RECRUITING

Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The goal of this study is to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families.

Official Title

Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis: Gene-Shortening Time of Evaluation in Pediatric Epilepsy Services (Gene-STEPS)

Quick Facts

Study Start:2021-09-02

Study Completion:2029-11

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06701084

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
* Seizure onset at less than 12 months of age * Enrollment within 6 weeks of seizure-related presentation * Patient at Boston Children's Hospital	* Simple febrile seizures * Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury) * Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex) * Deceased prior to enrollment

Inclusion Criteria

Exclusion Criteria

* Seizure onset at less than 12 months of age
* Enrollment within 6 weeks of seizure-related presentation
* Patient at Boston Children's Hospital

* Simple febrile seizures
* Acute provoked seizures (e.g., due to sepsis, hemorrhage, electrolyte abnormality, cerebral infarction, hypoxic ischemic encephalopathy, non-accidental injury)
* Genetic or acquired cause of epilepsy already identified, including brain magnetic resonance imaging findings consistent with a specific genetic etiology (e.g., tuberous sclerosis complex)
* Deceased prior to enrollment

Contacts and Locations

Study Contact

Beth R Sheidley, MS

CONTACT

8572185533

beth.sheidley@childrens.harvard.edu

Principal Investigator

Alissa M D'Gama, MD, PhD

PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Study Locations (Sites)

Boston Children's Hospital

Boston, Massachusetts, 02115

United States

Collaborators and Investigators

Sponsor: Boston Children's Hospital

Alissa M D'Gama, MD, PhD, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-09-02

Study Completion Date2029-11

Study Record Updates

Study Start Date2021-09-02

Study Completion Date2029-11

Terms related to this study

Additional Relevant MeSH Terms

Neonatal Epilepsy
Infantile Epilepsy