-to-Target Serum Urate Versus Treat-to-Avoid Symptoms in Gout
Gout
RecruitingPhase 1
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
Friedreich's Ataxia (FA)
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. This study is not recruiting at the moment.
Wuh-Liang Hwu principal investigator
Department of Pediatrics and Medical Genetics, National Taiwan University Hospital
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 Congenital Metabolic Disorder and Acute 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 2 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 16 Jun 2017. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sensitivity of whole exome sequencing in detecting causative mutations (time frame: 10 weeks). 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 16 Jun 2017.