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Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy (NSR-GENE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05361070
Recruitment Status : Recruiting
First Posted : May 4, 2022
Last Update Posted : May 4, 2022
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of California, San Francisco

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
Neonatal Seizure Hypoxic-Ischemic Encephalopathy Stroke Intracranial Hemorrhage Epilepsy Gene Abnormality

Detailed Description:
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.

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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





Primary Outcome Measures :
  1. 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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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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
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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
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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
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Principal Investigator: Hannah C Glass, MDCM, MAS University of California, San Francisco
Publications:

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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

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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