Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy (NSR-GENE)
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| ClinicalTrials.gov Identifier: NCT05361070 |
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Recruitment Status :
Recruiting
First Posted : May 4, 2022
Last Update Posted : May 4, 2022
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Sponsor:
University of California, San Francisco
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of California, San Francisco
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Brief Summary:
The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of post-neonatal epilepsy among children with acute provoked neonatal seizures. The researchers aim to develop prediction rules to stratify neonates into low, medium, and high risk for post-neonatal epilepsy based on clinical, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic risk factors.
| Condition or disease |
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| Neonatal Seizure Hypoxic-Ischemic Encephalopathy Stroke Intracranial Hemorrhage Epilepsy Gene Abnormality |
Neonatal seizures due to brain injury (acute provoked seizures) are associated with high risk of post-neonatal epilepsy. Although clinical risk factors can help predict which children are at highest risk for epilepsy, little is known about how genetic factors modify the risk for epilepsy after acute provoked neonatal seizures. The Neonatal Seizure Registry - GENetics of Epilepsy (NSR-GENE) study will test the central hypothesis that children who develop post-neonatal epilepsy are more likely to have pathogenic variants in epilepsy genes, and enrichment in single nucleotide polymorphisms within key inflammatory, neurotransmitter transport and homeostasis, and neurotrophic gene pathways as compared with children who do not develop unprovoked seizures before age five years, and that these can be added to traditional clinical risk factors to predict epilepsy after neonatal seizures.
| Study Type : | Observational [Patient Registry] |
| Estimated Enrollment : | 300 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Target Follow-Up Duration: | 5 Years |
| Official Title: | Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy (NSR-GENE) |
| Actual Study Start Date : | March 1, 2022 |
| Estimated Primary Completion Date : | February 28, 2027 |
| Estimated Study Completion Date : | February 28, 2027 |
Resource links provided by the National Library of Medicine
MedlinePlus Genetics related topics:
Pyridoxal 5'-phosphate-dependent epilepsy
Primary Outcome Measures :
- Number of participants with post-neonatal epilepsy [ Time Frame: 5 years of age ]The presence or absence of a post-neonatal epilepsy diagnosis at age 5 in children with a prior history of acute symptomatic neonatal seizures will be determined by telephone interview with the parent and corroborated by medical record review
Biospecimen Retention: None Retained
Saliva and buccal swab for DNA extraction
Information from the National Library of Medicine
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| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
Outpatient, family members/caregivers, children/minors, participants unable to read, speak or understand English
Criteria
Inclusion Criteria:
- Children < 44 weeks postmenstrual age at seizure onset
- Seizures due to an acute provoked cause (including, but not limited to HIE, ischemic stroke, or intracranial hemorrhage)
- Parent(s) who are English or Spanish literate (with interpreter)
- Age five years or older during the study period
- Both biological parents willing to participate
- Enrolled in NSR-II
- Fulfilling all NSR-II eligibility criteria and evaluated at an NSR center for neonatal seizures or enrolled in NSR-RISE
Exclusion Criteria:
- Risk for adverse outcome independent of seizures and underlying brain injury (including but not limited to inborn errors of metabolism, fetal infection, brain malformation)
- Transient cause for seizures (e.g., hypoglycemia without brain injury, hyponatremia, hypocalcemia)
- Neonatal-onset epilepsy syndromes
- Deceased
Information from the National Library of Medicine
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05361070
Contacts
| Contact: Hannah C Glass, MDCM, MAS | 415-476-3785 | hannah.glass@ucsf.edu | |
| Contact: Yasmeen A Rezaishad, BS | 415-476-3785 | yasmeen.rezaishad@ucsf.edu |
Locations
| United States, California | |
| University of California, San Francisco | Recruiting |
| San Francisco, California, United States, 94158 | |
| Contact: Yasmeen A Rezaishad, BS yasmeen.rezaishad@ucsf.edu | |
| Contact: Emma M Scudero, BS 415-476-3785 emma.scudero@ucsf.edu | |
| Principal Investigator: Hannah C Glass, MDCM, MAS | |
| Principal Investigator: Elliott Sherr, MD, PhD | |
| Sub-Investigator: Adam Numis, MD | |
| United States, District of Columbia | |
| Children's National Medical Center | Not yet recruiting |
| Washington, District of Columbia, United States, 20010 | |
| Contact: Ruoying (Penny) Li 202-476-3807 rli@childrensnational.org | |
| Principal Investigator: Taeun Chang, MD | |
| United States, Massachusetts | |
| Massachusetts General Hospital | Not yet recruiting |
| Boston, Massachusetts, United States, 02114 | |
| Contact: Erin Berja 617-249-4939 eberja@mgh.harvard.edu | |
| Principal Investigator: Catherine Chu, MD | |
| Boston Children's Hospital | Not yet recruiting |
| Boston, Massachusetts, United States, 02115 | |
| Contact: Jessica Landers, MS 617-355-0578 jessica.landers@childrens.harvard.edu | |
| Principal Investigator: Janet Soul, MD | |
| United States, Michigan | |
| University of Michigan | Not yet recruiting |
| Ann Arbor, Michigan, United States, 48109 | |
| Contact: Stephanie Rau, BS, CCRP 734-232-8474 shatchew@med.umich.edu | |
| Principal Investigator: Renee A Shellhaas, MD, MS | |
| United States, North Carolina | |
| Duke University | Not yet recruiting |
| Durham, North Carolina, United States, 27705 | |
| Contact: Caitlin Stone, MA Caitlin.stone@duke.edu | |
| Principal Investigator: Monica E Lemmon, MD | |
| United States, Ohio | |
| Cincinnati Children's Hospital Medical Center | Not yet recruiting |
| Cincinnati, Ohio, United States, 45229 | |
| Contact: Madeleine Robben 513-636-5511 madeleine.robben@cchmc.org | |
| Principal Investigator: Cameron Thomas, MD, MS | |
| United States, Pennsylvania | |
| Children's Hospital of Philadelphia | Not yet recruiting |
| Philadelphia, Pennsylvania, United States, 19104 | |
| Contact: Darshana Parikh, BA parikhd@email.chop.edu | |
| Principal Investigator: Nicholas Abend, MD, MSCE | |
Sponsors and Collaborators
University of California, San Francisco
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
| Principal Investigator: | Hannah C Glass, MDCM, MAS | University of California, San Francisco |
Publications:
| Responsible Party: | University of California, San Francisco |
| ClinicalTrials.gov Identifier: | NCT05361070 |
| Other Study ID Numbers: |
21-35563 R01NS124051 ( U.S. NIH Grant/Contract ) R01NS124051-01A1 ( U.S. NIH Grant/Contract ) |
| First Posted: | May 4, 2022 Key Record Dates |
| Last Update Posted: | May 4, 2022 |
| Last Verified: | April 2022 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | Yes |
| Plan Description: | In accordance with study sponsor |
| Time Frame: | In accordance with study sponsor |
| Access Criteria: | In accordance with study sponsor |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
Additional relevant MeSH terms:
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Epilepsy Seizures Brain Diseases Brain Ischemia Hypoxia-Ischemia, Brain Intracranial Hemorrhages Hemorrhage Central Nervous System Diseases Nervous System Diseases |
Pathologic Processes Neurologic Manifestations Hypoxia Signs and Symptoms, Respiratory Cerebrovascular Disorders Vascular Diseases Cardiovascular Diseases Hypoxia, Brain |