Genetic ScreeningNCT04905537
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
An observational study of Genetic Screening and Hereditary Disease, run by Children's Hospital of Fudan University at 1 site in China.
Trial summary
The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary critical illness. Read more about this study
- Who is it for?
- Ages Up to 100 days
- Conditions the study is for
- Genetic Screening, Hereditary Disease, Newborn
- How many people
- 4,000 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2021to Dec 2025
- 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 100 days
- All sexes
- No healthy volunteers
- Child
Study population: The subjects were all from all the member organizations participating in this research. They were hospitalized in the neonatal department or stillbirth in obstetrics department of each member hospital.
Who may be able to join
- Postnatal age less than 100 days;
- Perinatal death after 20 weeks of gestation (more than 500 g)
- Can be retained biological samples for genetic screening;
- Biological parent or guardian's informed consent.
Who cannot join
- Reluctance of parents to use genetic sequencing data for subsequent research;
- Parents under 18 years of age or incapacitated for decision-making;
- subjects older than 100 days;
- Perinatal death less than 20 weeks of gestation or weight less than 500 g;
- Inherited metabolic diseases with chromosomal abnormalities;
- Multiple pregnancies;
- Lack of access to biological samples from which DNA can be extracted;
- Failure to sign informed consent.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Lin Yang contact
China1 site, 1 recruiting
- Recruiting
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality
Wenhao Zhou, Doctor, +86-21-64931913, zhouwenhao@fudan.edu.cn
Lin Yang, Doctor, yanglin_fudan@163.com
About this study
The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary critical illness.
Read the detailed description
Reducing the rate of neonatal death and disability is an important part of health education in China, and genetic diseases are an important cause of neonatal death. At present, with the development of life support platform technology, the treatment level of critically ill newborns has been rapidly improved. How to quickly diagnose and early precise intervention is the key to further break through the diagnosis and treatment of genetic diseases. Based on the "neonatal genome project" carried out in the early stage, the research group based on the genetic diagnosis results of over 10000 cases of neonatal critical illness cohort, studied the genetic disease spectrum of neonatal critical illness in line with the actual situation in China. In terms of detection technology, based on the second-generation sequencing technology, we established a critical illness screening gene sequencing combination including 300 genes; In the aspect of data analysis, an intelligent analysis process integrating clinical phenotype and gene sequencing data was established; In terms of clinical diagnosis and treatment, we cooperated with 5 maternity and children's hospitals in Shanghai to carry out multi center clinical verification, and formed the implementation plan of early universal genetic screening for neonatal critical illness. Through this project, we will carry out genetic disease screening research on neonatal critical diseases, focus on typical clinical manifestations such as encephalopathy, immunodeficiency, metabolic diseases, and carry out molecular autopsy on neonatal death cases to identify potential genetic causes, so as to provide basis for the research of corresponding early precise intervention strategies, and achieve the purpose of reducing neonatal death and disability rate.
- Conditions
- Genetic Screening, Hereditary Disease, Newborn, Stillbirth
- Being tested
- No intervention
- Medical subject headings
- Genetic Diseases, Inborn, Stillbirth
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
It's only observational study. No interventions.
| Study group | Role | What they receive |
|---|---|---|
| Sick Neonates or Stillbirth | Infants and their parents enrolled through Neonatal Intensive Care Unit or stillbirths through Obstetrics Department of member hospitals who are un-randomized to receive genomic sequencing. Results disclosure sessions will include a discussion of: family history report, results from standard newborn screening, any potentially medically relevant findings from the baby's medical history/ physical exam, and the results of the genomic sequencing report. Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Gene Mutation
To detect the mutation and characterize the genetic architecture and risk variants (911 variants of 146 genes, for example, AGT, AGTR1, CA12, CD2AP et al) of subjects using different genomic methods
Measured: In 3 months after receipt of the samples
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 May 2021
- Study start1 Jan 2021
- Primary completionNov 2025 (estimated)
- Study completionDec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for Genetic ScreeningStudies of the same condition, open and under way.
- More trials run by Children's Hospital of Fudan UniversityThe 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
- Prospective
- Enrolment
- 4,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Fudan University
- Sponsor type
- University, hospital or other
- Collaborators
- International Peace Maternity and Child Health Hospital, Obstetrics & Gynecology Hospital of Fudan University, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Children's Medical Center, Shanghai Children's Hospital
- Responsible party
- Sponsor
- Investigators
- Wenhao Zhou, Study chair, Children's Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04905537
- Sponsor's protocol ID
- CHFudanU_NNICU15
- Status last verified
- Feb 2025
- First submitted
- 25 May 2021
- Last updated
- 20 Feb 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, Hu L, Cheng G, Wang L, Zhou W. Genetic aetiology of early infant deaths in a neonatal intensive care unit. J Med Genet. 2020 Mar;57(3):169-177. doi: 10.1136/jmedgenet-2019-106221. Epub 2019 Sep 9.
PubMed 31501239Stevenson DA, Carey JC. Contribution of malformations and genetic disorders to mortality in a children's hospital. Am J Med Genet A. 2004 May 1;126A(4):393-7. doi: 10.1002/ajmg.a.20409.
PubMed 15098237Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.
PubMed 25937001Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30.
PubMed 27241786Amberger JS, Hamosh A. Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes. Curr Protoc Bioinformatics. 2017 Jun 27;58:1.2.1-1.2.12. doi: 10.1002/cpbi.27.
PubMed 28654725Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.
PubMed 30609409Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.
PubMed 28096516Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG; RCIGM Investigators. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Pediatr Crit Care Med. 2019 Nov;20(11):1007-1020. doi: 10.1097/PCC.0000000000002056.
PubMed 31246743
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
- Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
- ClinicalTrials.gov ID
- NCT04905537
- Acronym / sponsor ID
- CHFudanU_NNICU15
- Conditions
- Genetic Screening, Hereditary Disease, Newborn, Stillbirth
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 4,000 participants (estimated)
- Lead sponsor
- Children's Hospital of Fudan UniversityUniversity, hospital or other
- Collaborators
- International Peace Maternity and Child Health Hospital, Obstetrics & Gynecology Hospital of Fudan University, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Children's Medical Center, Shanghai Children's Hospital
- Study start
- 1 Jan 2021 (actual)
- Primary completion
- Nov 2025 (estimated)
- Study completion
- Dec 2025 (estimated)
- First posted
- 27 May 2021 (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.
The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary critical illness.
Detailed description
Reducing the rate of neonatal death and disability is an important part of health education in China, and genetic diseases are an important cause of neonatal death. At present, with the development of life support platform technology, the treatment level of critically ill newborns has been rapidly improved. How to quickly diagnose and early precise intervention is the key to further break through the diagnosis and treatment of genetic diseases. Based on the "neonatal genome project" carried out in the early stage, the research group based on the genetic diagnosis results of over 10000 cases of neonatal critical illness cohort, studied the genetic disease spectrum of neonatal critical illness in line with the actual situation in China. In terms of detection technology, based on the second-generation sequencing technology, we established a critical illness screening gene sequencing combination including 300 genes; In the aspect of data analysis, an intelligent analysis process integrating clinical phenotype and gene sequencing data was established; In terms of clinical diagnosis and treatment, we cooperated with 5 maternity and children's hospitals in Shanghai to carry out multi center clinical verification, and formed the implementation plan of early universal genetic screening for neonatal critical illness. Through this project, we will carry out genetic disease screening research on neonatal critical diseases, focus on typical clinical manifestations such as encephalopathy, immunodeficiency, metabolic diseases, and carry out molecular autopsy on neonatal death cases to identify potential genetic causes, so as to provide basis for the research of corresponding early precise intervention strategies, and achieve the purpose of reducing neonatal death and disability rate.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Sick Neonates or Stillbirth | – | Other: No interventionInfants and their parents enrolled through Neonatal Intensive Care Unit or stillbirths through Obstetrics Department of member hospitals who are un-randomized to receive genomic sequencing. Results disclosure sessions will include a discussion of: family history report, results from standard newborn screening, any potentially medically relevant findings from the baby's medical history/ physical exam, and the results of the genomic sequencing report. |
Who may qualify
- Ages
- Up to 100 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The subjects were all from all the member organizations participating in this research. They were hospitalized in the neonatal department or stillbirth in obstetrics department of each member hospital.
Key inclusion criteria (4 listed)
- Postnatal age less than 100 days;
- Perinatal death after 20 weeks of gestation (more than 500 g)
- Can be retained biological samples for genetic screening;
- Biological parent or guardian's informed consent.
Key exclusion criteria (8 listed)
- Reluctance of parents to use genetic sequencing data for subsequent research;
- Parents under 18 years of age or incapacitated for decision-making;
- subjects older than 100 days;
- Perinatal death less than 20 weeks of gestation or weight less than 500 g;
- Inherited metabolic diseases with chromosomal abnormalities;
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 |
|---|---|---|
| No interventionIt's only observational study. No interventions. | Other | Sick Neonates or Stillbirth |
Primary outcome
Gene Mutation
Time frame: In 3 months after receipt of the samples
To detect the mutation and characterize the genetic architecture and risk variants (911 variants of 146 genes, for example, AGT, AGTR1, CA12, CD2AP et al) of subjects using different genomic methods
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.
- Background: PubMed 31501239Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, Hu L, Cheng G, Wang L, Zhou W. Genetic aetiology of early infant deaths in a neonatal intensive care unit. J Med Genet. 2020 Mar;57(3):169-177. doi: 10.1136/jmedgenet-2019-106221. Epub 2019 Sep 9.
- Background: PubMed 15098237Stevenson DA, Carey JC. Contribution of malformations and genetic disorders to mortality in a children's hospital. Am J Med Genet A. 2004 May 1;126A(4):393-7. doi: 10.1002/ajmg.a.20409.
- Background: PubMed 25937001Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.
- Background: PubMed 27241786Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30.
- Background: PubMed 28654725Amberger JS, Hamosh A. Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes. Curr Protoc Bioinformatics. 2017 Jun 27;58:1.2.1-1.2.12. doi: 10.1002/cpbi.27.
- Background: PubMed 30609409Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016.
- Background: PubMed 28096516Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17.
- Background: PubMed 31246743Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG; RCIGM Investigators. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Pediatr Crit Care Med. 2019 Nov;20(11):1007-1020. doi: 10.1097/PCC.0000000000002056.
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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.
Lin Yang contact
Wenhao Zhou study chair
Children's Hospital of Fudan University
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 Genetic Screening and Hereditary Disease, run by Children's Hospital of Fudan University at 1 site in China.
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 4 inclusion and 8 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 China. 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 Wenhao Zhou (+86-21-64931913, zhouwenhao@fudan.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gene Mutation (time frame: In 3 months after receipt of the samples). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04905537, which also lists 8 linked publications.
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.