Etiology and Treatment of Neonatal Seizure

NCT03822741 | Recruiting DMC

• 1 other identifier: CHFudanU_NNICU10
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

Genetic diagnosis for neonates suffering from epilepsy has important implications for treatment, prognosis, and development of precision medicine strategies. Investigator performed exome sequencing (ES) or targeted sequencing on neonates with seizure onset within the first month of life. Investigator subgrouped our patients based on the onset age of seizure into neonatal and before 1 year (1-12 months), to compare the clinical and genetic features and treatment strategies.

Conditions

Seizures; Seizure Disorder; Seizure Newborn; Seizure Generalized

Keywords

seizure

Outcome Measures

Primary Outcomes (2)

• Mutation rate of common seizure genes

  We'll get the genetic profiles of all neonates who had seizures during this period. The mutation rate of common variant gene was calculated by gene spectrum.

  From the oneset of seizure to the genetic sequencing finish, the process may last up to 3 months.

• Rate of seizure free

  After the onset of seizure, through clinical management and individualized intervention, we expect to observe the number and proportion of effective seizure treatments.

  From the onset of seizure to 6 months after the onset of seizure

Eligibility Criteria

• Age: Up to 12 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The subjects were treated in the Department of Neonatology of Children Hospital of Fudan University. All samples in this study were collected with appropriate informed consent and approval of the ethics committee of Children's Hospital, Fudan University. The methods used in this study were carried out in accordance with the approved guidelines.

You may qualify if:

• severe seizures in neonates or generalized epilepsy or intractable epilepsy in infancy with generalized tonic-clonic seizures,
• seizures onset before 1 year of age,
• epileptic syndromes/epileptic-encephalopathies with unknown etiology.

You may not qualify if:

• Patients were excluded if they had traumas, central nervous system infections, hypoxic-ischemic encephalopathy, vascular events, systemic infections, and diagnosed metabolic disorders, and pathogenic copy-number variants were identified using array-based comparative genomic hybridization (CGH).

Sponsors & Collaborators

• Children's Hospital of Fudan University: lead

Study Sites (1)

Children Hospital of Fudan University

Shanghai, Shanghai Municipality, 201102, China

RECRUITING

Related Publications (7)

• EpiPM Consortium. A roadmap for precision medicine in the epilepsies. Lancet Neurol. 2015 Dec;14(12):1219-28. doi: 10.1016/S1474-4422(15)00199-4. Epub 2015 Sep 20.

  PMID: 26416172 BACKGROUND

• Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Burki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kroll J, Dorn T, Kramer G, Synofzik M, Becker F, Weber YG, Lerche H, Bohm D, Biskup S. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21.

  PMID: 22612257 BACKGROUND

• Moller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Penalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20.

  PMID: 27781031 BACKGROUND

• Striano P, Zara F. Epilepsy: Common and rare epilepsies share genetic determinants. Nat Rev Neurol. 2017 Apr;13(4):200-201. doi: 10.1038/nrneurol.2017.30. Epub 2017 Mar 10. No abstract available.

  PMID: 28281535 BACKGROUND

• Striano P, Vari MS, Mazzocchetti C, Verrotti A, Zara F. Management of genetic epilepsies: From empirical treatment to precision medicine. Pharmacol Res. 2016 May;107:426-429. doi: 10.1016/j.phrs.2016.04.006. Epub 2016 Apr 11.

  PMID: 27080588 BACKGROUND

• Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010 Sep;38(16):e164. doi: 10.1093/nar/gkq603. Epub 2010 Jul 3.

  PMID: 20601685 BACKGROUND

• Myers CT, Mefford HC. Advancing epilepsy genetics in the genomic era. Genome Med. 2015 Aug 25;7(1):91. doi: 10.1186/s13073-015-0214-7.

  PMID: 26302787 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Biological samples contain 2ml of blood, which is used to extract DNA from the blood for gene sequencing.

MeSH Terms

Conditions

Seizures; Epilepsy

Condition Hierarchy (Ancestors)

Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Brain Diseases; Central Nervous System Diseases

Study Officials

• Wenhao Zhou, Doctor

  Children's Hospital of Fudan University

  STUDY CHAIR

Central Study Contacts

Wenhao Zhou, Doctor

CONTACT

zwhchfu@126.com

Lin Yang, Doctor

CONTACT

yanglin_fudan@163.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 2, 2018
• First Posted: January 30, 2019
• Study Start: August 8, 2016
• Primary Completion (Estimated): December 30, 2026
• Study Completion (Estimated): December 30, 2026
• Last Updated: March 16, 2026

Record last verified: 2026-03

Locations

CN (1)