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出境医 / 临床实验 / A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy
A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy
Study Description
Brief Summary:
The researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education.
| Condition or disease | Intervention/treatment |
|---|---|
| Seizures Seizure Disorder Seizure Newborn Seizures, Generalized Epileptic Encephalopathy Epileptic Encephalopathy, Neonatal-onset Epileptic Encephalopathy, Infant-onset KCNQ2 | Genetic: KCNQ2 |
Detailed Description:
Convulsion is the most common clinical manifestation of neonatal central nervous system dysfunction. the incidence of convulsion is very high in neonatal period, especially in the first week after birth. the incidence of convulsion decreases gradually with the increase of age. The incidence of convulsion reported by Bassan et al was 1.5 ‰ ~ 3.5 ‰ in term infants and 10% ≤ 130% in premature infants. Most of the neonatal convulsions suggest that there are serious primary diseases in the body. in addition to hypoxic-ischemic encephalopathy, intracranial hemorrhage and infection, a large number of studies have proved that genetic factors play a key role in the occurrence of neonatal convulsions and epileptic encephalopathy in infants. Nearly 20% to 50% of neonatal convulsions are idiopathic convulsions. it has been thought that KCNQ2 gene, a potassium channel subunit located in 20q11.3, and KCNQ3 gene, another potassium channel subunit located in 8q24, are mutated. Is the molecular basis for some benign familial neonatal convulsions, Usually the prognosis is good, but with the expansion of the study sample, investigators found that KCNQ2 may be associated with refractory epileptic encephalopathy, and there are few international reports in this regard. The study of KCNQ2 gene has led to a new understanding of the etiology of neonatal convulsion. The researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education.
Study Design
| Study Type : | Observational |
| Estimated Enrollment : | 100 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy |
| Estimated Study Start Date : | May 2019 |
| Estimated Primary Completion Date : | December 2022 |
| Estimated Study Completion Date : | December 2022 |
Arms and Interventions
| Group/Cohort | Intervention/treatment |
|---|---|
|
infants with seizure with KCNQ2 gene mutation.
Infants who met the inclusion criteria were enrolled in this study. The infants will get their own DNA sequencing results by WES technology. The researchers found that some of them carried mutations in the KCNQ2 gene. so they wanted to compare whether there were differences with or without KCNQ2 gene mutations in the efficacy of anticonvulsants or long-term neurodevelopment in different exposure groups.
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Genetic: KCNQ2
The researchers extracted DNA from the baby's serum and sent it to WES to get the baby's total exon sequence.
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Outcome Measures
Primary Outcome Measures :
- Incidence of seizure in children with KCNQ2 within 28 days of age [ Time Frame: From birth to under 28 days of age ]The investigators used WES to screen for neonatal onset seizure and calculated the incidence of KCNQ2 gene mutations in these neonates.
Secondary Outcome Measures :
- Recurrence rate of KNCQ2 gene-related convulsion in children under 1 year of age [ Time Frame: From birth to under 1 year of age ]
Some neonates with seizure associated with KCNQ2 gene mutation will develop epileptic encephalopathy or syndrome at a later stage.
The researchers calculated the probability of recurrent seizures or progression in neonates with seizure associated with KCNQ2 gene mutations within the age of one year.
- Efficacy of first-line anticonvulsants in children with KCNQ2 gene-related convulsions [ Time Frame: From the beginning of drug intervention to 72 hours after taking the drug. ]Some non-benign KCNQ2 gene-related convulsions require anticonvulsant intervention, and investigators hope to observe and obtain the effective rate of first-line anticonvulsant intervention. To determine whether the convulsion stopped or the frequency of convulsion decreased within 72 hours after taking the drug. If convulsions stop or the frequency of seizures decreases, drug intervention is considered effective.
- Scores of bayley III Neurodevelopmental scale [ Time Frame: The infants will be evaluated by bayley Neurodevelopment scale at the age of about two years. ]The investigators plan to use the bayley Neurodevelopmental scale to assess the neurodevelopmental status of infants with KCNQ2 gene-associated epileptic encephalopathy within 2 years of age.
Biospecimen Retention: Samples With DNA
The researchers retained the neonates' or infants' 2ml serum as a biological sample for the Whole Exon Sequencing.
Eligibility Criteria
| Ages Eligible for Study: | up to 28 Days (Child) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
Study Population
The subjects came from sub-central hospitals and the newborns were hospitalized in the neonatal department for primary seizure.
Criteria
Inclusion Criteria:
- Primary or initial convulsion
- Postnatal age <28 days.
- Seizure in the neonatal period
- Informed consent of parents
Exclusion Criteria:
- Seizure caused by congenital cerebral hypoplasia or multiple structural malformations.
- Seizure caused by other system-related syndromes.
- Seizure caused by perinatal or postpartum factors such as HIE, infection, intracranial hemorrhage, etc.
Contacts and Locations
Contacts
| Contact: Wenhao Zhou, Prof. | (+86) 021-64931168 | zwhchfu@126.com | |
| Contact: Lin Yang, Doctor | (+86)021-64931168 | yanglin_fudan@163.com |
Locations
| China, Shanghai | |
| Children Hospital of Fudan University | Recruiting |
| Shanghai, Shanghai, China, 201102 | |
| Contact: Wenhao Zhou, Doctor (+86)021-64931003 zwhchfu@126.com | |
Sponsors and Collaborators
Children's Hospital of Fudan University
Investigators
| Study Chair: | Wenhao Zhou, Prof. | Children Hospital of Fudan University |
| Tracking Information | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| First Submitted Date | April 29, 2019 | ||||||||
| First Posted Date | May 1, 2019 | ||||||||
| Last Update Posted Date | May 1, 2019 | ||||||||
| Estimated Study Start Date | May 2019 | ||||||||
| Estimated Primary Completion Date | December 2022 (Final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures |
Incidence of seizure in children with KCNQ2 within 28 days of age [ Time Frame: From birth to under 28 days of age ] The investigators used WES to screen for neonatal onset seizure and calculated the incidence of KCNQ2 gene mutations in these neonates.
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| Original Primary Outcome Measures | Same as current | ||||||||
| Change History | No Changes Posted | ||||||||
| Current Secondary Outcome Measures |
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| Original Secondary Outcome Measures | Same as current | ||||||||
| Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
| Descriptive Information | |||||||||
| Brief Title | A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy | ||||||||
| Official Title | A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy | ||||||||
| Brief Summary | The researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education. | ||||||||
| Detailed Description | Convulsion is the most common clinical manifestation of neonatal central nervous system dysfunction. the incidence of convulsion is very high in neonatal period, especially in the first week after birth. the incidence of convulsion decreases gradually with the increase of age. The incidence of convulsion reported by Bassan et al was 1.5 ‰ ~ 3.5 ‰ in term infants and 10% ≤ 130% in premature infants. Most of the neonatal convulsions suggest that there are serious primary diseases in the body. in addition to hypoxic-ischemic encephalopathy, intracranial hemorrhage and infection, a large number of studies have proved that genetic factors play a key role in the occurrence of neonatal convulsions and epileptic encephalopathy in infants. Nearly 20% to 50% of neonatal convulsions are idiopathic convulsions. it has been thought that KCNQ2 gene, a potassium channel subunit located in 20q11.3, and KCNQ3 gene, another potassium channel subunit located in 8q24, are mutated. Is the molecular basis for some benign familial neonatal convulsions, Usually the prognosis is good, but with the expansion of the study sample, investigators found that KCNQ2 may be associated with refractory epileptic encephalopathy, and there are few international reports in this regard. The study of KCNQ2 gene has led to a new understanding of the etiology of neonatal convulsion. The researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education. | ||||||||
| Study Type | Observational | ||||||||
| Study Design | Observational Model: Cohort Time Perspective: Prospective |
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| Target Follow-Up Duration | Not Provided | ||||||||
| Biospecimen | Retention: Samples With DNA Description:
The researchers retained the neonates' or infants' 2ml serum as a biological sample for the Whole Exon Sequencing.
|
||||||||
| Sampling Method | Probability Sample | ||||||||
| Study Population | The subjects came from sub-central hospitals and the newborns were hospitalized in the neonatal department for primary seizure. | ||||||||
| Condition |
|
||||||||
| Intervention | Genetic: KCNQ2
The researchers extracted DNA from the baby's serum and sent it to WES to get the baby's total exon sequence.
|
||||||||
| Study Groups/Cohorts | infants with seizure with KCNQ2 gene mutation.
Infants who met the inclusion criteria were enrolled in this study. The infants will get their own DNA sequencing results by WES technology. The researchers found that some of them carried mutations in the KCNQ2 gene. so they wanted to compare whether there were differences with or without KCNQ2 gene mutations in the efficacy of anticonvulsants or long-term neurodevelopment in different exposure groups.
Intervention: Genetic: KCNQ2
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| Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status | Recruiting | ||||||||
| Estimated Enrollment |
100 | ||||||||
| Original Estimated Enrollment | Same as current | ||||||||
| Estimated Study Completion Date | December 2022 | ||||||||
| Estimated Primary Completion Date | December 2022 (Final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria |
Inclusion Criteria:
Exclusion Criteria:
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| Sex/Gender |
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| Ages | up to 28 Days (Child) | ||||||||
| Accepts Healthy Volunteers | No | ||||||||
| Contacts |
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| Listed Location Countries | China | ||||||||
| Removed Location Countries | |||||||||
| Administrative Information | |||||||||
| NCT Number | NCT03934268 | ||||||||
| Other Study ID Numbers | CHFudanU_NNICU12 | ||||||||
| Has Data Monitoring Committee | Yes | ||||||||
| U.S. FDA-regulated Product |
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| IPD Sharing Statement |
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| Responsible Party | Children's Hospital of Fudan University | ||||||||
| Study Sponsor | Children's Hospital of Fudan University | ||||||||
| Collaborators | Not Provided | ||||||||
| Investigators |
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| PRS Account | Children's Hospital of Fudan University | ||||||||
| Verification Date | April 2019 | ||||||||
